ArticleHuman molecular genetics2009
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis 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.
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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.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Stem cells and discogenic back pain.British medical bulletin · 2023Pooled it
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- Pathways to enhancing prenatal diagnosis of skeletal dysplasias.Pregnancy (Hoboken, N.J.) · 2026Review
- The master male sex determinant Gdf6Y of the turquoise killifish arose through allelic neofunctionalization.Nature communications · 2025Article
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish.Frontiers in cell and developmental biology · 2024Review
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- BMP3 is a novel locus involved in the causality of ocular coloboma.Human genetics · 2022Article
- Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Article
- Rare heterozygous GDF6 variants in patients with renal anomalies.European journal of human genetics : EJHG · 2020Article
- GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.Cell reports · 2020Article
- Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration.Translational research : the journal of laboratory and clinical medicine · 2020Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Article
- Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- Growth and Behavior of Congenitally Anophthalmic Lee-Sung Pigs.Comparative medicine · 2019Article
- Phospholipid membranes drive abdominal aortic aneurysm development through stimulating coagulation factor activity.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 9 institutions in 5 countries.
Funding
Abstract
Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seven heterozygous mutations in growth differentiation factor 6 (GDF6), a member of the BMP family, in patients with both ocular and vertebral anomalies, characterized their effects with a SOX9-reporter assay and western analysis, and demonstrated comparable phenotypes in model organisms with reduced Gdf6 function. We observed a spectrum of ocular and skeletal anomalies in morphant zebrafish, the latter encompassing defective tail formation and altered expression of somite markers noggin1 and noggin2. Gdf6(+/-) mice exhibited variable ocular phenotypes compatible with phenotypes observed in patients and zebrafish. Key differences evident between patients and animal models included pleiotropic effects, variable expressivity and incomplete penetrance. These data establish the important role of this determinant in ocular and vertebral development, demonstrate the complex genetic inheritance of these phenotypes, and further understanding of BMP function and its contributions to human disease.
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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.