Results 51 to 60 of about 2,976 (183)

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy

Saudi Medical Journal, 2017
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad ...
Ullah, Muhammad I., Ahmad, Arsalan, Žarković, Milena, Shah, Syed S., Nasir, Abdul, Mahmood, Saqib, Ahmad, Wasim, Hübner, Christian A., Hassan, Muhammad J.   +8 more
openaire   +2 more sources

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

BMC Neurology, 2022
Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.
Ning Wang, Xu Han, Shengpu Hao, Jingzhe Han, Xiaomeng Zhou, Shuyan Sun, Jin Tang, Yanpeng Lu, Hongran Wu, Shaojuan Ma, Xueqin Song, Guang Ji   +11 more
doaj   +1 more source

Association Between Genetic Ancestry and Multiple Sclerosis Severity

Annals of Neurology, EarlyView.
Objective The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS). Methods Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyped from saliva using a commercial array. Genetic ancestry was inferred using
Benjamin M. Jacobs, Emily Tregaskis‐Daniels, Luisa Schalk, Jakub Nagrodski, ADAMS investigators, Michelle Peter, Rashmi Kaimal, Roxanne Murray, Sadid Hoque, Terri‐Louise Brown, Ghaniah Hassan‐Smith, Helen L. Ford, Bruno Gran, Karim L. Kreft, Cord Spilker, Outi Quinn, David Rog, Miriam Mattoscio, Elisa Visentin, Ramya Shamji, Grace Fawehinmi, Katila George, Maria Papachatzaki, Katharine Harding, Rod Middleton, Tarunya Arun, Waqar Rashid, Adil Harroud, Huw R. Morris, Eli Silber, Gavin Giovannoni, Alastair J. Noyce, Ruth Dobson   +32 more
wiley   +1 more source

Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice

Lipids in Health and Disease
Background Dysferlin-deficient limb-girdle muscular dystrophy type 2B (Dysf) mice are notorious for their mild phenotype. Raising plasma total cholesterol (CHOL) via apolipoprotein E (ApoE) knockout (KO) drastically exacerbates muscle wasting in Dysf ...
Zeren Sun, Zoe White, Marine Theret, Pascal Bernatchez   +3 more
doaj   +1 more source

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

BMC Evolutionary Biology, 2010
Background The ferlin gene family possesses a rare and identifying feature consisting of multiple tandem C2 domains and a C-terminal transmembrane domain.
Lek Monkol, Lek Angela, North Kathryn N, Cooper Sandra T   +3 more
doaj   +1 more source

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2143-2147, October 2026.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source

Genetic Association Studies in Hepatocellular Carcinoma: Systematic Meta‐Analyses, a Comprehensive Field Synopsis, and Epidemiological Evidence

MedComm, Volume 7, Issue 9, September 2026.
Based on meta‐analyses and cumulative epidemiological evidence, the present study identifies 11 genetic variants in 11 genes that are truly associated with the risk of hepatocellular carcinoma. Our work presents a systematic synopsis, which helps elucidate the mechanisms of carcinogenesis and provides insights into the early diagnosis and novel ...
Yujin Shi, Bin Huang, Xiaohong Liu, Yalan Liu, Qinyong Hu, Tianyu Lei, Luqi Tang, Guanglin Xiao, Tingting Ning, Shengqin Yue, Jiahui He, Qilian Du, Xuanmei Li, Yixuan Zhou, Qiongfang Zhang, Chunyan Qi, Hong Ren, Hong‐Gang Ren   +17 more
wiley   +1 more source

Targeting progressive multiple sclerosis: Toward mechanism‐informed precision medicine

Journal of Internal Medicine, Volume 300, Issue 3, Page 238-257, September 2026.
Abstract Multiple sclerosis has undergone a therapeutic revolution over the past three decades. Randomized clinical trials and real‐world data demonstrate that modern disease‐modifying therapies substantially reduce relapse rates and acute inflammatory activity detected by magnetic resonance imaging (MRI).
Fredrik Piehl, Gonçalo Castelo‐Branco, Maja Jagodic, Tomas Olsson   +3 more
wiley   +1 more source

Exploring Genetic Contributions to Prostate Cancer Risk in an Asian Population‐Based Study

Cancer Medicine, Volume 15, Issue 7, July 2026.
ABSTRACT Background Genetic susceptibility to prostate cancer (PCa) varies across populations, yet East Asian men remain underrepresented in genome‐wide association studies (GWAS). This study aimed to identify genetic variants associated with PCa in a Taiwanese cohort and to explore their potential biological relevance using integrative annotation ...
Jiun‐Hung Geng, Chia‐Cheng Yu, Chao‐Yuan Huang, Victor C. Lin, Chia‐Yang Li, Ming‐Tsang Wu, Szu‐Chia Chen, Bo‐Ying Bao, Shu‐Pin Huang   +8 more
wiley   +1 more source

A novel variant in DYSF gene: A case report

, 2020
The DYSF gene is located on chromosome 2p13, which spans a genomic region of more than 230 kbp and comprises 55 exons.It encodes a transmembrane protein DYSF which has been linked to membrane repair, Ca2+ signaling, cell adhesion, andangiogenesis ...
Ayhan, Raşit, Kardaş, Fatih, Baysal, Kübra, Dündar, Munis, Aktaş Paskal, Şeyma   +4 more
core   +1 more source