Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the <i>ALMS1/BBS</i> genes. [PDF]
Comput Struct Biotechnol JZmysłowska-Polakowska E +10 more
europepmc +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
Tian Luan +7 more
doaj +2 more sources
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 +2 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 ...
Sheila K. Patel +9 more
semanticscholar +5 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 +5 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 +5 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
Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features [PDF]
Orphanet Journal of Rare DiseasesBackground Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan ...
Yiguo Huang +8 more
doaj +2 more sources
Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members [PDF]
MicroorganismsAlström (ALMS) and Bardet-Biedl syndromes (BBS) are rare ciliopathies characterized by obesity and hyperglycemia that lead to type 2 diabetes, but also other disorders, including neurodegeneration.
Ewa Zmysłowska-Polakowska +6 more
doaj +2 more sources
Musculoskeletal deformities of Alström syndrome-a review of 55 cases [PDF]
Orphanet Journal of Rare DiseasesIntroduction Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium.
Subadra Wanninayake +5 more
doaj +2 more sources