Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report [PDF]
Experimental and Clinical Endocrinology & Diabetes Reports, 2017 Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected.
Hong Li, Lixin Shi, Lanrong Liu
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Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy [PDF]
Disease Models & MechanismsAlström Syndrome (AS), a multisystem disorder caused by biallelic ALMS1 mutations, features major early morbidity and mortality due to cardiac complications.
Eleanor J. McKay +7 more
doaj +5 more sources
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 +2 more sources
Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1 [PDF]
Gene, 2010 Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy.
Cosma Spalluto +18 more
core +4 more sources
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
doaj +2 more sources
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 +2 more
exaly +3 more sources
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
doaj +2 more sources
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
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 +3 more sources
Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene [PDF]
Diabetology & Metabolic SyndromeBackground Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics. Method Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole
Huifang Peng +7 more
doaj +2 more sources
Drosophila Alms1 proteins regulate centriolar cartwheel assembly by enabling Plk4-Ana2 amplification loop [PDF]
The EMBO JournalCentrioles play a central role in cell division by recruiting pericentriolar material (PCM) to form the centrosome. Alterations in centriole number or function lead to various diseases including cancer or microcephaly.
Marine Brunet +8 more
doaj +2 more sources