by Sean J. O’Sullivan

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

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 [...]

by Mariette Kokolo  and Montse Bach-Elias

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

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 [...]

by Sopnil Ahmed Jahin  , Biswajit Das  , Adrita Abdullah  , Sadia Akter  , Mohammad Abu Kawsar Sarower Siddique  and Mohammad Anwar Hossain

Received: 02 August 2024;  Published: 01 November 2024;  doi: 10.21926/obm.genet.2404270

Drought and phosphorus (P) deficiency stress are two significant natural abiotic stresses restricting rice growth and yield worldwide. Developing rice varieties tolerant to drought and low P stress is crucial for sustainable agricultural production. To address these issues, two separate experiments were conducted using selected advanced rice breeding lines to study the impact of drought and low P stress on yield-attributing traits. The first experiment evaluated the drought stress tolerance of five advanced lines ( [...]

by Anna Passaro  , Antonio Zullo  , Mariacarla Di Gioia  , Enza Curcio  and Fabrizio Stasolla

Received: 27 January 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403250

Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternative Communication (AAC) systems, particularly for neurological patients with motor and verbal impairments. This narrative review aimed to evaluate studies conducted on the use of ETT to improve cognitive abilities in girls with RTT [...]

by Shaymaa Azawi  , Lisa-Marie Barf  , Thomas Liehr  , Stefanie Kankel  and Martina Rincic

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

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 [...]

by Rositsa Hristova  , Dimka Georgieva  , Albena Staynova  and Valeria Hadjidekova

Received: 14 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.genet.1804051

Background: A radiation accident occurred on 14 June 2011 in an industrial facility in Bulgaria with a cobalt source (137 TBq) that was used to sterilize equipment. Five people received doses exceeding 1Gy, which led to the development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the average acute whole-body doses estimated for the five patients ranged from 1.2 to 5.6 Gy. The purpose of this study was to evaluate induced chromosome aberrations in vivo four months af [...]

by Masahiro Sato  , Emi Inada  , Satoshi Watanabe  , Issei Saitoh  , Naoko Kubota  , Yoko Iwase  , Kazunori Morohoshi  and Shingo Nakamura

Received: 31 August 2025;  Published: 24 November 2025;  doi: 10.21926/obm.genet.2504317

An episomal vector is a plasmid- or virus-based vector that is present extrachromosomally in cells after transfection. Although it disappears during cell proliferation, it can exist in non-dividing cells, such as neuronal and muscular cells, and continues to express a gene of interest (GOI). Such episomal vectors are usually based on sequences from DNA viruses such as bovine papillomavirus 1 and Epstein-Barr virus. When cells are transfected with an episomal vector harboring a drug-resistance gene and subsequently [...]

by Dicky Moch Rizal  , Ika Setyawati  , Arya Adiningrat  , Agus Widiyatmoko  , Supriyatiningsih  and Nandia Septiyorini

Received: 09 October 2023;  Published: 27 February 2024;  doi: 10.21926/obm.genet.2401216

Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male patients identified with azoospermia and oligoasthenoteratozoospermia (OAT) based on their sperm analysis, who visited andrology polyclinics in several hospitals in Yogyakarta Province between March 2021 to August 2022. Stu [...]

by Zheng Zuo

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

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 [...]

by Kazuki Mochizuki  , Ayumi Osaki  , Yuko Inamochi  and Toshinao Goda

Received: 18 December 2017;  Published: 30 October 2018;  doi: 10.21926/obm.genet.1804046

Background: Histone modifications, including acetylation and H3 lysine 4 (K4) methylation, are thought to be associated with transcriptional activation during differentiation. Methods: mRNA and histone modifications around the sucrase-isomaltase (SI) gene in Caco-2 cells (a small intestine cell line) during differentiation were determined by qRT-PCR and chromatin immunoprecipitation, respectively. Results: Mono-, di-, and tri-methylation of histone H3K4 on the SI gene correlated with the induction of SI gene expres [...]

