Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells-Reference-Cited by-同舟云学术

Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells

Published:2019-08-17 Issue:11 Volume:40 Page:2044-2056
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rath Abhijit¹,Mishra Akriti²,Ferreira Victoria Duque³,Hu Chaoran⁴⁵,Omerza Gregory⁶,Kelly Kevin⁶,Hesse Andrew⁶,Reddi Honey V.⁶,Grady James P.⁵,Heinen Christopher D.¹^ORCID

Affiliation:

1. Center for Molecular Oncology and Institute for Systems Genomics UConn Health Farmington Connecticut

2. Department of Molecular and Cell Biology University of Connecticut Storrs Connecticut

3. University of St. Joseph West Hartford Connecticut

4. Department of Statistics University of Connecticut Storrs Connecticut

5. Connecticut Institute for Clinical and Translational Science UConn Health Farmington Connecticut

6. Clinical Genomics Laboratory, The Jackson Laboratory for Genomic Medicine Farmington Connecticut

Funder

National Cancer Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23848

Reference74 articles.

1. A method and server for predicting damaging missense mutations

2. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

3. MSH2missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system

4. Microsatellite Instability in Colorectal Cancer

5. Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants

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