ArticleAmerican journal of human genetics2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 116 citations in OpenAlex.
- Virus-Derived Domesticated Genes in Microglia and Resident Macrophages: Insights into Placenta-Driven Evolution in Mammals.International journal of molecular sciences · 2026Review
- First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.Journal of surgical case reports · 2026Article
- 3-M syndrome: evolution of the phenotype over time.Italian journal of pediatrics · 2025Review
- Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.Endocrine · 2025Article
- Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature.The application of clinical genetics · 2025Article
- 3M syndrome with novelFrontiers in pediatrics · 2025Article
- Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.The application of clinical genetics · 2025Article
- Evolution of Virus-like Features and Intrinsically Disordered Regions in Retrotransposon-derived Mammalian Genes.Molecular biology and evolution · 2024Article
- 3M syndrome patient with a novel mutation: A case report.World journal of clinical cases · 2024Article
- Establishment of the 3M syndrome animal model in CCDC8 knockout mice.Molecular biomedicine · 2023Article
- Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization.Animals : an open access journal from MDPI · 2023Article
- The life and times of endogenous opioid peptides: Updated understanding of synthesis, spatiotemporal dynamics, and the clinical impact in alcohol use disorder.Neuropharmacology · 2023Review
- Structure of CRL7Nature structural & molecular biology · 2022Article
- A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.PloS one · 2022Article
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.The Journal of clinical endocrinology and metabolism · 2021Article
- The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.Yonsei medical journal · 2020Article
- The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease.International journal of molecular sciences · 2020Review
- Molecular basis of a new ovine model for human 3M syndrome-2.BMC genetics · 2020Article
- Tricistronic expression of MOAP-1, Bax and RASSF1A in cancer cells enhances chemo-sensitization that requires BH3L domain of MOAP-1.Journal of cancer research and clinical oncology · 2020Article
- Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.Journal of clinical laboratory analysis · 2020Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
Abstract
3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. CCDC8 is a widely expressed gene that is transcriptionally associated to CUL7 and OBSL1, and coimmunoprecipitation indicates a physical interaction between CCDC8 and OBSL1 but not CUL7. We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth.
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