by Joni Indah Sari  , Nydia Rena Benita Sihombing  , Nani Maharani  , Tri Indah Winarni  and Agustini Utari

Received: 30 December 2024;  Published: 14 February 2025;  doi: 10.21926/obm.genet.2501285

DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic microdeletion in humans, with an incidence rate of 1:3000 to 6000 live births. Early detection and diagnosis of DiGeorge syndrome are challenging to clinicians due to its phenotype variability. We report two cases of DiGeorge syndrome, each demonstrating a different combination of clinical phenotypes. Two girls (2 years-3 months old and 2 years-2 months old) were diagnosed with 22q11.2DS following chromosomal microarray anal [...]

by Faten Dhawi

Received: 20 February 2024;  Published: 20 May 2024;  doi: 10.21926/obm.genet.2402235

Pearl millet (Pennisetum glaucum), a vital cereal crop renowned for its drought tolerance, is a cornerstone for smallholder farmers in arid and semi-arid regions, ranking as the fifth most significant cereal globally. Despite its resilience, the molecular mechanisms underlying its tolerance to heat stress remained elusive. To address this knowledge gap, we subjected ten-day-old pearl millet seedlings to an unprecedented temperature of 50°C for 60 seconds. Subsequent next-generation RNA sequencing aimed to unrav [...]

by Nuchanart Suntornnont  , Ammaraluk Kovavisarach  and Rachaneekorn Tammachote

Received: 05 July 2024;  Published: 06 January 2025;  doi: 10.21926/obm.genet.2501279

Keratinocytes are particularly vulnerable to oxidative stress due to their function as the primary natural protective barrier exposed to chemicals, rays, and pollution to stimulate the formation of free radicals in the body. Two factors of interest correlate with cellular senescence under oxidative stress. These include regulating antioxidant synthesis, which maintains free-radical homeostasis through the Nrf2 gene, and the prevention of telomere shortening, which involves the collaboration of human telomerase gene [...]

by Swaraj Mohanty  , Soumya Lipsa Rath  , Poornima Sharma  and Yasmin Ahmad

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

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 [...]

by Joep Geraedts

Received: 13 April 2017;  Published: 26 April 2017;  doi: 10.21926/obm.genet.1702003

Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology

by Upasana Ramphal  , Derek Tshiabuila  , Yajna Ramphal  , Jennifer Giandhari  , Carel van Heerden  , Cheryl Baxter  , Stephanie van Wyk  , Sureshnee Pillay  , Oluwakemi Laguda-Akingba  , Eduan Wilkinson  , Richard Lessells  and Tulio de Oliveira

Received: 01 March 2024;  Published: 30 May 2024;  doi: 10.21926/obm.genet.2402239

During the SARS-CoV-2 pandemic, next-generation sequencing (NGS) technologies like the Ion Torrent S5 and Illumina MiSeq, alongside advanced software, improved genomic surveillance in South Africa. This study analysed anonymized samples from the Eastern Cape using Genome Detective and NextClade, showing Ion Torrent S5 and Illumina MiSeq success rates of 96% and 94%, respectively. The study focused on genomic coverage (above 80%) and mutation detection (below 100), with the Ion Torrent S5 achieving 99% coverage comp [...]

by Abhay Vashishth  , Mohd Shuaib  , Tanya Bansal  and Shashank Kumar

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

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 [...]

by Hana Alharbi  and Miao He

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

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 [...]

by Buti Obaid Saeed Alfalahi  , Imane Lamdjad  , Mustafa Alnujaifi  , Noaman Atallah Alheety  and Abdul Qayyum

Received: 05 February 2024;  Published: 12 June 2024;  doi: 10.21926/obm.genet.2402242

