Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

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http://www.wikidata.org/entity/Q28118506
Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.Uromodulin: from physiology to rare and complex kidney disorders.Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Autosomal Dominant Tubulointerstitial Kidney Disease.Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.An Update on Sec61 Channel Functions, Mechanisms, and Related Diseases.Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.Genetic Renal Diseases: The Emerging Role of Zebrafish ModelsNoninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseBiallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease RecognitionMechanism of Fibrosis in -Related Autosomal Dominant Tubulointerstitial Kidney Disease
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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Item
http://www.wikidata.org/entity/Q28118506
description
2016 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
im Juli 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2016/07/07)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/07/07)
@nl
наукова стаття, опублікована в липні 2016
@uk
مقالة علمية (نشرت في 7-7-2016)
@ar
name
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@ast
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@en
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@nl
type
label
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@ast
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@en
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@nl
prefLabel
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@ast
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@en
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@nl
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P698
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P932
P356
P1433
P1476
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2016.05.028
P407
P433
P478
P50
P577
P698
P921
P932