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Table of Content

Open Access Case Report

Progressive Pseudo-Rheumatoid Dysplasia a Rare Genetic Musculoskeletal Condition Causing Crippling Disability in a Young Boy- a Case Report

Received: 05 July 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304202

Abstract

Progressive pseudo-rheumatoid dysplasia (PPRD) is an uncommon genetic condition inherited in an autosomal recessive mode caused by a mutation in the WNT1-inducible signaling pathway protein 3 (WISP3) located on chromosome 6q21. In this condition, the articular cartilage gradually deteriorates, causing severe discomfort, stiffness, and joint deformities with a relatively high prevalence in Middle Eastern countries. Camptodactyly and platyspondyly are the standard features found in this condition. We present a very y [...]

1126 6725

Open Access Concept Paper

Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

Received: 21 March 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304201

Abstract

The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Mandelin reagent and its alternatives is commented. The implication in the effects of TSH in blood and the possible ways of dealing with the situation. Since 1978, the Newborn Screening Program in Galicia has maintained the urine samp [...]

983 5456

Open Access Original Research

Somaclonal Variation in Callus Cultures of Rose Periwinkle, Catharanthus Roseus L. Under Induced Salt and Osmotic Stresses

Received: 29 July 2023;  Published: 26 October 2023;  doi: 10.21926/obm.genet.2304200

Abstract

The experiment was carried out at the laboratories of the National Commission for Biotechnology in Syria during the period 2020-2022 to detect the somaclonal genetic variation occurring in callus cultures at different ages and to compare them with the In vitro growing plants and introduced species of Rose Periwinkle that grew up in the Syrian environment, in addition, exploring the effect of abiotic stresses in causing genetic variations in callus, by the Inter Simple Sequence Repeats technique (ISSR) using 21 prim [...]

1333 8806

Open Access Original Research

Examining the Relationship between Attitudes Towards Genomic Technology and Genetic Entrepreneurial Intention among Egyptian Healthcare Professionals

Received: 24 September 2023;  Published: 24 October 2023;  doi: 10.21926/obm.genet.2304199

Abstract

In the contemporary landscape, nurturing genomic entrepreneurial attitudes and intentions poses a substantial challenge for healthcare organizations. The present paper examines the factors affecting attitudes towards genomic technology and entrepreneurial intentions among Egyptian healthcare professionals. The study applied a quantitative approach and collected cross-sectional data from 276 health professionals using convenience sampling. Using structural equation modeling (SEM) through SmartPLS 4, the findings sug [...]

1088 6403

Open Access Review

Mutation Breeding in Horticultural Plant Species

Received: 27 July 2023;  Published: 19 October 2023;  doi: 10.21926/obm.genet.2304198

Abstract

In the face of rapid population growth worldwide, humanity's need for plant and animal products is increasing. In this regard, the organizations in charge of production make production and consumption forecasts for the future and try to accelerate the work aimed at increasing production. There are various ways of increasing production. The first of these is the improvement of cultivation techniques, the expansion of irrigated agricultural areas, and the effective control of diseases and pests. The second is to find [...]

1644 14789

Open Access Review

Newborn Screening for Inborn Errors of Metabolism

Received: 14 June 2023;  Published: 18 October 2023;  doi: 10.21926/obm.genet.2304197

Abstract

Newborn screening can now detect more than 50 disorders, providing early and often life-saving treatment. Inborn errors of metabolism account for the majority of these disorders. This review will consider the more common metabolic disorders identified on newborn screening, including history, technique and management of these disorders.

1632 11364

Open Access Review

Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

Received: 29 June 2023;  Published: 10 October 2023;  doi: 10.21926/obm.genet.2304196

Abstract

The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. This review highlights the intricacies of medical nutrition therapy for several common metabolic disorders and underscores the crucial role of metabolic dietitians in managing these patients.

1150 9664

Open Access Review

Whole Genome Sequencing in Era of Newborn Screening

Received: 20 April 2023;  Published: 05 October 2023;  doi: 10.21926/obm.genet.2304195

Abstract

After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenge [...]

1352 10146

Open Access Review

Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers

Received: 14 June 2023;  Published: 25 September 2023;  doi: 10.21926/obm.genet.2303194

Abstract

Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, includi [...]

1131 10337

Open Access Research Article

Arginine and Histidine-modified Layered Double Hydroxides Facilitate Transgene Expression in Cancer Cells in Vitro

Received: 14 June 2023;  Published: 21 September 2023;  doi: 10.21926/obm.genet.2303193

Abstract

Layered double hydroxides (LDHs) have interesting properties and structures that enable them to carry nucleic acids, such as deoxyribonucleic acid (DNA). This study synthesized LDHs using the co-precipitation method and functionalized with the amino acids arginine (Arg) and histidine (His) to promote proton-sponge activity for enhanced transgene expression. The LDHs were characterized using X-ray diffraction (XRD), transmission electron microscopy (TEM), and nanoparticle tracking analysis (NTA). The interaction of [...]

1428 7008

Open Access Short Review

Normal and Aberrant Muscle Tissue Healing, Learning from Health and Disease

Received: 28 March 2023;  Published: 19 September 2023;  doi: 10.21926/obm.genet.2303192

Abstract

Human skeletal muscle exhibits remarkable plasticity, being responsive to chemical, mechanical, metabolic, and inflammatory stress. When the homeostatic disturbance is below a threshold of significant damage, the muscle responds by modifying metabolic activity, cell size/shape, and structure, thereby normalizing cellular function. If the disturbance causes significant damage, skeletal muscle, along with a precisely choreographed response from the immune system, can regenerate. Very few pathological conditions inhib [...]

1017 7263

Open Access Review

Secondary Findings of Newborn Screening

Received: 16 April 2023;  Published: 31 August 2023;  doi: 10.21926/obm.genet.2303191

Abstract

The aim of newborn screening (NBS) program is to detect and manage treatable conditions in the early stages prior to the occurrence of long-term and irreversible sequalae. Phenylketonuria was the first screened disorder, but panels rapidly expanded after the introduction of tandem mass spectrometry technology into the program. Significant differences in the diseases screened by NBS were noted between programs in United States. Therefore, the recommended uniform screening panel was developed in 2006 to include a lis [...]

1455 7968

Open Access Review

Newborn Screening for Severe Combined Immunodeficiency

Received: 02 June 2023;  Published: 04 August 2023;  doi: 10.21926/obm.genet.2303190

Abstract

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) has been successfully implemented in all 50 United States and Puerto Rico from 2008-2018. This life-saving screening tool has drastically improved overall survival of babies diagnosed with SCID from 74% to 96%. TREC is a stable, circular DNA molecule that is produced during the process of T-cell receptor (TCR) rearrangement and is the target of the quantitative PCR screen on Guthrie cards. Low TRECs are a marker of low naive T cell numbers. This ne [...]

