A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract-Reference-Cited by-同舟云学术

A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

Published:2021-09-15 Issue:1 Volume:188 Page:310-313
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Zheng Bixia¹²,Wang Chunyan¹³,Seltzsam Steve¹,Schneider Sophia¹^ORCID,Schierbaum Luca¹,Wu Wilfred¹,Dai Rufeng¹,Connaughton Dervla M.¹,Nakayama Makiko¹,Mann Nina¹,Bauer Stuart B.⁴,Awad Hazem S.⁵,Eid Loai A.⁵,Tasic Velibor⁶,Shril Shirlee¹,Hildebrandt Friedhelm¹^ORCID

Affiliation:

1. Department of Pediatrics, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

2. Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing China

3. Department of Nephrology Children's Hospital of Fudan University Shanghai China

4. Department of Urology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

5. Pediatric Nephrology Department Dubai Hospital Dubai United Arab Emirates

6. Medical Faculty Skopje University Children's Hospital Skopje Macedonia

Funder

Foundation for the National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62502

Reference10 articles.

1. The nuclear receptor transcriptional coregulator RIP140

2. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

3. Congenital anomalies of the kidney and urinary tract genetics in mice and men

4. Nuclear factor RIP140 modulates transcriptional activation by the estrogen receptor.

5. Characterization of Four Autonomous Repression Domains in the Corepressor Receptor Interacting Protein 140

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