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A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
The rectification of heterotypic Cx46/Cx50 gap junction channels depends on intracellular magnesium.
Biophys Rep
October 2024
Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario, Canada.
Article Synopsis
- - Gap junction intercellular communication is vital for various bodily functions, and is created when two hemichannels from adjacent cells dock together.
- - This study focused on the properties of heterotypic gap junctions made from Cx46 and Cx50, revealing that magnesium (Mg) influences their conductance, showing changes depending on Mg presence.
- - A specific genetic variant in Cx46 (E43F) altered the conductance response to Mg, suggesting that understanding magnesium's effects could lead to insights into gap junction communication in health and disease.
A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in .
Arch Iran Med
September 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
After is the second most common contributor to autosomal recessive nonsyndromic hearing loss (ARNSHL) worldwide. In this study, we used Exome Sequencing (ES) to present a village with 31 individuals affected by hereditary hearing loss (HHL) in southeastern Iran near the border of Pakistan. The village harbored the known pathogenic missense (NM_000441.
View Article and Find Full Text PDFNovel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report.
Neurol India
September 2024
Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Disease, Osmania University, Hyderabad, Telangana, India.
Article Synopsis
- - Charcot-Marie-Tooth disease (CMT) is a complex genetic disorder, and identifying its various subtypes can be challenging due to overlapping symptoms and insufficient family history.
- - A young male suspected of having CMT underwent whole exome sequencing (WES), which identified a specific genetic mutation in the GJB1 gene associated with X-linked CMT (CMTX).
- - The WES revealed a novel hemizygous missense variation that changes cysteine to arginine at a specific position in the GJB1 gene, enhancing the understanding of genetic causes of CMT.
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Sci Rep
September 2024
School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
Article Synopsis
- - Hearing loss impacts about 5% of people worldwide, with recent studies in Pakistan identifying genetic variants in individuals with no prior hearing issues, focusing on those from consanguineous marriages.
- - A cohort of 44 individuals was examined, revealing varying degrees of hearing loss, with some experiencing progressive symptoms, and genetic analysis identified variants in 17 different genes, particularly SLC26A4.
- - The study achieved a 75% diagnostic rate, highlighting the genetic diversity associated with hearing loss and suggesting potential new genetic links through deleterious variants found in two specific genes.
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