Understanding the impact of melatonin (N-acetyl-5-methoxytryptamine) on plant gene expression is crucial for unlocking its full potential as a tool for crop improvement and stress tolerance. Melatonin has emerged to have several influences on the transcriptional activity of numerous genes, helping to orchestrate plant responses to environmental cues. Furthermore, it has been shown that melatonin signaling pathways control downstream gene expression to ensure proper plant growth and development. Therefore, clearing [...]

by Balamurugan Sivaprakasam  and Prasanna Sadagopan

Received: 24 December 2023;  Published: 14 June 2024;  doi: 10.21926/obm.genet.2402243

The present study introduces Snips2HLA-HsG, an integrated application designed for SNP genotype analysis and HLA allele type prediction. Leveraging attribute bagging, a powerful ensemble classifier technique from the Bioconductor HIBAG package, Snips2HLA-HsG offers a comprehensive response for genetic analysis. Accessible via https://snips2hla.shinyapps.io/hla_home/, the application distinguishes itself by prioritizing user-friendliness and integrating all-purpose functionalities, including sample preparation, mode [...]

by Emad Fadhal

Received: 18 January 2024;  Published: 24 May 2024;  doi: 10.21926/obm.genet.2402236

The RAS signaling pathway is a crucial cell transduction pathway central to transmitting signals from outside the cell to the cell nucleus and influencing fundamental biological mechanisms like cell growth, division, and specialization. This signaling pathway has recently received much attention in scientific research because of its involvement in various diseases, especially carcinogenesis. Our study identified the significance of crucial proteins in the RAS signaling cascade in cancer development and progression. [...]

by Bernard R. Baum  and Douglas A. Johnson

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

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 [...]

by Anna A. Pendina  , Mikhail I. Krapivin  , Irina D. Mekina  , Irina V. Aleksandrova  , Yanina M. Sagurova  , Evgeniia M. Komarova  , Mariia A. Ishchuk  , Andrei V. Tikhonov  , Olesya N. Bespalova  , Alexander M. Gzgzyan  , Igor Yu. Kogan  and Olga A. Efimova

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

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 [...]

by Maria Gladysheva-Azgari  , Natalia Slobodova  , Eugenia Boulygina  , Svetlana Tsygankova  , Fedor Sharko  and Irina Mitrofanova

Received: 16 October 2023;  Published: 24 November 2023;  doi: 10.21926/obm.genet.2304203

In this study, we report the complete chloroplast genome of Actinidia arguta var. purpurea. The chloroplast genome is 157,369 bp long as the circular (GC ratio is 37.22%). It has four subregions: a large single-copy (LSC) region of 88,609 bp, a small single-copy (SSC) region of 20,470 bp, and two inverted repeat regions (IRs) of 24,145 bp in each. The chloroplast genome of A. arguta var. purpurea contains a total of 113 unique genes, which are 79 protein-coding genes, 4 rRNA genes, and 3 [...]

by Marcel Mannens

Received: 24 April 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902075

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by OBM Genetics Editorial Office

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

An Interview with Dr. Yuri Shavrukov

by OBM Genetics Editorial Office

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

by Beom-Jin Lee  , Manal Hadi Ghaffoori Kanaan  , Sura Saad Abdullah  and Abdolmajid Ghasemian

Received: 04 July 2025;  Published: 18 August 2025;  doi: 10.21926/obm.genet.2503308

Cancer continues to be one of the leading causes of global death, and conventional therapies have limited efficacy because of their toxicity, drug resistance, and off-target effects. Plant-derived nanoparticles (PDNPs) have emerged as suitable alternatives as they have biocompatibility, biodegradability, and multifunctional therapy. In this review, we discussed the recent advancements in PDNPs for cancer therapy, including the green synthesis of PDNPs using phytochemical (flavonoids, terpenoids) reducing and cappin [...]

by Martina C Cornel

Received: 13 July 2017;  Published: 11 February 2018;  doi: 10.21926/obm.genet.1801013

