by Lunawati Lo Bennett

Received: 11 June 2024;  Published: 18 October 2024;  doi: 10.21926/obm.genet.2404268

Malignant pleural mesothelioma (MPM) is a lethal and aggressive cancer due to exposure to asbestos since this carcinogen is still being used in industrial buildings and housing in several countries. Untreated MPM has a median survival time of 12 months, and most people die within 24 months after diagnosis. If caught early, surgery may be performed. Treatment option for palliative care is limited using platinum with pemetrexed. Malignant transformation of a cell is attributed to a series of genetic and epigenetic ev [...]

by Phumzile Mkhize  and Phetole Mangena

Received: 16 July 2024;  Published: 16 October 2024;  doi: 10.21926/obm.genet.2404267

Breeding drought-tolerant genotypes using genetic and biochemical tools is an important mitigation strategy to improve stress response and yields in bottle gourd [Lagenaria siceraria (Molina) Standl.]. This current study evaluated the variations among bottle gourd genotypes for potential breeding purposes by establishing the relationship between agronomic traits and the protein profile required for the plants’ resilience against drought stress. The study assessed 12 bottle gourd accessions grown under non-str [...]

by José A. Cedeño-Escudero  , Luis A. Sotillo-Bent  , Carolina Vega- Cuellar  , Rolando González-Angulo  , Evelyn Medina-Batista  , José Sotillo-Lindo  and Luis A. Méndez-Rosado

Received: 13 August 2024;  Published: 12 October 2024;  doi: 10.21926/obm.genet.2404266

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting approximately 1 in 500 people. It is the most common genetic cardiomyopathy inherited as a Mendelian trait in approximately 50% of patients, mainly due to pathogenic variants in genes encoding sarcomeric proteins. Mutations in the sarcomeric protein filamin C (FLNC) gene, with a cytogenetic localization on 7q32.1, have been linked to hypertrophic cardiomyopathy, as they have been determined to increase the risk of ventricular a [...]

by Meshari A. Alzahrani  , Mohammad A. Alghafees  , Lama H. Aldosari  , Abdulaziz K. Almaymuni  , Abdulltaif M. Altalhah  , Mohammed M. Abualgasem  and Basel O. Hakami

Received: 19 April 2024;  Published: 30 September 2024;  doi: 10.21926/obm.genet.2403265

The total lack of spermatozoa in the ejaculate is known as Azoospermia. It is the most severe and significant contributor to male infertility. Therefore, the purpose of this study is to assess the status of Azoospermia and its etiologic factors that contribute to male infertility in Saudi Arabia. This study included all published studies written in English that were published in Saudi Arabia. Online searches via PubMed and Google Scholar were conducted from their inception to 15 January 2023. A total of 624 studies [...]

by Zeki Kara  and Ahmet Beyatlı

Received: 03 June 2024;  Published: 27 September 2024;  doi: 10.21926/obm.genet.2403264

Continuous improvement of vine rootstocks and grape varieties is necessary for the sustainability of viticulture. In this context, grapevine breeding and especially the development of polyploid grapevine genotypes offer opportunities. This study investigated the effectiveness of sodium azide (SA, five dozes and two treatment duration) and ethyl methane sulfonate (EMS, four dozes and two treatment duration) in inducing polyploidy. In Ekşi Kara and Gök Üzüm grape cultivars and 41B and Fercal grapevine rootstocks, dif [...]

by Lucia Urbanová  , Silvia Farkasova  , Ivana Speváková  , Matúš Kyseľ  , Veronika Šimora  , Miroslava Kacaniova  and Jana Žiarovská

Received: 21 May 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403263

Medicinal plants have been a part of human life from a very early age. In the field of plant genetics, they are still widely investigated for their genomic variability. This study used two DNA marker techniques to obtain polymorphic profiles in selected species from Lamiaceae. Both are based on the variability of plant genes that code for allergens - BBAP (Bet v 1-Based Amplicon Polymorphism) and PBAP (Profilin-Based Amplicon Polymorphism). Variability of Bet v 1 homologues within individual genomes showed similari [...]

by Arianne Llamos-Paneque  , Isabel Echevarria-Frutos  , Amaury León-Siosa  , Tanja Herrmann  and Thomas Liehr

Received: 08 July 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403262

To present a rare clinical case of a man affected simultaneously by Becker phenotype Muscular Dystrophy (MD) and Klinefelter syndrome and the way how he was diagnosed. A 35-year-old man was evaluated in the context of hospitalization for respiratory failure. Since childhood, he had a clinical and muscle biopsy diagnosis of muscular dystrophy, possibly type Becker. His physical examination showed severe weakness of the pelvic and shoulder girdle, with a waddling gait, grade II scoliosis associated with tall height, [...]

by Edoardo Masiello  , Sebastiano Caruso  , Salvatore Lavalle  , Roberta Foti  , Caterina Gagliano  , Ignazio La Mantia  , Salvatore Giuseppe Cocuzza  , Luigi La Via  , Federica Maria Parisi  , Christian Calvo-Henriquez  , Miguel Mayo-Yanez  , Jerome R. Lechien  , Claudia Di Napoli  and Antonino Maniaci

Received: 25 June 2024;  Published: 19 September 2024;  doi: 10.21926/obm.genet.2403261

Behçet's syndrome is a systemic inflammatory disorder of unknown origin, presenting with diverse symptoms such as recurrent oral and genital ulcers, skin lesions, and uveitis, and can impact multiple organ systems. Diagnosis relies primarily on clinical evaluation due to the lack of specific diagnostic tests. Management requires a multidisciplinary approach to control inflammation and alleviate symptoms, utilizing treatments like corticosteroids, immunosuppressive agents, and biological therapies. The higher preval [...]

by Ezgi Cabuk Sahin  , Yildiz Aydin  and Ahu Altinkut Uncuoglu

Received: 17 May 2024;  Published: 02 September 2024;  doi: 10.21926/obm.genet.2403260

Molecular markers play a crucial role in accelerating crop production for sustainable agriculture by identifying resistant traits and enhancing genetic diversity. In this review, we examine the impact of the molecular markers on advancing our understanding of stress tolerance mechanisms in plants, addressing the pressing imperative to bolster global food production to meet the escalating demands of the growing population. Additionally, the application of molecular markers to evaluate the genetic accuracy of plants [...]

by Lamiae Afif  , Zhour El Amrani  , Aziza Sbiti  , Ilham Ratbi  , Imane Cherkaoui Jaouad  , Youssef El Kadiri  , Thomas Liehr  , Abdelaziz Sefiani  and Abdelhafid Natiq

Received: 02 April 2024;  Published: 30 August 2024;  doi: 10.21926/obm.genet.2403259

6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and secondary amenorrhea. To our knowledge, neither abnormality in one patient has yet been reported. A 10-year-old girl with de novo 6q22.31q27 duplication and Xq28 deletion was diagnosed by chromosomal microarray and confirmed by fluor [...]