1317 16418

Open Access Research Article

The Use of Transgenic Resistant Plums in Transgrafting Fails to Confer Plum Pox Virus Resistance in Prunus

Received: 16 January 2023;  Published: 25 July 2023;  doi: 10.21926/obm.genet.2303189

Abstract

In order to sustain productivity, growers are implementing fruit trees to provide plum pox virus (PPV) resistant varieties. Unfortunately, classical breeding approaches have failed to develop resistant varieties. RNA interference (RNAi) silencing, as an alternate strategy, has been shown to be an efficient approach to combat PPV disease (sharka). PPV resistance based on RNAi has been demonstrated in natural conditions for over 10 years. Experiments using graft inoculation in high-containment greenhouses show that s [...]

1163 166471

Open Access Review

Newborn Screening for Mucopolysaccharidosis Type I: Past, Present and Future

Received: 31 March 2023;  Published: 24 July 2023;  doi: 10.21926/obm.genet.2303188

Abstract

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase α-L-iduronidase. MPS I is characterized by a broad range of disease manifestations. This includes devastating neurocognitive and bone manifestations and a short life expectancy in severely affected MPS I patients. Neurocognitive manifestations are typically limited in more attenuated MPS I, but patients may still suffer from severe somatic and bone manifestations. Severe MPS I patients are primaril [...]

1309 9217

Open Access Research Article

An Efficient Method for Micropropagation of Red-List Herbaceous Plant Species (Hedysarum cretaceum)

Received: 11 November 2022;  Published: 20 July 2023;  doi: 10.21926/obm.genet.2303187

Abstract

Hedysarum cretaceum Fisch is a critically endangered herbaceous species with high ornamental and phytomeliorative properties; thus, it needs urgent conservation and protection methods to conserve. In the present study, an efficient method for microtonal propagation of H. cretaceum is developed. The seed sterilization was optimized as treatment with 96% alcohol (2 min) and burned (1 sec) through a burner flame. Murashige and Skoog (MS) medium with the addition of 0.5 mg/L 6-Benzylaminopurine (BAP) (shoots per explan [...]

1096 6763

Open Access Research Article

An Evidence of Drug Repurposing for COVID-19 Pandemic Based on In silico Investigation from Phenolic Derivatives of Silybum Marianum Against SARS-Cov-2 Proteins

Received: 11 January 2023;  Published: 04 July 2023;  doi: 10.21926/obm.genet.2303186

Abstract

The outbreak of coronavirus disease-2019 (COVID-19) had a striking impact on the worldwide healthcare system within a very short period. The availability of a large number of clinical data on SARS-CoV-2, conventional precautionary majors, and treatment strategies with the existing therapeutic antiviral drug molecules also fails to control progression and disease transmission among the population. Hence, we implemented pharmacoinformatics approaches to facilitate the drug discovery by repurposing naturally available [...]

1165 8178

Open Access Review

A Narrative Review of the TP53 and Its Product the p53 Protein

Received: 02 January 2023;  Published: 03 July 2023;  doi: 10.21926/obm.genet.2303185

Abstract

The main purpose of this paper was to generate a narrative review related to the current knowledge of the TP53 gene and its product, the p53 protein. It was also attempted to elucidate the different p53 reactivation strategies of great interest, as various small molecules are being studied to reactivate mutant p53. PubMed and ScienceDirect were searched for p53, mutant p53, and wild-type p53 limited by the title filter through the end of 2022. The collected articles were studied, evaluated and summarized. In the sh [...]

4421 31595

Open Access Research Article

Relationship between Hearing Loss Risk Factors and Hearing Screening Results in Newborns: A Retrospective Cross-Sectional Study

Received: 02 January 2023;  Published: 29 June 2023;  doi: 10.21926/obm.genet.2302184

Abstract

Congenital hearing loss can have a long-term impact on children’s speech and communication abilities. Early detection and intervention of hearing loss are important in newborns. It is well known that there are several risk factors for hearing loss; however, the relationship between these risk factors and hearing screening tests remains uncertain in Iran. Therefore, this study aimed to explore the relationship between hearing loss risk factors and Automated Auditory Brainstem Response (AABR) and Transient-Evok [...]

1139 7037

Open Access Review

Mycobacterium Tubercular Mediated Inflammation and Lung Carcinogenesis: Connecting Links

Received: 03 September 2022;  Published: 21 June 2023;  doi: 10.21926/obm.genet.2302183

Abstract

Lung cancer is a leading cause of death among all the cancer worldwide and it has the highest occurrence and mortality rates. Mycobacterium tuberculosis (MTB) induced tuberculosis has been known as one of the risk factors for lung carcinogenesis. The exact mechanism of MTB is understood to date. Several research and epidemiological studies about the link between tuberculosis and lung cancer exist. It has been proposed that tuberculosis causes chronic inflammation, which increases the risk of lung cancer by creating [...]

1119 7992

Open Access Review

Spinal Muscular Atrophy: An Overview

Received: 10 April 2023;  Published: 14 June 2023;  doi: 10.21926/obm.genet.2302182

Abstract

Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular atrophy, each with varying degrees of symptoms based on the number of survival motor neurons. Current treatment options include gene therapy and supportive care. Futur [...]

1327 10247

Open Access Research Article

Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iran

Received: 11 October 2022;  Published: 12 May 2023;  doi: 10.21926/obm.genet.2302181

Abstract

Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missense mutations in MEFV are linked to FMF disease. Mutations in MEFV in most cases are located on the short arm of chromosome 16 and can impair the function of the pyrin protein. In this research, we aimed to examine the entire exons of MEFV fo [...]

1274 8657

Open Access Research Article

Relationship between the Severity of Chest CT Scan Lesions, Arterial Oxygenation and Inflammatory Markers in High – Altitude Patients with Covid-19

Received: 01 December 2022;  Published: 19 April 2023;  doi: 10.21926/obm.genet.2302180

Abstract

This study aims to determine the relationship between the severity of lung tomographic compromise with arterial oxygenation and inflammatory markers in patients with COVID-19, and to evaluate the relationship between the CTSS tomographic severity score and the mortality risk in a high-altitude population. A retrospective, longitudinal study reviewed medical records between January and July of 2021 at the Daniel Alcides Carrión Regional Teaching Clinical Surgical Hospital in Huancayo. Categorical variables were anal [...]

1007 7359

Open Access Original Research

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1

Received: 29 June 2022;  Published: 28 March 2023;  doi: 10.21926/obm.genet.2301179

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number of CTG repeats can predict the severity of symptoms in children with CDM. This retrospective study examined 14 women with DM1 and their 14 children diagnosed with CDM. There were 11 CDM and 3 non-CDM patients. The correlation betwee [...]

1327 12429

Open Access Original Research

Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experience

Received: 21 October 2022;  Published: 08 February 2023;  doi: 10.21926/obm.genet.2301178

Abstract

Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with oligospermia -98 mild, 57 moderate, 13 severe- and 293 with normospermia) undergoing In Vitro Fertilization (IVF) between 2016-2022 were enrolled in the study. Thirty-eight fertile men were [...]

