Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)-Reference-Cited by-同舟云学术

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Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

Published:2012-02-20 Issue:3 Volume:76 Page:261-267
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:

Author:

Combes Patricia,Planche Vincent,Eymard-Pierre Eléonore,Sarret Catherine,Rodriguez Diana,Boespflug-Tanguy Odile,Vaurs-Barriere Catherine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2011.00702.x/fullpdf

Reference30 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy;Bernard;Am J Hum Genet,2011

3. Genes involved in leukodystrophies: A glance at glial functions;Boespflug-Tanguy;Curr Neurol Neurosci Rep,2008

4. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am J Hum Genet,2007

5. Prediction of human mRNA donor and acceptor sites from the DNA sequence;Brunak;J Mol Biol,1991

Cited by 5 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. The pathophysiological role of novel pulmonary arterial hypertension gene SOX17;European Respiratory Journal;2021-02-25

2. SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations;Trends in Genetics;2019-09

3. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract;Journal of the American Society of Nephrology;2017-05-31

4. Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux;Pediatric Nephrology;2015-09-25

5. Sox17 inhibits hepatocellular carcinoma progression by downregulation of KIF14 expression;Tumor Biology;2014-08-10

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