Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome [PDF]
Frontiers in Genetics, 2018 Alström syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is often required in making differential diagnosis but usually costly in time and effort using ...
Meng-Che Tsai +8 more
doaj +5 more sources
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts [PDF]
EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
doaj +8 more sources
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 +10 more
doaj +5 more sources
Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes [PDF]
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 +4 more
doaj +3 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
Exploring Contraindicated Medications and Corresponding Targeted Genes for Migraine Through Integrated Genetic Approaches [PDF]
Brain and BehaviorObjective To identify contraindicated medications and corresponding target genes for migraine and its subtypes. Method Utilizing the Genome‐Wide Association Studies (GWAS) for 14 medication‐use categories from UK Biobank and GWAS for migraine and its ...
Nan Wang +9 more
doaj +3 more sources
ALSTRÖM SYNDROME CAUSED BY DELETION IN ALMS1 GENE FIXED IN A NORTHERN PAKISTAN RECURRENT HAPLOTYPE
Indian Journal of Case Reports, 2017 Reduced genetic variability in isolated populations promotes the prevalence of long contiguous stretches of homozygosity (LCSH) that may carry deleterious mutations, manifesting recessive syndromes such as Alstrom syndrome (OMIM # 203800), caused ...
Carolina Monzó +7 more
semanticscholar +4 more sources
Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand [PDF]
AnimalsRecently, hypertrophic cardiomyopathy (HCM) in Sphynx cats has been associated with a variant in the gene encoding Alström syndrome protein 1 (ALMS1).
Joonbum Seo +6 more
doaj +3 more sources
Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus [PDF]
Diabetologia, 2003 Leen M. ‘t Hart +3 more
semanticscholar +5 more sources
A large multiexonic genomic deletion within the
Clinical Genetics, 2015 Konstantinos Nikopoulos +10 more
semanticscholar +5 more sources