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
doaj +9 more sources
New variants of ALMS1 gene and familial Alström syndrome case series [PDF]
Brazilian Journal of OtorhinolaryngologyObjectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
Isabela Carvalho De Queiroz +2 more
exaly +7 more sources
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 +10 more sources
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. [PDF]
PLoS ONE, 2017 The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms.
Katarina Braune +2 more
doaj +6 more sources
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
Expression of ALMS1 in podocytes: possible role in filtration function [PDF]
The FASEB Journal, 2022 Previously, we identified Alstrom Syndrome 1 (ALMS1) as an interacting partner of NKCC2 in the Thick Ascending limb of the loop of Henle (TAL). Mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by progressive metabolic ...
Monu, Sumit R +3 more
core +2 more sources
Alström Syndrome: Mutation Spectrum of ALMS1 [PDF]
Human Mutation, 2015 Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes ...
FAVARETTO, FRANCESCA +17 more
core +5 more sources
Alms1-disrupted mice recapitulate human Alstrom syndrome. [PDF]
Human Molecular Genetics, 2005 Mutations in the human ALMS1 gene cause Alstrom syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including childhood obesity, hyperinsulinemia and Type 2 diabetes.
Hicks, W +10 more
core +4 more sources
Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension. [PDF]
Acta Physiol (Oxf)ABSTRACT Alström syndrome 1 (ALMS1) is a protein linked to Alström syndrome, a rare genetic disorder characterized by obesity, insulin resistance, hyperinsulinemia, and hypertension. Genetic studies have further associated Alms1
Jaykumar AB +6 more
europepmc +5 more sources
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 +7 more sources