Technology makes it possible to expand many of the current screening programs. Initiatives for preconception screening of carrier status of recessive diseases, prenatal screening of aneuploidies and neonatal screening were initially undertaken by targeting one or at most, a few, conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel testing, make it possible to increase the scope of these programs to include more disorders or markers. While inclusion of a larger number of condit [...]

by Walter Calderón-Gerstein  , Gabriela Torres-Samaniego  , Kevin Pazos-Sovero  , Mirella Calderón-Anyosa  , Merly Quisurco-Cárdenas  and Viviana Dorregaray-Lizárraga6

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

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 [...]

by Fausto Garmendia-Lorena

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

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, [...]

by Matthew Kostek  and Siyu Liu

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

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 [...]

by Donny Japly Pugesehan  , Vernando Yanry Lameky  and Agustinus Mathinus Luther Batlajery

Received: 12 June 2024;  Published: 21 August 2024;  doi: 10.21926/obm.genet.2403258

"Case Studies in the Ethics of Assisted Reproduction" explores the moral and ethical implications of assisted reproductive technologies (ART), such as in vitro fertilization (IVF), surrogacy, and genetic screening. These findings outline ethical dilemmas, including the importance of informed consent, and highlight a multidisciplinary approach involving law, bioethics, reproductive endocrinology, and reproductive biology. Using case studies, the findings address ethical challenges in ART practice, such as the transf [...]

by Tahere Mohammadpour  and Reza Mohammadzadeh

Received: 20 December 2023;  Published: 15 April 2024;  doi: 10.21926/obm.genet.2402227

Epilepsy, a prevalent neurological disorder, affects more than 50 million individuals worldwide and is characterized by recurring seizures. Nonsynonymous single nucleotide polymorphisms (nsSNPs) found within coding regions of epilepsy-related genes are believed to have significant impacts on protein function. This is due to their tendency to cause mutations in the encoded amino acids, which can subsequently lead to pathogenic alterations in protein structure and function. Consequently, nsSNPs have the potential to [...]

by Nirasha Nundkumar  , Sooboo Singh  and Moganavelli Singh

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

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 [...]

by Zahra Iran Pour Mobarakeh  , Mansoureh Nickbakht  , Susan Sabbagh  , Maryam Khorramizadeh  and Marzieh Amiri

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

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 [...]

by Nydia Rena Benita Sihombing  , Nani Maharani  , Agustini Utari  and Tri Indah Winarni

Received: 29 November 2024;  Published: 05 February 2025;  doi: 10.21926/obm.genet.2501284

Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. Chromosomal microarray revealed a 257.2 kb deletion of chromosome 1p36.31, with CAMTA1 as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and CAMTA1 intragenic deletion, including intellectu [...]

by Elizaveta Baranova  , Vladimir Druzhinin  , Ludmila Matskova  , Pavel Demenkov  , Valentin Volobaev  and Alexey Larionov

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

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 [...]

by Bahar Onaran Acar  , Hakan Şenarısoy  and Erhan Keyvan

Received: 31 July 2024;  Published: 05 January 2025;  doi: 10.21926/obm.genet.2501278

Antimicrobial resistance is one of the most significant threats to our present and future. Recently, it has been suggested that antibiotic-resistant microorganisms also exhibit resistance to heavy metals and disinfectants, and these resistance profiles may interact with each other. Microorganisms can be exposed to heavy metals and disinfectants in different ways in various environments. They are especially likely to be exposed to quaternary ammonium compounds used in the food industry or heavy metals due to tap wat [...]

by Elena V. Kudryavtseva  , Sergey N. Fedenev  , Ilia V. Kanivets  , Anastasiya N. Troitskaya  and Vladislav V. Kovalev

Received: 30 April 2024;  Published: 05 August 2024;  doi: 10.21926/obm.genet.2403255

