A null founder variant in <scp> <i>NPNT</i> </scp> , encoding nephronectin, causes autosomal recessive renal agenesis-Reference-Cited by-同舟云学术

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A null founder variant in NPNT , encoding nephronectin, causes autosomal recessive renal agenesis

Published:2022-03-22 Issue:1 Volume:102 Page:61-65
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Al‐Hamed Mohamed H.¹^ORCID,Altuwaijri Norah²,Alsahan Nada³,Ali Wafaa¹,Abdulwahab Firdous²,Alzahrani Fatema²,Majrashi Nada²,Alkuraya Fowzan S.²⁴^ORCID

Affiliation:

1. Department of Clinical Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

2. Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

3. Department of Obstetrics and Genecology King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

4. Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14128

Reference21 articles.

1. Transcriptional control of kidney development

2. The Cellular Basis of Kidney Development

3. Nephric lineage specification by Pax2 and Pax8

4. Nephric duct insertion is a crucial step in urinary tract maturation that is regulated by aGata3-Raldh2-Retmolecular network in mice

5. GroteD SouabniA BusslingerM BouchardM.Pax2/8‐regulated Gata3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney.2006;133(1):53‐61.

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1. Genetics of chronic respiratory disease;Nature Reviews Genetics;2024-03-06

2. The genetic etiologies of bilateral renal agenesis;Prenatal Diagnosis;2024-01-05

3. The genetics and pathogenesis of CAKUT;Nature Reviews Nephrology;2023-07-31

4. Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract;Genes;2022-09-21

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