نتایج جستجو برای: ژن fhl1
تعداد نتایج: 15963 فیلتر نتایج به سال:
Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. HCM is caused by mutations in sarcomeric genes, but in >40% of patients, the mutation is not yet identified. We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopath...
HMG proteins are architectural proteins that bind to DNA with low sequence specificity, but little is known about their genomic location and biological functions. Saccharomyces cerevisiae encodes 10 HMG proteins, including Hmo1, which is important for maximal transcription of rRNA. Here we use chromatin immunoprecipitation coupled with microarray analysis to determine the genome-wide associatio...
Understanding mechanisms underlying titin regulation in cardiac muscle function is of critical importance given recent compelling evidence that highlight titin mutations as major determinants of human cardiomyopathy. We previously identified a cardiac biomechanical stress-regulated complex at the cardiac-specific N2B region of titin that includes four-and-a-half LIM domain protein-1 (Fhl1) and ...
can bind to either ankyrin in vitro, what makes the channels preferentially bind to ankyrin G in vivo? To answer this question, Bréchet et al. homed in on the precise residues in sodium channels that are required for the interaction with ankyrin G. They pinpointed a sequence of residues that looked like a target for phosphorylation by CK2, and sure enough, it was. CK2 phosphorylated the sodium ...
The four-and-half LIM domain protein 1 (FHL1) is highly expressed in skeletal and cardiac muscle. Mutations of the FHL1 gene have been associated with diverse chronic myopathies including reducing body myopathy, rigid spine syndrome (RSS), and Emery-Dreifuss muscular dystrophy. We investigated a family with a mutation (p.C150R) in the second LIM domain of FHL1. In this family, a brother and a s...
PKD (protein kinase D) is a serine/threonine kinase implicated in multiple cardiac roles, including the phosphorylation of the class II HDAC5 (histone deacetylase isoform 5) and thereby de-repression of MEF2 (myocyte enhancer factor 2) transcription factor activity. In the present study we identify FHL1 (four-and-a-half LIM domains protein 1) and FHL2 as novel binding partners for PKD in cardia...
can bind to either ankyrin in vitro, what makes the channels preferentially bind to ankyrin G in vivo? To answer this question, Bréchet et al. homed in on the precise residues in sodium channels that are required for the interaction with ankyrin G. They pinpointed a sequence of residues that looked like a target for phosphorylation by CK2, and sure enough, it was. CK2 phosphorylated the sodium ...
BACKGROUND Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertrophy leading to premature death. METHODS AND RESULTS An ≈19 Mb critical region on X chromosome was identified through identity-by-descent analysis of 3...
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscular disorder characterized by early joint contractures, progressive muscular wasting and weakness of scapuloperoneal distribution, and at adult age, patients develop cardiac abnormalities with a high risk of sudden death [1]. EDMD encompasses both X-linked and autosomal inheritance due to mutations in the genes encoding the nuclear e...
Background: Autoantibodies targeting a muscle-specific autoantigen, four-and-a-half-LIM-domain 1 (FHL1), have been previously identified in patients with idiopathic inflammatory myopathies (IIM) (1). Objectives: The aim of this project was to determine the prevalence and associations anti-FHL antibody South Australian histologically-confirmed IIM an autoimmune disease control (systemic sclerosi...
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