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CCDC8 gene

Known as: PPP1R20, CCDC8, DKFZp564K0322 
National Institutes of Health

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THREE M SYNDROME 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome
3M syndrome is characterized by severe pre‐ and postnatal growth retardation, typical facial features, and normal intelligence… 
2017
2017
Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China
Background/Aims: Hepatocellular carcinoma (HCC) is a common malignant tumor with a high rate of recurrence. Immunohistochemical… 
2017
2017
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome
Background: Short stature can be caused by mutations in a multitude of different genes. 3-M syndrome is a rare growth disorder… 
Review
2015
Review
2015
The GALNT9, BNC1 and CCDC8 genes are frequently epigenetically dysregulated in breast tumours that metastasise to the brain
BackgroundTumour metastasis to the brain is a common and deadly development in certain cancers; 18–30 % of breast tumours… 
Highly Cited
2014
Highly Cited
2014
The 3M complex maintains microtubule and genome integrity.
2014
2014
Identifying biological pathways that underlie primordial short stature using network analysis
Mutations in CUL7, OBSL1 and CCDC8, leading to disordered ubiquitination, cause one of the commonest primordial growth disorders… 
2013
2013
Clinical Utility Gene Card for: 3-M syndrome - Update 2013
Update to: European Journal of Human Genetics (2011) 19,31 July 2013; doi:10.1038/ejhg.2011.32; published online 2 March 2011 
Review
2012
Review
2012
Exploring the spectrum of 3‐M syndrome, a primordial short stature disorder of disrupted ubiquitination
3‐M syndrome is an autosomal recessive primordial growth disorder characterized by small birth size and post‐natal growth… 
Highly Cited
2011
Highly Cited
2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Review
2011
Review
2011
The Genetics of 3-M Syndrome: Unravelling a Potential New Regulatory Growth Pathway
3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by… 
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