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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.
TopoQual polishes circular consensus sequencing data and accurately predicts quality scores.
BMC Bioinformatics
January 2025
Auburn University, Auburn, AL, 36849, USA.
Background: Pacific Biosciences (PacBio) circular consensus sequencing (CCS), also known as high fidelity (HiFi) technology, has revolutionized modern genomics by producing long (10 + kb) and highly accurate reads. This is achieved by sequencing circularized DNA molecules multiple times and combining them into a consensus sequence. Currently, the accuracy and quality value estimation provided by HiFi technology are more than sufficient for applications such as genome assembly and germline variant calling.
View Article and Find Full Text PDFIdentification of EXPA4 as a key gene in cotton salt stress adaptation through transcriptomic and coexpression network analysis of root tip protoplasts.
BMC Plant Biol
January 2025
National Key Laboratory of Cotton Bio-breeding and Integrated Utilization, Institute of Cotton Research, Chinese Academy of Agricultural Sciences, Anyang, Henan, 455000, China.
Background: Salinity stress impairs cotton growth and fiber quality. Protoplasts enable elucidation of early salt-responsive signaling. Elucidating crop tolerance mechanisms that ameliorate these diverse salinity-induced stresses is key for improving agricultural productivity under saline conditions.
View Article and Find Full Text PDFGenome-Guided Identification and Characterisation of Broad-Spectrum Antimicrobial Compounds of Bacillus velezensis Strain PD9 Isolated from Stingless Bee Propolis.
Probiotics Antimicrob Proteins
January 2025
Enzyme and Microbial Technology Research Center, Faculty of Biotechnology and Biomolecular Sciences, Universiti Putra Malaysia, 43400 UPM, Serdang, Selangor, Malaysia.
The emergence of multidrug-resistant pathogens presents a significant global health challenge, which is primarily fuelled by overuse and misuse of antibiotics. Bacteria-derived antimicrobial metabolites offer a promising alternative strategy for combating antimicrobial resistance issues. Bacillus velezensis PD9 (BvPD9), isolated from stingless bee propolis, has been reported to have antibacterial activities against methicillin-resistant Staphylococcus aureus (MRSA).
View Article and Find Full Text PDFAnalysis of DNA cox1 barcoding revealed novel haplotype in Schistosoma haematobium isolated from Western Sudan.
Sci Rep
January 2025
Faculty of Veterinary Medicine, University of Khartoum, Khartoum, Sudan.
Schistosomiasis poses a significant global health threat, particularly in tropical and subtropical regions like Sudan. Although numerous epidemiological studies have examined schistosomiasis in Sudan, the genetic diversity of Schistosoma haematobium populations, specifically through analysis of the mtcox1 gene, remains unexplored. This study aimed to investigate the risk factors associated with urogenital schistosomiasis among school pupils in El-Fasher, Western Sudan, as well as the mtcox1 genetic diversity of human S.
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