Results 31 to 40 of about 2,221 (162)

Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene

Child Neurology Open, 2022
Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia.
Grace Bryant, Steven A. Moore, James S. Nix, Grace Rice, Murat Gokden, Aravindhan Veerapandiyan   +5 more
openaire   +2 more sources

Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B

Journal of Lipid Research, 2018
Progressive limb and girdle muscle atrophy leading to loss of ambulation is a hallmark of dysferlinopathies, which include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy.
Stephanie L. Sellers, Nadia Milad, Zoe White, Chris Pascoe, Rayleigh Chan, Geoffrey W. Payne, Chun Seow, Fabio Rossi, Michael A. Seidman, Pascal Bernatchez   +9 more
doaj   +1 more source

Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice

Skeletal Muscle, 2022
Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently demonstrated in typically mild dysferlin- and dystrophin-deficient mouse models that ...
Zoe White, Zeren Sun, Elodie Sauge, Dan Cox, Graham Donen, Dmitri Pechkovsky, Volker Straub, Gordon A. Francis, Pascal Bernatchez   +8 more
doaj   +1 more source

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Acta Neuropathologica Communications, 2023
Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy.
Joe Yasa, Claudia E. Reed, Adam M. Bournazos, Frances J. Evesson, Ignatius Pang, Mark E. Graham, Jesse R. Wark, Brunda Nijagal, Kim H. Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T. Cooper, Frances A. Lemckert   +13 more
doaj   +1 more source

Genomics Insights Into High-Latitude Adaptation of Tibetan Macaques. [PDF]

Adv Sci (Weinh)
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Zhang R, Hu Y, Teng Y, Qi J, Ciren Y, Zhang L, Du Q, Xu W, Zhou L, Fan Z, Xing J, Li M, Li J.   +12 more
europepmc   +2 more sources

Genetic characterization of Limb Girdle Muscular Dystrophies and Pompe Disease in a large Argentine cohort

Neurology Perspectives, 2022
Introduction: The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles.
M. Schiava, C. Marchesoni, M.L. García de Rosa, N. Estrada, L.L. Cejas, A. Pardal, L. Pirra, L. Repetto, A. Torres, A. Dubrovsky, R. Reisin   +10 more
doaj   +1 more source

Ancestry dependent balancing selection of placental dysferlin at high-altitude

Frontiers in Cell and Developmental Biology, 2023
Introduction: The placenta mediates fetal growth by regulating gas and nutrient exchange between the mother and the fetus. The cell type in the placenta where this nutrient exchange occurs is called the syncytiotrophoblast, which is the barrier between ...
William E. Gundling, Sasha Post, Nicholas P. Illsley, Lourdes Echalar, Stacy Zamudio, Derek E. Wildman   +5 more
doaj   +1 more source

Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect

Molecular Genetics & Genomic Medicine, 2019
Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali   +5 more
doaj   +1 more source

Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report

Gene, Cell and Tissue, 2021
Introduction: Muscular dystrophy is a hereditary degenerative muscle disease which progressively reduces the strength of the muscles that control movement. In this study, we tried to investigate genetic variants in muscular dystrophy using sequencing of whole exons.
Hadis Malek, Khadijeh Shahrokhabadi, Saeid Ghavami, Mohsen Taheri, Ehsan Ghayoor Karimiani   +4 more
openaire   +2 more sources

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