by Corrado Angelini

Received: 08 February 2024;  Published: 18 April 2024;  doi: 10.21926/obm.genet.2402228

Newborn screening for neuromuscular disorders and glycogen or fatty acid oxidation disorders aims to identify infants at risk for these conditions, allowing for early intervention and management. While not all neuromuscular disorders currently have established newborn screening programs, there are various disorders for which screening is available or under investigation. Neuromuscular disorders encompass a wide range of conditions that affect the nerve, muscle, or the connection between them. Examples include spina [...]

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 Walter Calderón Gerstein  , Gabriela Torres Samaniego  and Kevin Pazos Sovero

Received: 30 November 2022;  Published: 12 April 2024;  doi: 10.21926/obm.genet.2402226

There is a lack of knowledge regarding the type of lung compromise in high-altitude residents with COVID-19. This study aims to evaluate the lung compromise in chest CT scans of high-altitude dwellers hospitalized with COVID-19. Retrospective study that took place in "Daniel Alcides Carrión" Regional Hospital, located 3,250 meters above sea level in the city of Huancayo, Perú. 464 medical charts and chest CT images of hospitalized patients with confirmed COVID-19 from January to March 2021 were reviewed. The mean a [...]

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 Vladimir A. Trifonov

Received: 21 February 2024;  Published: 09 April 2024;  doi: 10.21926/obm.genet.2402224

This review provides a critical assessment of the content and structure of the recently published book by Dr. Thomas Liehr, 'Small Supernumerary Marker Chromosomes: Basics.'

by Takayoshi Kiba

Received: 05 January 2024;  Published: 19 March 2024;  doi: 10.21926/obm.genet.2401223

A popular toxicological and pharmacological research cell line is the insulin-secreting pancreatic cell line Rin-5F. The cell line originates from insulinomas induced by X-ray exposure. The author of this report looked at the mutation status of the DAXX gene in the Rin-5F cell line clone. The complete DNA and RNA were extracted from the cultivated cells as well. Double-stranded cDNA was then synthesized using the RNA template. Sequencing was done using a 3730xl DNA Analyzer. In the present study, c.A1459G (p.T487A) [...]

by Firas AL-Rshoud  , Lina Almahmoud  , Nagham Younis  , Rnad AL. Ajarmeh  and Ahmad M. Fares

Received: 02 January 2024;  Published: 07 March 2024;  doi: 10.21926/obm.genet.2401222

This study aims to assess the Trophectoderm (TE) biopsy practice in Jordan in terms of the following effectiveness parameters: timing of zona breaching, risk of inner cell mass herniation if zona breaching was done on day 3, timing of TE sampling, method of biopsy (pulling or flicking), number of laser pulses, assessment of embryo survival after biopsy, and degeneration rate. An online cross-sectional survey was conducted in November 2022. The collected data presented the perception of embryologists (>10 years e [...]

by Mohsen Akbaribazm  , Elnaz Khordad  and Mohsen Rahimi

Received: 27 September 2023;  Published: 06 March 2024;  doi: 10.21926/obm.genet.2401221

Various factors contributing to male infertility include genetic determinants, hormonal/neurological imbalance, erectile/libido disorders, genital tract injuries, and toxic/ischemic testicular injuries. Herbs increase sperm count and quality parameters, as well as sexual performance in infertile men, through various mechanisms. For this purpose, efforts were made to investigate effective plants in treating infertility, focusing on those studied in animal research. In this review, we explored the latest findings fro [...]

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 Milky Mittal  , Annu Kumari  , Bhashkar Paul  , Adya Varshney  , Bhavya  , Ashok Saini  , Chaitenya Verma  and Indra Mani

Received: 07 October 2023;  Published: 04 March 2024;  doi: 10.21926/obm.genet.2401219

Gene therapy involves either the direct introduction of genetic material (DNA or RNA) into the host cell (or organ), known as in vivo gene therapy, the re-introduction of the modified target cells taken out of the host, or ex vivo gene therapy. Cancer is mainly caused by the non-functioning of genes required for normal cell proliferation, and it has emerged as the leading cause of death globally due to the absence of efficient and safe therapies as well as early diagnostic modalities. Therapeutic trials using gene [...]