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, Valverde Diana
exaly +3 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
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
BMC Ophthalmology, 2022 Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS.
Wan-Yu Cheng +5 more
doaj +3 more sources
Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes [PDF]
Computational and Structural Biotechnology JournalMetabolomic profiling enables the identification of specific biochemical alterations in various diseases, including rare monogenic diabetes and obesity syndromes such as Alström syndrome (ALMS) and Bardet–Biedl syndrome (BBS).
Ewa Zmysłowska-Polakowska +10 more
doaj +2 more sources
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients [PDF]
Genes, 2021 Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated
Brais Bea-Mascato +7 more
openaire +4 more sources
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity. [PDF]
Obesity (Silver Spring)ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Faccioli N +12 more
europepmc +2 more sources
Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy [PDF]
Disease Models & MechanismsEleanor J. McKay +7 more
doaj +2 more sources
Alström Syndrome: Mutation Spectrum ofALMS1 [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 mellitus, cardiomyopathy, fibrosis, and multiple organ failure.
Marshall, Jan D. +12 more
openaire +3 more sources