Prevalence and spectrum of haemoglobinopathies in females of reproductive age group- A first tertiary care center experience in Punjab, North India by Vikram Narang, Anshul Jain, Sumit Grover, Ankita Soni, Monika Narang, Ashima Taneja

“…According to estimates, approximately 7% of the world population is a carrier of Hb disorders, leading to high morbidity and mortality. …”
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Effects of entinostat, quisinostat, and tubastatin-A on alcohol consumption in male high ethanol consuming rats by Sheketha R. Hauser, Sheketha R. Hauser, Laura B. Ferguson, Laura B. Ferguson, Tiebing Liang, Erin E. Jarvis, R. Dayne Mayfield, Richard L. Bell, Richard L. Bell

“…BackgroundThe interaction between genetics, epigenetics, and the environment plays a key role in the development of alcohol use disorder (AUD). …”
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, Francois Gros-Louis, Michael S. Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar S. Padiath

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The effects of SN Ps in the regions of positioning RNA polymerase II on the TBP/promoter affinity in the genes of human circadian clock by O. A. Podkolodnaya, D. A. Rasskazov, N. L. Podkolodnyy, N. N. Podkolodnaya, V. V. Suslov, L. K. Savinkova, P. M. Ponomarenko, M. P. Ponomarenko

“…Genetic variability in the genes of circadian clock is manifested as the phenotypic variability of physiological functions and behavior as well as disorders of the function of not only the clock but also other systems, leading to the development of a pathologies. …”
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Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study by Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare

“…X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors. …”
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Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States by Tahuanty A. Pena, MD, MS, Brittany Wright, PharmD, Kalpaj R. Parekh, MBBS, Julia Kleney-Tait, MD, PhD

“…These findings underscore the transformative impact of CFTR modulators like ETI on the natural history of CF, highlighting the importance of continued advancements in precision medicine for genetic disorders. Future studies should investigate long-term outcomes and sustained trends in lung transplantation needs among pwCF.…”
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Direct and Indirect Methods for Studying Human Gut Microbiota by V. T. Ivashkin, O. S. Medvedev, E. A. Poluektova, A. V. Kudryavtseva, I. R. Bakhtogarimov, A. E. Karchevskaya

“…Currently, molecular genetic methods are used mainly for basic research and do not have a unified protocol for data analysis, which makes it difficult to implement them in clinical practice. …”
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Genomic analysis and replication kinetics of the closely related EHV-1 neuropathogenic 21P40 and abortigenic 97P70 strains by Eslam Mohamed, Ines Zarak, Nick Vereecke, Sebastiaan Theuns, Kathlyn Laval, Hans Nauwynck

“…Both strains exhibited a nucleotide identity of 99.96%, with only seven genetic mutations in ORFs 13, 24, 30, 32, 40, 65, and 71. …”
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Human Brain Organoid: A Versatile Tool for Modeling Neurodegeneration Diseases and for Drug Screening by Cuili Ma, Hwanwook Seong, Xiaowei Li, Xiao Yu, Shunliang Xu, Yujing Li

“…However, none of the existing animal models could efficiently simulate the development of human organs and systems due to a lack of spatial information; the discrepancy in genetic, anatomic, and physiological basis between animals and humans limits detailed investigation. …”
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Antibiotics Resistance Pattern of Food-Borne Bacteria Isolated from Ice Cream in Bangladesh: A Multidisciplinary Study by Md Sohel, Moushumi Akter, Md. Fahmid Hasan, Shahin Mahmud, Mohammod Johirul Islam, Ashekul Islam, Khairul Islam, Abdullah Al Mamun

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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…Willem MA Verhoeven,1– 3 Rolph Pfundt,4,5 Udo FH Engelke,6 Leo AJ Kluijtmans,6 Jos IM Egger3– 5 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands; 2Centre for Consultation and Expertise, Utrecht, The Netherlands; 3Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 4Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; 6Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The NetherlandsCorrespondence: Willem MA Verhoeven, Email wmaverhoeven@planet.nlIntroduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. …”
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Transitioning from wet lab to artificial intelligence: a systematic review of AI predictors in CRISPR by Ahtisham Fazeel Abbasi, Muhammad Nabeel Asim, Andreas Dengel