1543 9570

Open Access Technical Note

Validation of Fluorescence in Situ hybridization (FISH) Assay Using An Analyte-Specific Reagent in Detecting Aneuploidies of Chromosomes 13, 18, 21, X, and Y in Prenatal Diagnosis

Received: 01 October 2022;  Published: 06 February 2023;  doi: 10.21926/obm.genet.2301177

Abstract

Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test laboratories. There is an emerging demand for prenatal diagnosis of aneuploidies by FISH. Since most of these assays are laboratory-developed tests, it is essential to validate them prior to their use in diagnosis. However, validation procedure [...]

1806 10972

Open Access Interview

An Interview with Dr. Yuri Shavrukov

Received: 09 January 2023;  Published: 10 January 2023;  doi: 10.21926/obm.genet.2301176

Abstract

An Interview with Dr. Yuri Shavrukov

834 7466

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2022

Received: 05 January 2023;  Published: 05 January 2023;  doi: 10.21926/obm.genet.2301175

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

781 5357

Open Access Interview

An Interview with Dr. Masahiro Sato

Received: 13 December 2022;  Published: 14 December 2022;  doi: 10.21926/obm.genet.2204174

Abstract

An Interview with Dr. Masahiro Sato

1095 6407

Open Access Review

The Actual Situation of Covid-19 Infection at High Altitudes in Perú

Received: 03 August 2022;  Published: 12 December 2022;  doi: 10.21926/obm.genet.2204173

Abstract

This study aimed to reveal the evolution and characteristics of the COVID-19 pandemic in high-altitude areas of Perú. An observational, descriptive, retrospective and longitudinal study based on information from the Peruvian Ministry of Health, COVID-19 Situational Room, warning from the National Epidemiology Center, Prevention and Disease Control, and the Panamerican Health Organization (PAHO) was conducted to analyze the occurrence of the COVID-19 pandemic in Perú from the beginning of the pandemic until March 7, [...]

1000 7251

Open Access Original Research

Cytohistopathological Correlation of 884 Cervical Pap Smears as Bethesda System 2014: A Hospital-Based Study

Received: 14 September 2022;  Published: 22 November 2022;  doi: 10.21926/obm.genet.2204172

Abstract

Cervical carcinoma is most common in Indian women of which Rural women are predominantly affected. The most common etiological factor is human papillomavirus (HPV ). The present study aims to assess the diagnostic accuracy, sensitivity, specificity, and different patterns of cervical Pap smears by comparing histological findings. The index study is a retrospective cross-sectional analytical study. The data was collected at the pathology department from May 2017 to December 2019 according to hospital ethical protoco [...]

1323 9097

Open Access Review

Abiotic Stress: Interplay Between ROS Production and Antioxidant Machinery, Signaling, and ROS Homeostasis

Received: 29 August 2022;  Published: 09 November 2022;  doi: 10.21926/obm.genet.2204171

Abstract

Climate change poses a substantial threat to global crop yield. Moreover, crop production is likely to reduce in the near future because of increasing average temperatures, widespread extreme climate events, and the loss of agricultural land. Abiotic stresses are the major factors limiting the growth and development of various crops worldwide. They cause the buildup of reactive oxygen species (ROS), which leads to cellular damage in a variety of subcellular compartments in plants. The metabolic rate of ROS is criti [...]

1608 11167

Open Access Review

Novel Insights into Epigenetic Control of Autophagy in Cancer

Received: 28 June 2022;  Published: 08 November 2022;  doi: 10.21926/obm.genet.2204170

Abstract

The autophagy mechanism recycles the damaged and long-standing macromolecular substrates and thus maintains cellular homeostatic and proteostatic conditions. Autophagy can be an unavoidable target in cancer therapy because its deregulation leads to cancer formation and progression. Cancer can be controlled by regulating autophagy at different genetic, epigenetic, and post-translational levels. Epigenetics refers to the heritable phenotypic changes that affect gene activity without changing the sequence. Modern biol [...]

1425 11405

Open Access Original Research

Comparison of Sputum and Oropharyngeal Microbiome Compositions in Patients with Non-Small Cell Lung Cancer

Received: 01 August 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204169

Abstract

Recent findings indicate that the microbiota is involved in the development of lung cancer by inducing inflammatory responses and generating genome damage. This study aimed to compare sputum microbiomes from the mouth and oropharynx in non-small cell lung carcinoma (NSCLC) patients. A second goal was to search for bacterial taxonomic units that behave differently in the microbiome of NSCLC patients and healthy subjects. In the study, the taxonomic composition of the sputum and oropharyngeal microbiomes of 23 male p [...]

1144 6997

Open Access Case Report

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Received: 30 June 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204168

Abstract

Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas monosomy of X is the only such type of aberration that may be compatible with life. It is hypothesized that two successive malsegregation events must occur in early development [...]

1474 13413

Open Access Research Article

“Not Private at All:” Comparative Perspectives on Privacy of Genomic Data, Family History Data, Health-Related Data, and Other Personal Data

Received: 09 August 2022;  Published: 31 October 2022;  doi: 10.21926/obm.genet.2204167

Abstract

People choose how and if to generate and disclose not just personal genomic data, but also multiple other types of personal health and non-health related data. To contextualize choices about genetic testing and genetic data disclosure, we explored perspectives of genomic data privacy and disclosure compared to other types of data. We conducted a qualitative focus group study with adult members of an integrated U.S. health system, using administrative data to stratify our sample by age and by race/ethnicity. Discuss [...]

1517 8770

Open Access Research Article

Cytoplasmic Microinjection of piggyBac Transposase mRNA and Transposon Vectors for Efficient In Vitro Production of Transgenic Porcine Parthenotes

Received: 07 July 2022;  Published: 29 September 2022;  doi: 10.21926/obm.genet.2203166

Abstract

The efficient production of transgenic (Tg) piglets has remained a challenge in the field of domestic animal studies. Unlike mice, the pronuclei of pig zygotes cannot be easily studied because of the abundance of lipid droplets. Therefore, the zygotes must be briefly centrifuged before pronuclear injection (PNI) to move the lipid droplets to the periphery of the zygote for PNI-mediated production of Tg piglets. However, this procedure is temporal because lipid droplets return to the original space during PNI, hampe [...]

1644 12388

Open Access Review

Newborn Screening in Gaucher Disease: A Bright and Complicated Future

Received: 20 July 2022;  Published: 26 September 2022;  doi: 10.21926/obm.genet.2203165

Abstract

Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case of neuronopathic Gaucher disease types 2 and 3. Newborn screening, arguably the most important public health initiative to date, has been regularly conducted on n [...]

