Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
about
Genes and podocytes - new insights into mechanisms of podocytopathyGenetic Architecture of Atherosclerosis in Mice: A Systems Genetics Analysis of Common Inbred StrainsBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesExpansion of phenotype and genotypic data in CRB2-related syndromeGenetic testing in steroid-resistant nephrotic syndrome: when and how?Exploring the genetic basis of early-onset chronic kidney disease.Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.A small molecule screening to detect potential therapeutic targets in human podocytes.WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.The Genetics of Nephrotic Syndrome.Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.Monogenic Causes of Proteinuria in Children.Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
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P2860
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
description
2014 nî lūn-bûn
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2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
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2014年论文
@wuu
name
Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
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Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
@en
Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
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Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
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Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
@en
Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
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Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
@ast
Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
@en
Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
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P2093
P2860
P50
P1476
Loss-of-function mutations in ...... rome: Galloway-Mowat syndrome.
@en
P2093
Agnès Guichet
Anne Moncla
Brigitte Chabrol
Estelle Colin
Evelyne Huynh Cong
Laurence Richard
Laurent Daniel
Naig Gueguen
Zelal Ekinci
P2860
P304
P356
10.1016/J.AJHG.2014.10.011
P407
P50
P577
2014-11-13T00:00:00Z