ArticleHuman mutation2015
Alström Syndrome: Mutation Spectrum of ALMS1.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
91 citing papers in PubMed, 3 syntheses or guidelines pooled it, 151 citations in OpenAlex.
- Global trends and hotspots in diabetes and hearing loss: a 20-year systematic bibliometric study.Frontiers in medicine · 2026Pooled it
- Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.Journal of medical genetics · 2023Pooled it
- Consensus clinical management guidelines for Alström syndrome.Orphanet journal of rare diseases · 2020Pooled it
- Alström syndrome in a Chinese girl: a case report and literature review.Translational pediatrics · 2026Article
- Adaptable centriole biogenesis via the intrinsically disordered protein ALMS1.Nature communications · 2026Article
- Prevalence and Clinical Relevance of Alström Syndrome Protein 1 Gene Variant and Feline Hypertrophic Cardiomyopathy in Sphynx Cats in Thailand.Animals : an open access journal from MDPI · 2026Article
- Case Report: Identification of two novelFrontiers in genetics · 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
- Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.Orphanet journal of rare diseases · 2025Article
- Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.Microorganisms · 2025Article
- Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.Diabetology & metabolic syndrome · 2025Article
- Musculoskeletal deformities of Alström syndrome-a review of 55 cases.Orphanet journal of rare diseases · 2025Article
- Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.Translational vision science & technology · 2025Article
- Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in theComputational and structural biotechnology journal · 2025Article
- First live birth afterFrontiers in reproductive health · 2025Article
- Genetic Landscape of Obesity in Children: Research Advances and Prospects.Journal of obesity · 2025Review
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024Review
- Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report.BMC pediatrics · 2024Article
- Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies.Molecular medicine (Cambridge, Mass.) · 2024Review
- Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.International journal of molecular sciences · 2024Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure. The precise function of ALMS1 remains elusive, but roles in endosomal and ciliary transport and cell cycle regulation have been shown. The aim of our study was to further define the spectrum of ALMS1 mutations in patients with clinical features of ALMS. Mutational analysis in a world-wide cohort of 204 families identified 109 novel mutations, extending the number of known ALMS1 mutations to 239 and highlighting the allelic heterogeneity of this disorder. This study represents the most comprehensive mutation analysis in patients with ALMS, identifying the largest number of novel mutations in a single study worldwide. Here, we also provide an overview of all ALMS1 mutations identified to date.
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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.