Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations-Reference-Cited by-同舟云学术

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

Published:2012-06-23 Issue:11 Volume:131 Page:1725-1738
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Chatterjee Rajshekhar,Ramos Enrique,Hoffman Mary,VanWinkle Jessica,Martin Daniel R.,Davis Thomas K.,Hoshi Masato,Hmiel Stanley P.,Beck Anne,Hruska Keith,Coplen Doug,Liapis Helen,Mitra Robi,Druley Todd,Austin Paul,Jain Sanjay

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-012-1181-3.pdf

Reference40 articles.

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

2. Akbulut S, Reddi AL, Aggarwal P, Ambardekar C, Canciani B, Kim MKH, Hix L, Vilimas T, Mason J, Basson MA, Lovatt M, Powell J, Collins S, Quatela S, Phillips M, Licht JD (2010) Sprouty proteins inhibit receptor-mediated activation of phosphatidylinositol-specific phospholipase C. Mol Biol Cell 21:3487–3496

3. Amiel J, Salomon R, Attie T, Pelet A, Trang H, Mokhtari M, Gaultier C, Munnich A, Lyonnet S (1998) Mutations of the RET-GDNF signaling pathway in Ondine’s curse. Am J Hum Genet 62:715–717

4. Baloh RH, Enomoto H, Johnson EM Jr, Milbrandt J (2000) The GDNF family ligands and receptors—implications for neural development. Curr Opin Neurobiol 10:103–110

5. Basson MA, Akbulut S, Watson-Johnson J, Simon R, Carroll TJ, Shakya R, Gross I, Martin GR, Lufkin T, McMahon AP, Wilson PD, Costantini FD, Mason IJ, Licht JD (2005) Sprouty1 is a critical regulator of GDNF/RET-mediated kidney induction. Dev Cell 8:229–239

Cited by 80 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular Pathogenesis of Lung Cancer: Evolving Landscapes Based on Past Experience;Molecular Biomarkers for Cancer Diagnosis and Therapy;2024

2. Harnessing mechanobiology for kidney organoid research;Frontiers in Cell and Developmental Biology;2023-11-24

3. Congenital Anomalies of the Kidney and Urinary Tract;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2023

4. Disorders of Kidney Formation;Pediatric Kidney Disease;2023

5. Physiology and Development of the Term and Preterm Neonate;Neonatal Anesthesia;2023