ArticleMolecular genetics & genomic medicine2017
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.Journal of medical genetics · 2023Pooled it
- An ALMS1 variant disrupts proximal centriole organization and promotes a myofibroblast-like phenotype that is regulated by THY1.Research square · 2026Article
- A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients.Archives of medical science : AMS · 2026Article
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024Review
- Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters.Molecular & cellular proteomics : MCP · 2024Article
- Alström syndrome-wide clinical variability within the same variant: a case report and literature review.Frontiers in pediatrics · 2024Article
- Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes.Biology direct · 2023Article
- Kidney failure in Bardet-Biedl syndrome.Clinical genetics · 2022Article
- A novel missenseFrontiers in genetics · 2022Article
- Alström syndrome with a novel mutation ofWorld journal of clinical cases · 2021Article
- BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.International journal of molecular sciences · 2021Article
- ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia.Frontiers in cell and developmental biology · 2021Article
- Article
- Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models.eLife · 2020Article
- The morbid genome of ciliopathies: an update.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants inFrontiers in genetics · 2020Article
- ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.Journal of molecular medicine (Berlin, Germany) · 2019Review
- Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.Molecular genetics and metabolism · 2018Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundAlström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested without assessment of ALMS1 expression.
methodsALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service. Exome sequencing was used in two participants without convincing biallelic
resultsIn 16 of the patient cell lines examined, ALMS1 protein was undetectable (14 with biallelic loss-of-function (LoF) mutations), and in two, ALMS1 staining was equivocal (one with biallelic LoF mutations). In five lines, ALMS1 expression was normal using at least one fixation method (one with biallelic LoF mutations). These differences were not accounted for by major differences in
conclusionMilder or atypical presentations of AS should prompt genetic evaluation for alternative, clinically overlapping ciliopathies. A subgroup of patients with
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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.