New variants of ALMS1 gene and familial Alström syndrome case series [PDF]
Brazilian Journal of OtorhinolaryngologyObjectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
Isabela Carvalho de Queiroz +6 more
doaj +5 more sources
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated
Kathryn M. Meurs +9 more
doaj +3 more sources
Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families [PDF]
Frontiers in Pediatrics, 2021 Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Omar I. Saadah +18 more
doaj +4 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
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 +6 more sources
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome [PDF]
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 +2 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 +2 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 +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