1431 12022

Open Access Technical Note

Successive Detection of Telomerase by IHC and Assessment of Telomere Length by Q-FISH in Paucicellular Cumulus Samples from Cumulus-Oocyte Complexes Obtained in Assisted Reproduction Programs

Received: 13 May 2022;  Published: 23 September 2022;  doi: 10.21926/obm.genet.2203164

Abstract

This paper suggests an approach for the use of a single paucicellular histological sample to investigate two characteristics indicative of the cell’s functional potential: 1) the content of telomerase reverse transcriptase (TERT) and 2) the telomere length. An algorithm has been suggested for the successive detection of the catalytic telomerase subunit with immunohistochemical staining and assessment of telomere length with Q-FISH on the same set of cells. The described approach uses three incontestable advantages [...]

1235 7767

Open Access Opinion

High-Altitude Pulmonary Edema in the Context of COVID-19

Received: 18 July 2022;  Published: 09 September 2022;  doi: 10.21926/obm.genet.2203163

Abstract

High-altitude pulmonary edema (HAPE) and COVID-19 pneumonia are different diseases, but HAPE-susceptible individuals (whose susceptibility often has a genetic basis) can also suffer from severe COVID-19. We hypothesized that certain pathogenic mechanisms might overlap if such a coincidence occurs, since these patients could react to alveolar hypoxia with a more intense and heterogeneously distributed pulmonary vasoconstriction than non-HAPE-susceptible patients. It is also not known how future altitude acclimatizat [...]

1293 10298

Open Access Review

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age and Obstetric History

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162

Abstract

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspec [...]

2391 15248

Open Access Review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161

Abstract

Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described. This review has a focus on the screening methodologies, including the principle of the assay, the transition from the initial bacteria inhibition test to the modern fluorometr [...]

1948 20506

Open Access Interview

An Interview with Dr. Mark Stoneking

Received: 07 July 2022;  Published: 13 July 2022;  doi: 10.21926/obm.genet.2203160

1062 7574

Open Access Original Research

First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10

Received: 25 March 2022;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202159

Abstract

After being established in 1967, the commercially available murine Leydig cell tumor line I-10 has been used in almost 50 published studies. I-10 has not been characterized, either at the chromosomal/ cytogenetic level or the genetic level, similar to many other murine tumor cell lines. In this study, we performed molecular karyotyping and multicolor banding-based molecular cytogenetics. A slightly hyperdiploid karyotype with 43 chromosomes was described. The main aberrations comprised several unbalanced translocat [...]

1308 8551

Open Access Research Article

Molecular Genetic Study on VNTR-polymorphism of Two Cytokine Genes Antagonist of the Receptor of Interleukin 1 (rs2234663) and Interleukin 4 (rs8179190) Associated with Dental Caries in Children

Received: 24 December 2021;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202158

Abstract

In this study, we investigated VNTR polymorphisms in intron 2 of the IL1RN gene (rs2234663) and intron 3 of the IL4 gene (rs8179190) related to the development of caries in school children (N = 196) with mixed bite dentition from Krasnodarskii Krai. The genotypes A1/A1 and L/L (L-"long" alleles) (rs2234663) provided resistance to the most intensive form of dental caries. The groups of children with DFC (decompensated form of caries) were significantly different from the pooled group SFC (subcompensated form of cari [...]

1301 9159

Open Access Original Research

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

Received: 28 March 2022;  Published: 22 June 2022;  doi: 10.21926/obm.genet.2202157

Abstract

Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has been used for preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) in carriers of RTs. The data obtained by performing FISH for PGT-SR can be [...]

1726 11744

Open Access Review

46,XX/46,XY Chimerism & Human Sexual Development

Received: 23 April 2022;  Published: 15 June 2022;  doi: 10.21926/obm.genet.2202156

Abstract

The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occurring chimerism have been documented in humans: blood group chimerism, microchimerism, and fusion chimerism. Fusion chimerism may occur through several means. Sex-chromosome discordant chimerism refers to individuals with [...]

3881 48446

Open Access Original Research

Anti-cancer Drug Susceptibility of Breast Cancer Cells Incubated on Electrospun Polymeric Fiber Substrates

Received: 01 March 2022;  Published: 14 June 2022;  doi: 10.21926/obm.genet.2202155

Abstract

In this study, we examined the effect of a combination of surface topographies (fiber alignments) and different stiffness of poly(L-lactic acid) (PLLA) substrates on the direct relationship between anti-cancer drug (CDDP) sensitivity for MDA-MB-231 cells and mesenchymal properties under both normal and hypoxic conditions. In addition, we studied the induction of epithelial–mesenchymal transition (EMT). The CDDP treatment under hypoxia indicated poor adhesion of MDA-MB-231 cells as well as significant repression of [...]

1864 8852

Open Access Review

Mechanisms and Approaches for Salt Tolerance in Turmeric: A Breeding Perspective

Received: 22 March 2022;  Published: 23 May 2022;  doi: 10.21926/obm.genet.2202154

Abstract

India is home to several medicinal herbs including turmeric. Turmeric is one of the major produces of India, primarily due to its unique and valuable medicinal and therapeutic properties. However, the growth and yield of turmeric are greatly affected by salt stress in certain parts of the country, especially those near water bodies where significant yield losses have been reported. To mitigate these losses caused by salt stress, certain plant breeding methods, transgenic approaches, and candidate genes along with i [...]

1865 13806

Open Access Review

From Ovarian Development to Folliculogenesis: Essential Networks Sustaining the Ovarian Reserve

Received: 25 August 2021;  Published: 26 April 2022;  doi: 10.21926/obm.genet.2202153

Abstract

In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting gonadal cells or germ cells of both sexes. In this review, we highlighted some of the main gene networks and regulatory mechanisms involved in the plasticity of sex-determining pathways that help to establish a functiona [...]

1322 10582

Open Access Original Research

The Identification 5S nrDNA Unit Classes in Genera of Plants and Selected Non-Vertebrate Animals and Their Potential for the Study of Species Relationships

Received: 07 January 2022;  Published: 24 April 2022;  doi: 10.21926/obm.genet.2202152

Abstract

We have investigated the utility of the 5S nrDNA, a conserved, multicopy gene family organized into tandem repeats as a tool for genetic analyses in a wide variety of genera. Previous work in the Triticeae (Poaceae) demonstrated that the prior identification of unit classes based upon the 5S nrDNA NTS, greatly facilitates analysis. We investigated the potential of defining unit classes in other plant genera and several animal genera as a step towards future phylogenetic analyses. Our results demonstrate that in in [...]

1262 7920

Open Access Research Article

Electroporation-Based Non-Viral Gene Delivery to Adipose Tissue in Mice

Received: 21 January 2022;  Published: 11 April 2022;  doi: 10.21926/obm.genet.2202151

Abstract

Adipose tissue is distributed throughout the body as fat depots. The amount of adipose tissue increases with age. In mice, epididymal fat depots in males and gonadal fat depots in females are associated with the reproductive system. Regarding fat depots in females, the adipose tissue under the skin can be easily exposed via surgery when the ovary, oviduct, and uterus are pulled out and exposed. As handling adipose tissue is relatively easy, adipocytes might be good targets for genetic manipulation (including gene d [...]

