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A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.
Biochem Genet
January 2025
Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.
Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder accounting for almost 70% of the total congenital hearing loss. The implementation of rapid advanced sequencing methods has significantly contributed to the correct molecular diagnosis for several rare genetic disorders, including NHSL. Features of two probands with NHSL were clinically and genetically evaluated.
View Article and Find Full Text PDFA Similar Mutation in the AAUU-Rich Elements of the Mouse TNF Gene Results in a Distinct Ileocolitic Phenotype: A New Strain of TNF-Overexpressing Mice.
Inflamm Bowel Dis
January 2025
Division of Gastroenterology, University of California San Diego, La Jolla, CA, USA.
Background: Tumor necrosis factor (TNF) is a pleiotropic cytokine that plays a critical role in the pathogenesis of immune-mediated diseases including inflammatory bowel disease (IBD). The stability of its mRNA transcript, determined in part by destabilizing sequences in its AAUU repeats (ARE) gene region, is an important regulator of its tissue and systemic levels. A deletion in the ARE region of the gene resulted in IBD and arthritis in mice and pigs, supporting a critical role for the cytokine in human IBD and several human arthritides.
View Article and Find Full Text PDFCorrection of aberrant splicing of ELP1 pre-mRNA by kinetin derivatives - A structure activity relationship study.
Eur J Med Chem
December 2024
Laboratory of Experimental Biology, Faculty of Science, Palacký University, Šlechtitelů 27, CZ-78371 Olomouc, Czech Republic; Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University, Hněvotínská 3, 775 15 Olomouc, Czech Republic. Electronic address:
Familial dysautonomia is a debilitating congenital neurodegenerative disorder with no causative therapy. It is caused by a homozygous mutation in ELP1 gene, resulting in the production of the transcript lacking exon 20. The compounds studied as potential treatments include the clinical candidate kinetin, a plant hormone from the cytokinin family.
View Article and Find Full Text PDFGain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment.
Acta Neuropathol Commun
January 2025
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College (PUMC) and Chinese Academy of Medical Science (CAMS), Beijing, China.
Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. This study examines the clinical features of ALS patients harboring the ANXA11 hotspot mutation p.P36R, characterized by late-onset motor neuron disease and occasional multi-system involvement.
View Article and Find Full Text PDFRh blood group caused by novel base deletion and comprehensive pedigree analysis.
Int Immunopharmacol
January 2025
Department of Transfusion Medicine, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou 225300, Jiangsu, China. Electronic address:
Objective: The objective of this study was to rigorously investigate and elucidate the genetic mechanisms underlying the formation of the RH blood group in a specific case and to systematically analyse the RH blood group genes among the family members of the proband.
Methods: Serological methods were used to determine the RH blood group phenotype of the proband. To elucidate the underlying genetic mechanism responsible for the RH phenotype, a comprehensive approach was undertaken, including RHCE genotyping, sequencing of RHD and RHCE genes, and exon sequencing of RHAG.
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