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 [...]

by Tkachuk Elena Anatolyevna  and Kurenkova Galina Vladimirovna

Received: 15 October 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401218

This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that the challenge in diagnosing disorders of sex development is associated with the polymorphic clinical manifestations of this syndrome. It is noted that the presence of Y-chromosome dysomy is [...]

by Laura Roche  , Traci Flynn  and Linda Campbell

Received: 26 September 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401217

22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within early and primary educational contexts. We conducted 3 online focus groups and 1 online semi-structured interview with a total of 9 mothers of children diagnosed with 22q11.2DS. Mot [...]

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 Morkoss M. Fakhry  , Asmaa R. Abdel-Hamed  , Noha M. Mesbah  , Dina M. Abo-Elmatty  , Mohamed M. Sayed-Ahmed  , Abdel-Moneim M. Osman  and Ola S. Ahmed

Received: 27 November 2023;  Published: 26 February 2024;  doi: 10.21926/obm.genet.2401215

Breast cancer (BC) is the most common cause of cancer-related death and is the malignancy most frequently diagnosed in females worldwide. BC incidence is predicted to continue increasing worldwide. Without interventions, annual new cases will reach over 3 million by 2030. Genetic abnormalities account for almost 70% of all BC cases worldwide. Biological pathways implicated include non-coding RNAs (ncRNAs). MiRNAs are small non-coding RNA molecules that play a role in post-transcriptional regulation of gene expressi [...]

by Fatemeh Mollaamin  and Majid Monajjemi

Received: 27 November 2023;  Published: 21 February 2024;  doi: 10.21926/obm.genet.2401214

As proof has recommended a close connection between COVID-19 and neurodegenerative disorders, this article aims to investigate the chloroquine (CLQ) drug as the SARS-CoV-2’s primary protease, which can prevent in vitro viral duplication of all diverse experiments to present. CLQ is an anti-viral drug enlarged by Pfizer, which can operate as an orally effective 3C-like protease inhibitor. In this study, CLQ has been assessed for its effectiveness against coronavirus by trapping it within a boron nitride nanoca [...]