2364 20415

Open Access Review

Molecular Marker Analysis of Genetic Diversity in Maize: A Review

Received: 25 July 2021;  Published: 21 March 2022;  doi: 10.21926/obm.genet.2201150

Abstract

Maize is consumed as a food and used as an industrial product in the form of starch, pharmaceuticals, alcoholic beverages, oil, cosmetics, and textiles. In ancient times, landraces were more popular due to the presence of high genetic variability, resistance to biotic and abiotic factors, and the heterogeneous nature of maize; however, it has been replaced by improved and uniform cultivars with a higher yield. Modern maize has more homogeneity that enhances its vulnerability to biotic and abiotic stresses. Thus, we [...]

4192 26821

Open Access Original Research

The Regulation of Non-Invasive Prenatal Testing (NIPT) in France: Continuity and Changes in the Development of Prenatal Testing

Received: 02 September 2021;  Published: 25 February 2022;  doi: 10.21926/obm.genet.2201149

Abstract

This article examines the regulation of the screening of fetal abnormalities in France before and after the implementation of the new technique of non-invasive prenatal testing (NIPT) in 2013. In addition, this article evaluates the effectiveness of the regulatory framework in addressing the ethical and social issues raised by this technique from a legal and sociological perspective. The analysis reveals that the regulations, consistent with that applied to other prenatal screening techniques, fail to take proper a [...]

1696 26912

Open Access Interview

An Interview with Dr. Joep Geraedts

Received: 17 February 2022;  Published: 22 February 2022;  doi: 10.21926/obm.genet.2201148

1019 6801

Open Access Research Article

Correlation of Mutational Signatures in Cancer Genes with General Signatures

Received: 07 December 2021;  Published: 13 February 2022;  doi: 10.21926/obm.genet.2201147

Abstract

The occurrence of various mutation patterns, such as changes in the DNA sequence and the loss of some sequences, is called a “mutational signature,” and they represent the molecular fingerprints that exist for the type of mutation occurring in a specific gene. Our study elucidates the correlations of mutational signatures in frequently mutated cancer genes with general mutational signatures previously found for different cancers. We hypothesized that the top twenty most frequently mutated genes (MFMG) of a cancer t [...]

1366 10020

Open Access Short Communication

Newborn Screening in Latin America: A Window on the Evolution of Health Policy

Received: 22 August 2021;  Published: 21 January 2022;  doi: 10.21926/obm.genet.2201146

Abstract

Investigating the historical origins of a well-accepted health program across a region, such as newborn screening in Latin America, has the potential to reveal the role of historically-specific drivers in shaping national health policy. We reviewed published reports on NBS in Latin America and interviewed newborn screening experts with experience in the region. We found trends suggesting that the decrease in infant mortality may be a prerequisite to investing in nationwide screening for rarer conditions. We also no [...]

1442 11213

Open Access Review

Anatomical Variation, Hominins, Species, and Self-Domestication

Received: 19 October 2021;  Published: 11 January 2022;  doi: 10.21926/obm.genet.2201145

Abstract

The evolution of hominins, members of the zoological tribe Hominini, has been a much-studied topic, and the construction of phylogenetic trees has been the key method in molecular evolutionary studies. How scientists determine the phylogenetic trees are governed by the assumptions they place on the construction of similarities and differences in morphological traits, the differences in the number of base pairs in the genomes, and the number of similar gene clusters that code for traits (haplotypes) or are error seq [...]

1925 13368

Open Access Editorial

Acknowledgement to Reviewers of OBM Genetics in 2021

Received: 05 January 2022;  Published: 06 January 2022;  doi: 10.21926/obm.genet.2201144

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2021. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

972 6445

Open Access Perspective

Understanding the Regulation of Transcription in Mental Illness

Received: 17 June 2021;  Published: 17 November 2021;  doi: 10.21926/obm.genet.2104143

Abstract

Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. Moreover, recent studies on the perturbation of transcription, including chromatin remodeling, in mental illness emphasized the importance of single-cell qPCR as an investigatory method that bolstered psychiatry. This t [...]

1319 8812

Open Access Original Research

Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder

Received: 07 September 2021;  Published: 03 November 2021;  doi: 10.21926/obm.genet.2104142

Abstract

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’ [...]

1612 10898

Open Access Original Research

Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers

Received: 17 May 2021;  Published: 29 October 2021;  doi: 10.21926/obm.genet.2104141

Abstract

The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether the health of ancestors of boys from whom the relevant X chromosome was inherited differed in any way according to the number of FRAXE repeats. Numbers of FRAXE rep [...]

1596 10397

Open Access Opinion

Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

Received: 15 July 2021;  Published: 09 October 2021;  doi: 10.21926/obm.genet.2104140

Abstract

In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objections to newborn screen [...]

1646 10935

Open Access Review

Addressing Uncertainty: The Emergence of the CRMS/CFSPID Diagnostic Category Following Newborn Screening for Cystic Fibrosis

Received: 29 July 2021;  Published: 29 September 2021;  doi: 10.21926/obm.genet.2103139

Abstract

This article uses cystic fibrosis as a case study to examine how physicians and scientists have navigated uncertainty following newborn screening. Despite the many benefits of newborn screening, including earlier diagnosis, therapeutic intervention, and a reduced diagnostic odyssey, this public health approach also comes with challenges. For example, physicians began to document infants with indeterminate diagnoses - those with a positive screen who did not clearly fit into the cystic fibrosis or “normal” categorie [...]

1589 11744

Open Access Review

Quadruple Screening in the Age of Cell-Free DNA: What are We Losing?

Received: 16 June 2021;  Published: 27 September 2021;  doi: 10.21926/obm.genet.2103138

Abstract

Cell-free DNA has emerged as the most reliable, non-invasive prenatal screening tool for fetal aneuploidies. It has come to replace the previously widely used quadruple screen offered in the second trimester of pregnancy. This change comes with improved detection for aneuploidy but also presents potential gaps in prenatal diagnosis including detection of open fetal defects and emerging data on prediction of adverse pregnancy outcomes. This review article provides a historical summary of the quadruple marker screen [...]

1520 22901

Open Access Research Article

Plant Breeding Integrated with Genomic-Enabled Prediction

Received: 09 June 2021;  Published: 15 September 2021;  doi: 10.21926/obm.genet.2103137

Abstract

Plant breeding programs have used conventional breeding methods, such as hybridization, induced mutations, and other methods to manipulate the plant genome within the species' natural genetic boundaries to improve crop varieties. However, repeatedly using conventional breeding methods might lead to the erosion of the gene reservoir, thereby rendering crops vulnerable to environmental stresses and hampering future progress in crop production, food and nutritional security, and socio-economic benefits. Integrating in [...]

