EPCAMmutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome-Reference-Cited by-同舟云学术

EPCAMmutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

Published:2018-11-29 Issue:2 Volume:40 Page:142-161
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pathak Sagar J.¹²,Mueller James L.¹,Okamoto Kevin¹,Das Barun¹,Hertecant Jozef³,Greenhalgh Lynn⁴,Cole Trevor⁵,Pinsk Vered⁶,Yerushalmi Baruch⁶,Gurkan Odul E.⁷,Yourshaw Michael⁸,Hernandez Erick⁹,Oesterreicher Sandy¹⁰,Naik Sandhia¹¹,Sanderson Ian R.¹¹,Axelsson Irene¹²,Agardh Daniel¹³,Boland C. Richard¹⁴,Martin Martin G.¹⁵,Putnam Christopher D.¹⁴¹⁶,Sivagnanam Mamata¹²^ORCID

Affiliation:

1. Department of Pediatrics; University of California, San Diego; La Jolla California

2. Rady Children's Hospital; San Diego California

3. Genetics/Metabolics Service; Tawam Hospital; Al Ain United Arab Emirates

4. Liverpool Women's NHS Foundation Trust; Liverpool UK

5. West Midlands Regional Genetics Service and Birmingham Health Partners; Birmingham Women's Hospital; Birmingham UK

6. Division of Pediatrics, Pediatric Gastroenterology Unit; Soroka University Medical Center and Faculty of Health Sciences; Ben-Gurion University of the Negev; Beer-Sheva Israel

7. Department of Pediatrics; Gazi University School of Medicine; Ankara Turkey

8. Department of Human Genetics; University of California, Los Angeles; Los Angeles California

9. Pediatric Gastroenterology; Miami Children's Health System; Miami Florida

10. Rocky Mountain Health Pediatric Gastroenterology; Lone Tree Colorado

11. Paediatric Gastroenterology; Barts and the London School of Medicine; London UK

12. Department of Pediatrics; Skane University Hospital; Malmo Sweden

13. Department of Clinical Sciences; Lund University, Skane University Hospital; Malmo Sweden

14. Department of Medicine; University of California, San Diego; La Jolla California

15. Department of Pediatrics; University of California, Los Angeles; Los Angeles California

16. San Diego Branch; Ludwig Institute for Cancer Research; La Jolla California

Funder

National Institutes of Health

NIH GM

NIH CA

California Institute for Regenerative Medicine

Ludwig Institute for Cancer Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23688/fullpdf

Reference134 articles.

1. Tufting enteropathy and chronic arthritis: A newly recognized association with a novel EpCAM gene mutation;Al-Mayouf;Journal of Pediatric Gastroenterology and Nutrition,2009

2. New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia;AlMahamed;Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association,2017

3. Inhibition of DNA methylation by antisense oligonucleotide MG98 as cancer therapy;Amato;Clinical Genitourinary Cancer,2007

4. EpCAM (CD326) finding its role in cancer;Baeuerle;British Journal of Cancer,2007

5. The structural analysis of adhesions mediated by Ep-CAM;Balzar;Experimental Cell Research,1999

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