“…This groundbreaking technology holds immense potential for the development of targeted therapies for a wide range of diseases, including cancers, genetic disorders, and hereditary diseases. CRISPR-Cas9 based genome editing is a multi-step process such as designing a precise gRNA, selecting the appropriate Cas protein, and thoroughly evaluating both on-target and off-target activity of the Cas9-gRNA complex. …”
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Family Self-Support in Managing Down Syndrome Children: A Qualitative Study by Farzaneh Noroozi, Zohreh Farrar, Tayebeh Gharibi, Roqayeh Gashmard

“…Down syndrome (DS) is the most common reason for disabilities caused by genetic disorders. Due to the special nature of this disease and the special needs of children with Down syndrome, they are required to receive their families’ support. …”
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Identification of a binding site for small molecule inhibitors targeting human TRPM4 by Babatunde Ekundayo, Prakash Arullampalam, Christian E. Gerber, Anne-Flore Hämmerli, Sabrina Guichard, Mey Boukenna, Daniela Ross-Kaschitza, Martin Lochner, Jean-Sebastien Rougier, Henning Stahlberg, Hugues Abriel, Dongchun Ni

“…Abstract Transient receptor potential (TRP) melastatin 4 (TRPM4) protein is a calcium-activated monovalent cation channel associated with various genetic and cardiovascular disorders. The anthranilic acid derivative NBA is a potent and specific TRPM4 inhibitor, but its binding site in TRPM4 has been unknown, although this information is crucial for drug development targeting TRPM4. …”
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Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy by Joanna Wanat, Wojciech Homa, Aleksandra Warunek, Gabriela Gronowicz, Izabela Dzikowska, Agata Siejka, Daria Stefaniak, Weronika Zielińska, Michał Chról

“… Introduction and purpose Mucopolysaccharidoses (MPS), a subset of inborn errors of metabolism (IEM), are genetic disorders requiring pediatricians to recognize non-specific symptoms and carefully monitor newborns. …”
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Proinflammatory Effects of Diesel Exhaust Nanoparticles on Scleroderma Skin Cells by A. Mastrofrancesco, M. Alfè, E. Rosato, V. Gargiulo, C. Beatrice, G. Di Blasio, B. Zhang, D. S. Su, M. Picardo, S. Fiorito

“…Autoimmune diseases are complex disorders of unknown etiology thought to result from interactions between genetic and environmental factors. …”
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Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia by Tao Liu, Yang Wang, Xi-Zhou An, Jiaqi Liu, Yuqin Wu, Yan Xiang, Yong-Jie Zhang, Lan Huang, Jia-Cheng Li, Yu-Zhuo-Pu Li, Jie Yu

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A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

“…Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. The etiology of these genetic disorders remains unknown, which can partly be due to the lack of independently characterized antibodies. …”
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Stem Cell Therapy for Diseases of Livestock Animals: An In-Depth Review by Raghavendra B. Narasimha, Singireddy Shreya, Vijay Anand Jayabal, Vikas Yadav, Prasana Kumar Rath, Bidyut Prava Mishra, Sudhakar Kancharla, Prachetha Kolli, Gowtham Mandadapu, Sudarshan Kumar, Ashok Kumar Mohanty, Manoj Kumar Jena

“…In addition to the diseases mentioned, the potential of stem cells can be helpful in wound healing, skin disease therapy, and treatment of some genetic disorders. This article explores the potential of stem cells from various sources in the therapy of livestock diseases and also their role in the conservation of endangered species as well as disease model preparation. …”
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Direct and Indirect Protein Interactions Link FUS Aggregation to Histone Post-Translational Modification Dysregulation and Growth Suppression in an ALS/FTD Yeast Model by Seth A. Bennett, Samantha N. Cobos, Raven M. A. Fisher, Elizaveta Son, Rania Frederic, Rianna Segal, Huda Yousuf, Kaitlyn Chan, David K. Dansu, Mariana P. Torrente

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are incurable neurodegenerative disorders sharing pathological and genetic features, including mutations in the <i>FUS</i> gene. …”
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