1674 15396

Open Access Review

Prenatal Testing – What Is It Good For? A Review and Critique

Received: 22 June 2021;  Published: 01 September 2021;  doi: 10.21926/obm.genet.2103136

Abstract

The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease through selective abortion, allowing [...]

2251 18086

Open Access Original Research

About Cryptic Acrocentric Pericentromeric Abnormalities in Infertile

Received: 16 April 2021;  Published: 25 August 2021;  doi: 10.21926/obm.genet.2103135

Abstract

Cryptic balanced chromosomal aberrations can be an underlying cause of infertility. In 2003 Cockwell and coworkers highlighted the relevance of euchromatic pericentric regions of acrocentric chromosomes that may be a yet ignored genomic region hosting cryptic rearrangements. Here we offer the first follow-up study to further explore this idea. Two specific molecular cytogenetic probe sets were established to elucidate such cryptic rearrangements together with chromosomal heteromorphisms of acrocentric centromeres. [...]

1539 8776

Open Access Technical Note

Encoding, Regression, and Classification of Transcription Factors’ Specificity and Methylation Effects

Received: 01 February 2021;  Published: 16 August 2021;  doi: 10.21926/obm.genet.2103134

Abstract

The methylation effects on protein-DNA interactions, which can be perceived as a special kind of specificity of transcription factors, have been successfully quantified in the last years by various methods. In this work, I give a summary about the sequence encoding scheme, the underlying additive model about specificity and methylation sensitivity, and the regression strategy to analyze Methyl-Spec-seq data. Then I explain why given the current experimental setup, it is more appropriate to model the methylation eff [...]

1712 8405

Open Access Review

Epigenetics and Medicine

Received: 23 March 2021;  Published: 30 July 2021;  doi: 10.21926/obm.genet.2103133

Abstract

“Epigenetics is the study of how your behaviors and environment can cause changes that affect the way your genes work. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence” (https://www.cdc.gov/genomics/disease/epigenetics.htm). Epigenetic interactions, along with the genetic expression in innate cells, change the structure and function of chromatin, and thus, turn the genes on and off. Epigenetic changes influence dise [...]

1861 10243

Open Access Editorial

Genetic Screening of Cervical Cancer

Received: 29 June 2021;  Published: 19 July 2021;  doi: 10.21926/obm.genet.2103132

Abstract

Medical genetics plays an important role in the screening and prevention of numerous diseases. Thus, it is important to develop effective screening and prevention programs and improve the assessment of the susceptibility of diseases. The development of screening and prevention programs depends on the identification of early biomarkers (including functional and behavioral) for the risk and onset of the disease, and such programs need to be designed according to internationally accepted criteria. Cervical cancer repr [...]

2189 14240

Open Access Review

Molecular Mechanisms of Feline Cancers

Received: 08 December 2020;  Published: 24 May 2021;  doi: 10.21926/obm.genet.2102131

Abstract

Feline cancers have not been studied as extensively as canine cancers, though they may offer similar advantages, with cats being immunocompetent animals subject to similar conditions as their human counterparts. The most common feline cancers include lymphoma, squamous cell carcinoma, sarcoma, and mammary tumors, though mast cell tumors were also investigated in this review. As the pathogenesis of many feline cancers remains unclear, this study seeks to elucidate some molecular mechanisms behind feline cancers. Fel [...]

2979 24840

Open Access Opinion

Imagining Life with a Genetic Disorder: The Challenge of Evaluating Health States that Exist from Birth

Received: 29 March 2021;  Published: 14 May 2021;  doi: 10.21926/obm.genet.2102130

Abstract

This article explores difficulties encountered by those with no personal experience of a chronic disease or disability in accurately evaluating the quality of life with a condition present from birth. In most countries, cost-effectiveness analysis relies on ratings of health states by members of the general population, who must try to imagine what life for those affected is like based on (usually brief) descriptions of the conditions. That task is challenging for reasons that have been well-discussed in the literat [...]

1957 10097

Open Access Original Research

Role of DNA Damage and MMP Loss in Radiosensitization-Induced Apoptosis by Ellagic Acid in HeLa Cells

Received: 22 September 2020;  Published: 14 May 2021;  doi: 10.21926/obm.genet.2102129

Abstract

Ellagic acid (EA) is a polyphenol found in grapes, pomegranates, walnuts, etc. exhibits anti-cancer properties. The current study was conducted to understand the radiosensitizing role of EA on HeLa cells. Monotherapy of EA and radiation was initially studied on HeLa cells. The addition of EA before the radiation treatment subsequently made DNA more susceptible to damage thereby developing DNA beaks, which are known to be lethal for cell survival. This was evaluated by performing comet and γ-foci formation ass [...]

1553 13433

Open Access Original Research

Modulation of Gene Expression in Human Breast Cancer MCF7 and Prostate Cancer PC3 Cells by the Human Copper-Binding Peptide GHK-Cu.

Received: 20 January 2021;  Published: 06 April 2021;  doi: 10.21926/obm.genet.2102128

Abstract

The human copper-binding peptide GHK-Cu is a naturally occurring small plasma tripeptide (glycyl-l-histidyl-l-lysine) with a high affinity for copper (2+). GHK-Cu has multiple biological effects. It is known to stimulate regeneration of skin, nervous tissue, bones, lungs and liver, protect liver from oxidative damage, restore activity of irradiated fibroblasts, reduce inflammation and increase levels of antioxidant enzymes. Recent studies established that GHK modulates activity of a number of genes. It has been sho [...]

5044 62812

Open Access Review

Current Progress in Cancer Immunotherapies Using Small Molecules Targeting PD-L1 Stability

Received: 11 January 2021;  Published: 24 March 2021;  doi: 10.21926/obm.genet.2101127

Abstract

PD-L1 is an immune checkpoint protein that is frequently overexpressed by the cells in the tumor microenvironment. PD-L1 binds to PD-1 present on the activated antitumor T-cells, which allows for tumor immune escape. The ability of the PD-1/PD-L1 axis to suppress antitumor immunity enables its application as a potential target for small-molecule-based immunotherapies. Targeting the PD-L1-mediated tumor immune evasion represents a promising approach for immune checkpoint blockade therapies. However, the existing mon [...]

2073 15470

Open Access Communication

Development of a Novel Pipette Tip-Aided Cell Cloning Method for The Effective Isolation of Genome-Edited Porcine Cell

Received: 11 October 2020;  Published: 10 March 2021;  doi: 10.21926/obm.genet.2101126

Abstract

Direct colony cloning of adherent mammalian cells using rings or dilution cloning has been used frequently for obtaining stable transfectants after gene delivery. As an alternative to these methods, successful isolation of the cells in a single colony is possible by placing a trypsin-immersed small paper disk onto the colony and subsequently picking up the paper with the assumption that it carries the trypsinized cells. However, the cloning success using this technique largely relies on the cell type used. In the p [...]

