WebJun 20, 2024 · Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive involvement of the proximal and/or distal muscles of the limbs. Bohan and Peter criteria are the most … WebFeb 1, 2012 · DySF is a dynamic, quantitative, measure of daily glucose "volatility" that separates patients, within the same strata of HbA1c, into visually distinct patient profiles. DySF can be used as a preliminary predictor of clinically severe hypoglycemia in children and "well-controlled" patients with HbA1c ≤ 6.5%.
Dysferlin - Wikipedia
WebAttribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the ... DysF motif at the extreme C-terminus (Wu et al., 2024) … WebMay 13, 2024 · Purpose Endometriosis is a common chronic gynecological disease greatly affecting women health. Prior studies have implicated that dysferlin (DYSF) aberration might be involved in the pathogenesis of ovarian endometriosis. In the present study, we explore the potential presence of DYSF mutations in a total of 152 Han Chinese samples with … the queen\u0027s gambit konusu
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WebDysferlinopathy will only cause muscle weakness (phenotype) if a person has two mutated copies of the DYSF gene (genotype). The genotype of two defective DYSF genes is … WebBackground: The vesicle fusion protein Dysferlin (DYSF) is mainly known as a membrane repair protein in muscle cells. Mutations of DYSF lead to muscular dystrophies and cardiomyopathies. In contrast to other members of the Ferlin protein family, few is known about its role in cancer. Our study was designed to investigate the expression and ... WebDescription: Homo sapiens dysferlin (DYSF), transcript variant 8, mRNA. (from RefSeq NM_003494) RefSeq Summary (NM_003494): The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium … sign in suddenlink account