Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome [PDF]
Nature Genetics, 2002 Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome translocation (46, XY,t(2;11)(p13;q21)mat ...
Tom Hearn +2 more
exaly +6 more sources
Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population [PDF]
Diabetologia, 2006 Alström syndrome is a rare monogenic disorder characterised by retinal dystrophy, deafness and obesity. Patients also have insulin resistance, central obesity and dyslipidaemia, thus showing similarities with type 2 diabetes. Rare mutations in the ALMS1 gene cause severe gene disruption in Alström patients; however, ALMS1 gene polymorphisms are common ...
T M Frayling +2 more
exaly +5 more sources
Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity [PDF]
Frontiers in Molecular Biosciences, 2022 Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato +7 more
doaj +4 more sources
Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing [PDF]
Molecular Genetics & Genomic MedicineBackground Inherited eye disorders are a significant cause of vision loss worldwide. According to the World Health Organization (WHO) estimates approximately 2.2 billion people have some degree of vision loss, but a significant proportion of these are ...
Afeefa Jarral +5 more
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Exploring Contraindicated Medications and Corresponding Targeted Genes for Migraine Through Integrated Genetic Approaches [PDF]
Brain and BehaviorObjective To identify contraindicated medications and corresponding target genes for migraine and its subtypes. Method Utilizing the Genome‐Wide Association Studies (GWAS) for 14 medication‐use categories from UK Biobank and GWAS for migraine and its ...
Nan Wang +9 more
doaj +3 more sources
Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand [PDF]
AnimalsRecently, hypertrophic cardiomyopathy (HCM) in Sphynx cats has been associated with a variant in the gene encoding Alström syndrome protein 1 (ALMS1).
Joonbum Seo +6 more
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Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes [PDF]
Biology Direct, 2023 Background Alström syndrome (ALMS) is a rare autosomal recessive disease that is associated with mutations in ALMS1 gene. The main clinical manifestations of ALMS are retinal dystrophy, obesity, type 2 diabetes mellitus, dilated cardiomyopathy and multi ...
Brais Bea-Mascato +4 more
doaj +5 more sources
alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.
PLoS ONE, 2021 Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PDF]
PLoS ONE, 2012 Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Gayle B Collin +6 more
doaj +3 more sources
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. [PDF]
PLoS Genetics, 2007 Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Guochun Li +8 more
doaj +2 more sources