1961 11205

Open Access Review

Translating RNA Splicing Analysis into Diagnosis and Therapy

Received: 31 December 2020;  Published: 08 March 2021;  doi: 10.21926/obm.genet.2101125

Abstract

A large proportion of rare disease patients remain undiagnosed and the vast majority of such conditions remain untreatable whether diagnosed or not. RNA splicing analysis is able to increase the diagnostic rate in rare disease by identifying cryptic splicing mutations and can help in interpreting the pathogenicity of genomic variants. Whilst targeted RT-PCR analysis remains a highly sensitive tool for assessing the splicing effects of known variants, RNA-seq can provide a more comprehensive transcriptome-wide analy [...]

2051 16880

Open Access Review

Genomic Analysis for Citrus Disease Detection

Received: 26 October 2020;  Published: 18 February 2021;  doi: 10.21926/obm.genet.2101124

Abstract

Citrus is an important group of globally produced fruit crops, holding great economic, cultural, and health value. Belonging to the Rutacaeae family, the genus Citrus includes some of the most iconic and widely appreciated variants of fruits such as the orange, lemon, lime, grapefruit, and tangerine. The spread of various diseases threatens the worldwide production of citrus fruit crops. Diseases such as Asiatic citrus canker, citrus tristeza virus, citrus leprosis, and especially citrus greening disease (also know [...]

2211 15762

Open Access Communication

In vitro Electroporation in the Presence of CRISPR/Cas9 Reagents as a Safe and Effective Method for Producing Biallelic Knock-Out Porcine Embryos

Received: 01 September 2020;  Published: 18 February 2021;  doi: 10.21926/obm.genet.2101123

Abstract

The production of genetically modified (GM) pigs is considered valuable in biomedical research for the development of model animals for various diseases and pigs with resistance against viral infection. The porcine genome may be modified using several methods, such as somatic cell nuclear transfer (SCNT) using GM cells as the SCNT donor, direct injection of the transgene or the genome editing components (GEC) into fertilized eggs referred to as zygotes, the in vitro electroporation (EP) of the zygotes in the presen [...]

2463 13307

Open Access Editorial

Acknowlegement to Reviewers of OBM Genetics in 2020

Received: 07 January 2021;  Published: 07 January 2021;  doi: 10.21926/obm.genet.2101122

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2020. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition di [...]

1189 6109

Open Access Short Communication

Successful i-GONAD in Brown Norway Rats by Modification of in vivo Electroporation Conditions

Received: 23 September 2020;  Published: 03 December 2020;  doi: 10.21926/obm.genet.2004121

Abstract

Improved-Genome editing via Oviductal Nucleic Acids Delivery (i-GONAD) was developed for in situ genome editing of the preimplantation embryos present within the oviductal lumen of mice. This method is based on intra-oviductal instillation of genome editing components and subsequent in vivo electroporation (EP) in the entire oviduct. Therefore, i-GONAD differs from the previous methods (i.e., zygote microinjection and in vitro EP) in producing genome-edited mice, which relied on ex vivo handling of preimplantation [...]

2646 13667

Open Access Original Research

Genetic Stability, Inheritance Patterns and Expression Stability in Biotech Crops

Received: 11 September 2020;  Published: 02 December 2020;  doi: 10.21926/obm.genet.2004120

Abstract

Demonstration of the stability of traits newly introduced into a plant genome via genetic engineering approaches comprise a significant portion of the safety assessment that these products undergo prior to receiving the requisite regulatory approvals enabling commercial authorization. Different regions of the world have different regulatory requirements and many ask similar questions from multiple and overlapping perspectives. The entire central dogma, that is stability at the DNA level, mRNA level and protein leve [...]

2004 12996

Open Access Review

In vivo Hepatocyte Genome Manipulation via Intravenous Injection of Genome Editing Components

Received: 09 August 2020;  Published: 16 November 2020;  doi: 10.21926/obm.genet.2004119

Abstract

The liver is a major organ with a wide range of functions, including detoxification, protein synthesis, and bile production. Liver dysfunction causes liver diseases such as hepatic cirrhosis and hepatitis. To explore the pathogenesis of these liver diseases, and the therapeutic agents against them, mice have been widely used as animal models. Genetic manipulation is easy in mice via the administration of nucleic acids (NAs) in the tail-vein. In particular, hydrodynamics-based gene delivery (HGD) is a method based o [...]

2244 12411

Open Access Original Research

H-Ras Pre-mRNA Contains A Regulatory Non-coding RNA

Received: 25 June 2020;  Published: 16 November 2020;  doi: 10.21926/obm.genet.2004118

Abstract

Non-coding RNAs (ncRNAs) have emerged as one of the most abundant regulatory molecules. However, their roles and functions are significantly different from those of proteins. Moreover, around 95% of the human genome contains non-coding DNA. ncRNAs contribute by far the majority of human transcriptional units, and the functions of the most are yet unknown. Here, we highlight that an important RNA sequence region, encompassing an exon-intron hairpin loop (also called IDX-rasISS1), of the H-Ras pre-mRNA may encode an [...]

1951 8692

Open Access Research Article

EBF1 Exhibits Crosstalk Regulation with ERα and ERβ in Some Hormone-Based Cancers

Received: 26 June 2020;  Published: 07 October 2020;  doi: 10.21926/obm.genet.2004117

Abstract

Estrogen-based cancers affect a substantial portion of the female population in the United States. While multiple studies have examined the effect of estrogen receptor alpha (ERα/ESR1) in cancer, the effects of ERβ/ESR2 are not as well understood in tumor tissues. Furthermore, there are few studies examining the role of specific binding partners of the estrogen receptors, such as early B-cell factor 1 (EBF1). EBF1 has been shown to have a role in B cell development and differentiation and is also know [...]

1944 10251

Open Access Review

Oncogenes Orchestrate Immunosuppressive Stroma in Gastric Adenocarcinoma

Received: 30 June 2020;  Published: 16 September 2020;  doi: 10.21926/obm.genet.2003116

Abstract

Gastric adenocarcinoma (GAC) is among the three most common cancers in the world. The majority of GAC patients are diagnosed in an advanced stage and have a median survival of ~9 months. There are limited effective therapeutic strategies available in the clinic and currently U.S. Food and Drug Administration (FDA) approved immune therapy is programmed death-1 (PD-1) antibodies (e.g. pembrolizumab) but only a few patients seem to benefit. Transformation to cancer occurs when multiple genes and cellular pathways are [...]

2041 9546

Open Access Opinion

Breeding “CRISPR” Crops1

Received: 21 April 2020;  Published: 13 August 2020;  doi: 10.21926/obm.genet.2003115

Abstract

The challenges which face the world today can be summed up in a few words: An increasingly congested world with dwindling areas of viable cultivated land and accelerating climate instability. The combined effect of these realities, together with the trend of striving to extend the average human life, puts the world on the path toward future catastrophe. This situation makes it imperative to seek realistic and practical solutions, which must be able to address food shortages and climate problems in a timely manner. [...]

