Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro-Reference-Cited by-同舟云学术

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Published:2016-01-12 Issue:3 Volume:37 Page:301-307
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cohen Ana S.A.¹²,Yap Damian B.³⁴,Lewis M.E. Suzanne¹²⁵,Chijiwa Chieko¹⁵,Ramos‐Arroyo Maria A.⁶,Tkachenko Natália⁷,Milano Valentina⁸,Fradin Mélanie⁹,McKinnon Margaret L.¹,Townsend Katelin N.¹²,Xu Jieqing¹²,Allen M.I.¹²⁵,Ross Colin J.D.¹¹⁰,Dobyns William B.¹¹¹²¹³,Weaver David D.¹⁴,Gibson William T.¹²

Affiliation:

1. Department of Medical Genetics University of British Columbia Vancouver British Columbia V6T 1Z3 Canada

2. Child and Family Research Institute Vancouver British Columbia V5Z 4H4 Canada

3. Department of Pathology and Laboratory Medicine University of British Columbia Vancouver British Columbia V6T 2B5 Canada

4. Department of Molecular Oncology British Columbia Cancer Research Centre Vancouver British Columbia V5Z 1L3 Canada

5. Children's and Women's Health Centre of British Columbia Vancouver British Columbia V6H 3N1 Canada

6. Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA Navarra Institute for Health Research Pamplona 31008 Spain

7. Medical Genetics Service, Medical Genetics Center Dr. Jacinto Magalhães Porto Hospital Center EPE Porto 4099‐001 Portugal

8. Instituto di Genetica Medica, Università Cattolica del Sacro Cuore Policlinico Universitario Agostino Gemelli Roma 00168 Italy

9. Service de Génétique Clinique Centre de Référence Anomalies du Développement CHU Rennes Rennes 35203 France

10. Department of Pediatrics, Division of Translation Therapeutics University of British Columbia Vancouver British Columbia V6H 3V4 Canada

11. Center for Integrative Brain Research Seattle Children's Hospital Seattle Washington 98101

12. Department of Pediatrics University of Washington Seattle Washington 98195

13. Department of Neurology University of Washington Seattle Washington 98105

14. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana 46202‐5251

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22946

Reference54 articles.

1. Weaver syndrome and defective cortical development: A rare association

2. Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

3. Akt-Mediated Phosphorylation of EZH2 Suppresses Methylation of Lysine 27 in Histone H3

4. Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

5. Ezh2 Orchestrates Topographic Migration and Connectivity of Mouse Precerebellar Neurons

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