De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review-Reference-Cited by-同舟云学术

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

Published:2018-04-14 Issue:5 Volume:93 Page:1000-1007
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

van den Akker W.M.R.¹^ORCID,Brummelman I.¹,Martis L.M.¹,Timmermans R.N.¹,Pfundt R.¹,Kleefstra T.¹,Willemsen M.H.¹,Gerkes E.H.²,Herkert J.C.²,van Essen A.J.²,Rump P.²,Vansenne F.²,Terhal P.A.³,van Haelst M.M.³⁴,Cristian I.⁵,Turner C.E.⁶,Cho M.T.⁷,Begtrup A.⁷,Willaert R.⁷,Fassi E.⁸,van Gassen K.L.I.³,Stegmann A.P.A.⁹,de Vries B.B.A.¹,Schuurs-Hoeijmakers J.H.M.¹

Affiliation:

1. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

2. Department of Genetics; University Medical Center Groningen, University of Groningen; Groningen The Netherlands

3. Department of Genetics; University Medical Centre Utrecht; Utrecht The Netherlands

4. Department of Clinical Genetics; AMC/VUmc; Amsterdam The Netherlands

5. Division of Genetics and Metabolism, Department of Pediatrics; Nemours Children's Hospital Orlando; Orlando Florida

6. Department of Genetics; Walter Reed National Military Medical Center; Bethesda Maryland

7. GeneDx; Gaithersburg Maryland

8. Division of Genetics and Genomic Medicine, Department of Pediatrics; Washington University School of Medicine; St Louis Missouri

9. Department of Human Genetics; Maastricht University Hospital; Maastricht The Netherlands

Funder

Dutch Organization for Health Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13225/fullpdf

Reference16 articles.

1. Structural and functional analysis of the Cdk13/Cyclin K complex;Greifenberg;Cell Rep,2016

2. Characterization of human cyclin-dependent kinase 12 (CDK12) and CDK13 complexes in C-terminal domain phosphorylation, gene transcription, and RNA processing;Liang;Mol Cell Biol,2015

3. The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes;Blazek;Genes Dev,2011

4. Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression;Chen;Exp Neurol,2014

5. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders;Bostwick;Genome Med,2017

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease;International Journal of Molecular Sciences;2024-02-01

2. Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum;Genes;2023-10-17

3. The spreading of facultative H3K9me3-heterochromatin drives congenital disease;2023-08-14

4. A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant;Case Reports in Genetics;2023-06-14

5. Oncogenic CDK13 mutations impede nuclear RNA surveillance;Science;2023-04-21