ArticleAmerican journal of human genetics1995
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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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.
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Who cites it
57 citing papers in PubMed, 205 citations in OpenAlex.
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
- Genomic comparisons and the adaptive basis of brain size plasticity and chromosomal instability in the Eurasian common shrew.Molecular biology and evolution · 2026Article
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- Identification of potential causative gene of anorectal malformation : Short title: causative gene of anorectal malformation.Scientific reports · 2025Article
- Novel Variants ofInternational journal of molecular sciences · 2023Article
- Evolutionary Landscape ofGenes · 2023Article
- Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions.Plastic and reconstructive surgery. Global open · 2022Article
- Case report: AFrontiers in pediatrics · 2022Article
- Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.Frontiers in endocrinology · 2022Article
- SOX9 inactivation affects the proliferation and differentiation of human lung organoids.Stem cell research & therapy · 2021Article
- Regulation and Role of Transcription Factors in Osteogenesis.International journal of molecular sciences · 2021Review
- Review
- Single-Cell Multiomic Approaches Reveal Diverse Labeling of the Nervous System by Common Cre-Drivers.Frontiers in cellular neuroscience · 2021Article
- Article
- Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development.Frontiers in physiology · 2020Review
- Dominant-negative SOX9 mutations in campomelic dysplasia.Human mutation · 2019Article
- De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.American journal of human genetics · 2019Article
- sox9b is required in cardiomyocytes for cardiac morphogenesis and function.Scientific reports · 2018Article
- From skeletal development to the creation of pluripotent stem cell-derived bone-forming progenitors.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Review
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10 authors at 1 institution in 1 country.
Funding
Abstract
Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was employed to identify mutations in SOX9, the chromosome 17q24 gene responsible for CD and autosomal sex reversal in man. We have screened seven CD patients with no cytologically detectable chromosomal aberrations and two CD patients with chromosome 17 rearrangements for mutations in the entire open reading frame of SOX9. Five different mutations have been identified in six CD patients: two missense mutations in the SOX9 putative DNA binding domain (high mobility group, or HMG, box); three frameshift mutations and a splice-acceptor mutation. An identical frameshift mutation is found in two unrelated 46,XY patients, one exhibiting a male phenotype and the other displaying a female phenotype (XY sex reversal). All mutations found affect a single allele, which is consistent with a dominant mode of inheritance. No mutations were found in the SOX9 open reading frame of two patients with chromosome 17q rearrangements, suggesting that the translocations affect SOX9 expression. These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9.
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Identifiers
7485151PMC1801368W1482955037What OpenQuestion holds
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.