2013 9562

Open Access Review

Detection of Circulating Tumor DNA in Solid Tumors

Received: 27 May 2020;  Published: 06 August 2020;  doi: 10.21926/obm.genet.2003114

Abstract

Cancer is characterized by sequential and progressive genetic and epigenetic alterations in key proto-oncogenes and tumor suppressor genes, which ultimately lead to tumor development. Advances in the technology of analysis of molecular mechanisms have increased the efficiency of clinical management of cancer patients. Recent years have witnessed a progressive development in technologies that enable the detection of specific molecular abnormalities associated with various types of solid tumors in body fluids, a proc [...]

2024 10989

Open Access Review

“Evolution” of Embryogenesis: Complexity of the Early Developmental Stages in the Animal Kingdom

Received: 16 March 2020;  Published: 02 July 2020;  doi: 10.21926/obm.genet.2003113

Abstract

Multicellularity has gained the advantage over the unicellular world by expanding the number of increasingly more complex tissues that achieve advanced and specific functions. This same event gave rise to the most evolved group of organisms, namely mammals. Even though the complexity of multicellular organisms does not necessarily provide them with excellent adaptation modes performed by unicellular and prokaryotic organisms, this complexity per se stands as one of the greatest phenomena in biology. However, there [...]

2794 18530

Open Access Original Research

Genetic Variants of Targetable Cancer-related Genes in Vestibular Schwannomas

Received: 02 May 2020;  Published: 28 June 2020;  doi: 10.21926/obm.genet.2002112

Abstract

Background: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the genome of vestibular schwannomas is not well known. There is an imminent need of developing effective chemotherapeutic agents either as a primary treatment modality or as adjuvant therapy for these patients. Methods: Here [...]

2064 10697

Open Access Review

Genetic Explanations for Fertility Disorders

Received: 02 May 2020;  Published: 23 June 2020;  doi: 10.21926/obm.genet.2002111

Abstract

This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable genetic abnormalities causing infertility were chromosomal abnormalities in both males and females. However, the number of monogenetic disorders, which play a role in disturbing fertility, such as single gene defects or comple [...]

2071 11709

Open Access Review

Splicing HAC1/XBP1 mRNAs in Cytoplasm: The Non-Conventional mRNA Splicing Reaction in the Unfolded Protein Response

Received: 23 March 2020;  Published: 22 May 2020;  doi: 10.21926/obm.genet.2002110

Abstract

The majority of the secretory and transmembrane proteins are folded in the endoplasmic reticulum (ER). When unfolded proteins accumulate in the ER, a collective of signalling pathways, termed the unfolded protein response (UPR), are activated to restore the ER protein folding homeostasis. The most evolutionarily conserved branch of UPR is mediated by the kinase/endoribonuclease Ire1. Ire1 mediates a cytosolic non-conventional mRNA splicing reaction of HAC1 mRNA in yeast and XBP1 mRNA in mammalian cells. The spliced [...]

2581 13201

Open Access Technical Note

HER2 FISH for Breast Cancer: Advances in Quantitative Image Analysis and Automation

Received: 02 March 2020;  Published: 13 May 2020;  doi: 10.21926/obm.genet.2002109

Abstract

Quantitative image analysis of the status of human epidermal growth factor receptor 2 (HER2) by both immunohistochemistry staining and fluorescent in situ hybridization (FISH) is important for the treatment of breast cancer. Guidelines of the American Society for Clinical Oncology and College of American Pathologists, for HER2 FISH, have evolved over time to improve test accuracy, and efforts have been made to better address the problems with the interpretation that are encountered with borderline-positive cases. S [...]

2429 21789

Open Access Research Article

Professionals’ Views on Offering Pre-Natal Testing for Adult Onset Cancer Susceptibility. Reconciling Personal and Professional Ethical Conflicts, Coping Strategies and Need for Policy Transparency

Received: 30 December 2019;  Published: 26 April 2020;  doi: 10.21926/obm.genet.2002108

Abstract

This paper explores views of healthcare professionals (HCPs) in genetics and foetal medicine settings on offering pre-natal diagnosis (PND) for adult onset cancer susceptibility (AOCS) genes. Study participants came from different disciplinary backgrounds and all had considered implications of offering PND for AOCS, directly or indirectly, from professional and personal perspectives. Foetal medicine and genetics teams are accustomed to offering PND with the possibility of terminating an affected foetus on the basis [...]

2009 10567

Open Access Original Research

MSIGNET: A Bayesian Approach for Disease-associated Gene Network Identification

Received: 19 October 2019;  Published: 07 April 2020;  doi: 10.21926/obm.genet.2002107

Abstract

The analysis of gene networks and signalling pathways plays a key role in understanding gene functions, i.e., their effects on the development of a particular disease. Yet, for many heterogeneous diseases, the number of known disease-associated genes is limited. Identifying disease-associated genes is still an open challenge. To understand the functions of genes associated with a disease, we develop a Metropolis-Hastings sampling based SIGnificant NETwork (MSIGNET) identification approach. MSIGNET integrates diseas [...]

1995 11028

Open Access Case Report

Knight in Splicing Armor: Alternative Splicing as a Neuroprotective Mechanism

Received: 13 January 2020;  Published: 20 March 2020;  doi: 10.21926/obm.genet.2001106

Abstract

By adjusting gene expression in response to environmental changes, cells can optimize fitness as needed. Alternative splicing is one of the most important post-transcriptional regulation steps, broadly involved in diverse physiological and pathological conditions. Here, we present 5 cases of alternative splicing conferring increased neuroprotection through diverse mechanisms. These examples highlight the enormous power of alternative splicing in maintaining viability of neurons. From pre-mRNA secondary structure al [...]

1887 11934

Open Access Editorial

Epigenetics of Obesity and Diabetes: Emerging Roles and Mechanisms of Non-coding RNAs

Received: 16 March 2020;  Published: 17 March 2020;  doi: 10.21926/obm.genet.2001105

1813 9450

Open Access Editorial

Plant Genetics and Gene Study

Received: 03 March 2020;  Published: 04 March 2020;  doi: 10.21926/obm.genet.2001104

1861 10256

Open Access Communication

Effective Delivery of Cancer Vaccines with Oxidatively Photo-Inactivated Transgenic Leishmania for Tumor Immunotherapy in Mouse Models

Received: 29 December 2019;  Published: 24 February 2020;  doi: 10.21926/obm.genet.2001103

Abstract

The parasitic protozoa in the genus of Leishmania have exceptionally favorable attributes for exploitation as a vehicle for safe and effective delivery of transgenically incorporated vaccines against infectious and malignant diseases. A dual suicidal mechanism was installed in Leishmania via genetic and chemical engineering in vitro for accumulation of photosensitizers, rendering them sensitive to dim light for inactivation. Leishmania so inactivated are non-viable, but immunologically competent to deliver vaccines [...]

1959 10395

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