Assisted reproductive technologies (ART), including in vitro fertilization (IVF), are modern medical technologies widely used in developed countries. A frequent complication of pregnancy resulting from ART is miscarriage. The leading cause of miscarriage, both sporadic and recurrent, is chromosomal abnormalities (CA) of the embryo. To compare the frequency and structure of chromosomal abnormalities (CA) of the embryo during miscarriages after IVF and natural conception. Retrospective cohort comparative study. The s [...]

by Sumant Chavda  , Subhranshu Sekhar Kar  and Alyaa Kamal Al Ramah

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

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 [...]

by Penko Spetsov  and Nadia Daskalova

Received: 27 February 2024;  Published: 09 April 2024;  doi: 10.21926/obm.genet.2402225

High-molecular-weight glutenin subunits (HMW-GS) encoded by alleles at the Glu-A1, Glu-B1, and Glu-D1 loci confer unique bread-making properties of common wheat (Triticum aestivum L.). The identification of HMW-GS is the prerequisite for pyramiding high-quality glutenin genes. The present review is designed to list all published HMW-GS alleles in Triticum species and triticale (A- and B genomes), focusing on methods for their identification. T. monococcum is characterized by 37 alleles at the Glu-1 locus versus fou [...]

by OBM Genetics Editorial Office

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

by Vasiliy A. Chokheli  , Semyon D. Bakulin  , Olga Yu. Ermolaeva  , Vishnu D. Rajput  , Anatoly S. Azarov  , Arpna Kumari  , Victoriya V. Stepanenko  , Anastasia A. Bushkova  , Pavel A. Dmitriev  , Marcos Edel Martinez-Montero  and Tatiana V. Varduni

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

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 [...]

by Joep Geraedts

Received: 16 January 2017;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701001

by Nani Maharani  , Agustini Utari  , Nydia Rena Benita Sihombing  and Tri Indah Winarni

Received: 01 June 2024;  Published: 20 August 2024;  doi: 10.21926/obm.genet.2403257

Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft lip, congenital exotropia, laryngomalacia, atrial septal defect, and sensorineural hearing loss. 46, XX, del (10p→ter) was observed on the G-banded analysis. A chro [...]

by Subhranshu Sekhar Kar  , Rajani Dube  , Biji Thomas George  and Malay Jhancy

Received: 07 April 2024;  Published: 20 December 2024;  doi: 10.21926/obm.genet.2404276

There is a high prevalence of genetic abnormalities that significantly contribute to overall morbidity and mortality in neonates. Since early diagnosis is crucial for the optimal administration of conventional and customized medications, neonatal acute care has the most significant potential to benefit from genomic medicine. Genome sequencing has been demonstrated to have diagnostic, therapeutic and informational value in many investigations. With underlying genetic disorders, genome sequencing has the power to cha [...]

by Havva Özgen Eyüpoğlu  , Erol Eyüpoğlu  and Nedime Serakinci

Received: 13 March 2024;  Published: 17 July 2024;  doi: 10.21926/obm.genet.2403252

Pancreatic damage and pancreatic cancer pose significant challenges due to their complex pathogenesis, limited treatment options, and poor prognosis. In recent years, the potential use of human Mesenchymal Stem Cells (hMSCs) has been explored to address these complex pancreatic conditions and develop novel therapeutics. hMSCs, known for their regenerative and immunomodulatory properties, offer a novel therapeutic avenue for repairing damaged tissues and possibly inhibiting cancer progression. This communication dis [...]

by Khaliunaa Bayanbold  , Noel N. Tolbanen  , John A. Bernat  and Jaime Nagy

Received: 30 December 2023;  Published: 05 March 2024;  doi: 10.21926/obm.genet.2401220

Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containing the RAI1 (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, and FISH analysis, identified a ring chromosome containing portions of chromosomes 14 and 17 in [...]

by Joep Geraedts

Received: 15 January 2019;  Published: 15 January 2019;  doi: 10.21926/obm.genet.1901059

A healthy and happy 2019