Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. [PDF]
PLoS ONE, 2017 The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms.
Katarina Braune +2 more
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alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants. [PDF]
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 +5 more sources
ALMS1-IT1: A Key Player in the Novel Disulfidptosis-Related LncRNA Prognostic Signature for Head and Neck Squamous Cell Carcinoma [PDF]
BiomoleculesDisulfidptosis is a newly discovered form of programmed cell death that is induced by disulfide stress. It is closely associated with various cancers, including head and neck squamous cell carcinoma (HNSCC).
Xin-Yi Sun +7 more
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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
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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
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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 +4 more sources
Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report [PDF]
BMC PediatricsBackground Alström syndrome (AS) is a rare autosomal recessive disorder that leads to multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is challenging due to its highly variabilities and its frequent confusion with other ...
Ming Hu +3 more
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Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes [PDF]
Computational and Structural Biotechnology JournalMetabolomic 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).
Ewa Zmysłowska-Polakowska +10 more
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Unique phenotypic–genotypic correlation in Saudi patients with ALMS1 mutations
Saudi Journal of Ophthalmology, 2023 Abstract Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome. This report illustrates the unique pattern of ALMS1-associated diseases in a set of three simplex Saudi patients originating from unrelated consanguineous families.
Basamat Almoallem
openaire +3 more sources
A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome [PDF]
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 +5 more
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