Results 31 to 40 of about 1,602 (139)

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

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

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

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family. [PDF]

Mol Genet Genomic Med, 2023
AbstractBackgroundAlström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population.MethodsEmploying an ...
Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA.   +12 more
europepmc   +3 more sources

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.

PLoS ONE, 2021
Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
doaj   +1 more source

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, Poitou C, Georget M, Bertin F, Azar-Kolakez A, Carette C, Faucher P, Gatta-Cherifi B, Gonneau-Lejeune J, Linglart A, Clément K, Le Beyec‐Le Bihan J, Dubern B.   +12 more
europepmc   +2 more sources

Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes

Biology Direct, 2023
Background Alström syndrome (ALMS) is a rare autosomal recessive disease that is associated with mutations in ALMS1 gene. The main clinical manifestations of ALMS are retinal dystrophy, obesity, type 2 diabetes mellitus, dilated cardiomyopathy and multi ...
Brais Bea-Mascato, Eduardo Gómez-Castañeda, Yara E. Sánchez-Corrales, Sergi Castellano, Diana Valverde   +4 more
doaj   +1 more source