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
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Prevalence and Clinical Relevance of Alström Syndrome Protein 1 Gene Variant and Feline Hypertrophic Cardiomyopathy in Sphynx Cats in Thailand [PDF]
AnimalsFeline hypertrophic cardiomyopathy (HCM) is the most common cardiac disease in cats, causing morbidity and mortality. Recently, a variant in the Alström syndrome protein 1 (ALMS1) gene has been reported to be associated with HCM in Sphynx cats.
Metita Sussadee +5 more
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Neonatal-onset dilated cardiomyopathy as the initial manifestation of Alström syndrome: a case report [PDF]
Frontiers in PediatricsBackgroundObesity–retinopathy–diabetes syndrome, also known as Alström syndrome (AS), is an extremely rare autosomal recessive disorder caused by pathogenic variants in the Alström syndrome 1 (ALMS1) gene. Its estimated incidence is 1–9 cases per million,
Hua Wang +9 more
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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
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Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis [PDF]
Nature CommunicationsCiliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto +19 more
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Case Reports in Ophthalmological Medicine, 2022 Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan +3 more
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Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features [PDF]
Orphanet Journal of Rare DiseasesBackground Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan ...
Yiguo Huang +8 more
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Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome. [PDF]
Intern Med, 2021 Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism.
Wang C +13 more
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Frontiers in Genetics, 2020 Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Laura Mauring +13 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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