Results 31 to 40 of about 1,783 (168)

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action [PDF]

International Journal of Obesity, 2010
Alström syndrome is a rare genetic syndrome associated with early-onset obesity, severe insulin resistance (IR) that is disproportionate to the degree of adiposity and premature diabetes. The ALMS1 gene, which is mutated in Alström syndrome, encodes a giant 460 kDa centrosome- and basal body-associated protein.
Isabel Huang-Doran, Robert K Semple, Semple R K   +2 more
exaly   +3 more sources

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells [PDF]

Genes (Basel)
Background/Objectives: Human induced pluripotent stem cell (hiPSC) models provide a unique platform for testing the effect of genomic variants identified in patients with inherited diseases. In Alström syndrome, a rare multisystem disorder mainly caused by nonsense mutations in the ALMS1 gene, patients often present with infantile cardiomyopathy ...
Dargar T, Janin A, Risson V, Lafont E, Valla C, Gache V, Abitbol M.   +6 more
europepmc   +3 more sources

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome

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, Ke Xu, Xin Zhang, Yue Xie, Haoyu Chang, Yang Li   +5 more
doaj   +3 more sources

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members [PDF]

Microorganisms
Alström (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, Tomasz Płoszaj, Sebastian Skoczylas, Julia Grzybowska-Adamowicz, Aleksandra Palatyńska-Ulatowska, Monika Łukomska-Szymańska, Agnieszka Zmysłowska   +6 more
doaj   +2 more sources

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research, 2020
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > 
Xiaoli Ji, Qingyuan Tang, Chuanqing Tang, Ziyan Wu, Ling Ma, Xiaohong Guo, Guoqiang Cheng, Yuejun Chen, Tong Yang, Man Xiong, Wenhao Zhou   +10 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 <i>ALMS1/BBS</i> genes. [PDF]

Comput Struct Biotechnol J
Metabolomic 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). These disorders are characterized by early-onset obesity, insulin resistance, diabetes mellitus, retinodystrophy and other ...
Zmysłowska-Polakowska E, Mojsak P, Skoczylas S, Sołowiej K, Chmielewska S, Grzybowska-Adamowicz J, Palatynska-Ulatowska A, Lukomska-Szymanska M, Kretowski A, Zmysłowska A, Ciborowski M.   +10 more
europepmc   +4 more sources

Musculoskeletal deformities of Alström syndrome-a review of 55 cases [PDF]

Orphanet Journal of Rare Diseases
Introduction 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, Richard Paisey, Hitesh Dabasia, Ashley Cole, Charlotte Dawson, Tarekegn Hiwot   +5 more
doaj   +2 more sources

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus [PDF]

Diabetologia, 2003
Leen M 'T Hart, J M Dekker, R J Heine
exaly   +3 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 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Jaykumar AB, Monu SR, Xu J, Mendez M, Yang XP, Rhaleb NE, Ortiz PA.   +6 more
europepmc   +2 more sources

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source