by Giuseppe Merra

Received: 03 July 2024;  Published: 10 July 2024;  doi: 10.21926/obm.genet.2403251

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 Oyovwi Mega Obukohwo  , Peggy Ejiro Ohwin  , Rotu Arientare Rume  , Olowe Gideon Temitope  , Oyelere Abosede Oreoluwa  and Adelowo Joy Motunrayo

Received: 19 February 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403249

Chromosome abnormalities are a leading cause of pregnancy loss, developmental delays, and birth defects. These abnormalities arise from errors in chromosome structure (breakage) or number (missegregation) during cell division. Understanding the causes of these errors is crucial for developing effective preventive strategies to improve reproductive health. This paper aims to review the known causes of chromosome breakage and mis-segregation, emphasizing their impact on pregnancy and newborn health. It further explor [...]

by Leila Naseri  , Mohsen Akbaribazm  and Mozafar Khazaei

Received: 06 February 2024;  Published: 04 July 2024;  doi: 10.21926/obm.genet.2403248

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy causing non-ovulation infertility in women. Women with PCOS have higher levels of luteinizing hormone (LH), testosterone, cholesterol and triglycerides but, in contrast, lower levels of follicular stimulating hormone (FSH) and sex hormone-binding globulin (SHBG) compared with healthy counterparts. Because of the limitations of human studies, animal models of PCOS have been developed to identify appropriate therapeutics and to explore their mechanism [...]

by Luis A. Méndez-Rosado  , Alicia Vaglio  , Roberto Lardoeyt- Ferrer  , Albertino Candimba-Sebastiao  , Judith Pupo-Balboa  , Ivan Y. Iourov  and Alejandro Esperon

Received: 19 March 2024;  Published: 24 June 2024;  doi: 10.21926/obm.genet.2402247

Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, and small insertions and deletions. The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding difficul [...]

by Oyovwi Mega Obukohwo  , Oyelere Abosede Oreoluwa  , Odewale O. Comfort  and Afolabi Opeyemi Olanike

Received: 24 March 2024;  Published: 20 June 2024;  doi: 10.21926/obm.genet.2402246

Infertility affects millions globally, with 10-15% of couples experiencing unexplained cases. Despite advancements in medicine, the cause remains unknown, causing emotional distress. Recent research suggests a genetic basis for this issue. This review aims to provide a better understanding of the underlying genetic factors contributing to unexplained infertility and potentially identify genetic markers that could aid in the diagnosis and treatment of this condition. A literature review was conducted to understand t [...]

by Fatemeh Mollaamin  , Majid Monajjemi  and Ahmad R. Alsayed

Received: 22 February 2024;  Published: 19 June 2024;  doi: 10.21926/obm.genet.2402245

The potential and selective inhibitors of protein tyrosine phosphatase 1B (PTP1B) are therapeutically useful in treating type 2 diabetes. N-Benzoyl-L-glutamyl-[4-phosphono(difluoromethyl)]-L-phenylalanine-[4-phosphono(difluoro-methyl)]-L-phenylalanineamide (BzN-EJJ-amide) (BGD) which is the ligand of 1LQF protein code extracted from protein data bank (PDB) is an inhibitor of PTP-1B that indicates selectivity over several protein tyrosine phosphatases. In this research, the interaction between the anti-diabetic drug [...]

by Galal Khamis  , Jun Chi  and Qingshun Zhao

Received: 12 January 2024;  Published: 18 June 2024;  doi: 10.21926/obm.genet.2402244

Tomato (Solanum lycopersicum), a family of Solanaceae, is an annual crop grown in fields and greenhouses. Tomato is the fourth-largest agricultural crop in the world, with a market value of more than $50 billion. Numerous attempts were conducted on the tomato for further improvement via in vitro regeneration and transformation. This study aims to establish in vitro multiplication, transformation, and gene editing systems in tomatoes by using cotyledon explants. Cotyledon explants were placed on the MS medium suppor [...]

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 Buti Obaid Saeed Alfalahi  , Imane Lamdjad  , Noaman Atallah Alheety  , Mustafa Alnujaifi  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 [...]