ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia [PDF]
Frontiers in Cell and Developmental Biology, 2021 In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line.
Søren T Christensen +2 more
exaly +9 more sources
Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome [PDF]
Molecular Metabolism, 2023 Objective: Alström Syndrome (AS), caused by biallelic ALMS1 mutations, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and fatty liver.
Robert K Semple +2 more
exaly +10 more sources
New variants of ALMS1 gene and familial Alström syndrome case series
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.
Thais Elias +2 more
exaly +7 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.
Diana Valverde, Brais Bea-Mascato
exaly +4 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 +5 more sources
Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension
Acta Physiologica, Volume 242, Issue 3, March 2026.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 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Ankita B. Jaykumar +6 more
wiley +5 more sources
Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand
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 +4 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 +3 more sources
FEBS Open Bio, 2021 Lung adenocarcinoma (LUAD) is the primary epithelial tumor of the lung. The lack of clinical symptoms and specific molecular diagnostic indicators during the early stages of LUAD mean that the disease may not be detected until late stages, and the 5‐year
Song-Liu Hu, Tian Luan
exaly +2 more sources