ArticleNature communications2014
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
What it found
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Who cites it
54 citing papers in PubMed, 89 citations in OpenAlex.
- Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension.Acta physiologica (Oxford, England) · 2026Article
- Neonatal-onset dilated cardiomyopathy as the initial manifestation of Alström syndrome: a case report.Frontiers in pediatrics · 2026Article
- Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models.Scientific reports · 2025Article
- Function and Molecular Mechanism of Circhomer1 in Myogenesis.International journal of molecular sciences · 2025Article
- Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.Translational vision science & technology · 2025Article
- Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing.Scientific reports · 2025Article
- Article
- Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy.Disease models & mechanisms · 2024Article
- Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.Yonago acta medica · 2024Review
- Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?GeroScience · 2024Article
- Alström syndrome-wide clinical variability within the same variant: a case report and literature review.Frontiers in pediatrics · 2024Article
- Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis.Frontiers in pediatrics · 2024Review
- Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes.Biology direct · 2023Article
- Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.The Journal of international medical research · 2023Article
- Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy.Circulation · 2023Article
- Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.Orphanet journal of rare diseases · 2022Review
- Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report.World journal of clinical cases · 2022Article
- Depletion ofFrontiers in molecular biosciences · 2022Article
- Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.Internal medicine (Tokyo, Japan) · 2021Article
- Maturing heart muscle cells: Mechanisms and transcriptomic insights.Seminars in cell & developmental biology · 2021Review
Corrections and comments
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Authors and funding
28 authors at 5 institutions in 2 countries.
Funding
Abstract
Cardiomyocyte cell division and replication in mammals proceed through embryonic development and abruptly decline soon after birth. The process governing cardiomyocyte cell cycle arrest is poorly understood. Here we carry out whole-exome sequencing in an infant with evidence of persistent postnatal cardiomyocyte replication to determine the genetic risk factors. We identify compound heterozygous ALMS1 mutations in the proband, and confirm their presence in her affected sibling, one copy inherited from each heterozygous parent. Next, we recognize homozygous or compound heterozygous truncating mutations in ALMS1 in four other children with high levels of postnatal cardiomyocyte proliferation. Alms1 mRNA knockdown increases multiple markers of proliferation in cardiomyocytes, the percentage of cardiomyocytes in G2/M phases, and the number of cardiomyocytes by 10% in cultured cells. Homozygous Alms1-mutant mice have increased cardiomyocyte proliferation at 2 weeks postnatal compared with wild-type littermates. We conclude that deficiency of Alström protein impairs postnatal cardiomyocyte cell cycle arrest.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.