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.
Eleanor J Mckay +2 more
exaly +13 more sources
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.
Maria Álvarez-Satta +2 more
exaly +10 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 ...
Nicholas Gekakis, Christopher C Goodnow
exaly +8 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
doaj +3 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 +2 more
exaly +5 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
Tian Luan, Song-Liu Hu
exaly +2 more sources
Prevalence and Clinical Relevance of Alström Syndrome Protein 1 Gene Variant and Feline Hypertrophic Cardiomyopathy in Sphynx Cats in Thailand [PDF]
AnimalsFeline hypertrophic cardiomyopathy (HCM) is the most common cardiac disease in cats, causing morbidity and mortality. Recently, a variant in the Alström syndrome protein 1 (ALMS1) gene has been reported to be associated with HCM in Sphynx cats.
Metita Sussadee +5 more
doaj +2 more sources
Frontiers in Genetics, 2023 Purpose: Alström syndrome (AS) is a rare autosomal recessive disorder caused by variants of ALMS1. The objectives of this study were to describe the clinical and genetic characteristics of 19 Chinese patients with biallelic variants in ALMS1.Methods: We ...
Jie Shi +5 more
exaly +3 more sources
Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis [PDF]
Nature CommunicationsCiliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto +19 more
doaj +2 more sources
Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models [PDF]
Scientific ReportsThe primary cilium is a sensory organelle that extends from the plasma membrane. It plays a vital role in physiological and developmental processes by controlling different signalling pathways such as WNT, Sonic hedgehog (SHh), and transforming growth ...
Brais Bea-Mascato +6 more
doaj +2 more sources