A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213-Reference-Cited by-同舟云学术

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

Published:2021-05-07 Issue:7 Volume:185 Page:2168-2174
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Strong Alanna¹²^ORCID,O'Grady Gina³,Shih Evelyn⁴⁵,Bishop Jonathan R.⁶,Loomes Kathleen⁷⁸,Diamond Tamir⁷,Hartung Erum A.⁹¹⁰,Wong William¹¹,Cuddapah Sanmati¹¹⁰^ORCID,Cahill Anne Marie¹²¹³,Hou Cuiping²,Slater Diana²,Vaccaro Courtney²,Watson Deborah²,Li Dong²,Hakonarson Hakon¹²¹⁰¹⁴^ORCID

Affiliation:

1. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. The Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Pediatric Neuroservices, Starship Children's Health Auckland District Health Board Auckland New Zealand

4. Division of Neurology, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. Department of Neurology, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

6. Department of Pediatric Gastroenterology, Starship Child Health Auckland District Health Board Auckland New Zealand

7. Division of Gastroenterology, Hepatology, and Nutrition Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

8. Division of Gastroenterology, Hepatology, and Nutrition University of Pennsylvania Philadelphia Pennsylvania USA

9. Division of Nephology, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

10. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

11. Department of Pediatric Nephrology, Starship Child Health Auckland District Health Board Auckland New Zealand

12. Division of Interventional Radiology, Department of Radiology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

13. Department of Radiology, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

14. Division of Pulmonary Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62215

Reference31 articles.

1. S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy

2. PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia

3. RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

4. Maladie de Moya-Moya associée à une angiodysplasie rénale chez un enfant

5. Clinical Presentation and Stroke Incidence Differ by Moyamoya Etiology

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