Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
about
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
P2860
Q36355151-5BC66987-B4F2-47E8-830D-D60CA847A87FQ38638219-712861DB-10EA-41B3-AC0A-701B1F6DDF60Q38894349-877A4E65-E186-4C57-A446-9FD589F76182Q38993202-D7B21E02-2B14-4A57-A66E-0B07416990DBQ39174016-58934E26-E06E-4759-987F-C6D31C55BE83Q40104307-0CF9F543-8475-4A0A-8B96-31F445C3AFA8Q41287767-9071890D-1806-43CB-95CA-BA2EA866D87EQ47073818-72AB1D18-4730-448B-BCE0-4C3359590B4AQ47096501-286EFBBE-EC0C-4694-B4E7-9843EDD35EFBQ47331609-6C1283EE-63FD-450F-83DD-C9137EAAE337Q47781166-EA9E33DF-5171-4888-B0AF-F50F93697DA2Q52715894-23EF3F91-FEEA-4F1A-AE3F-95DD73753DFFQ55339157-F6FEEB3B-4980-49A5-957A-88A5E7656B89Q56992139-FC0F05FE-C526-46C6-BC80-2A127738E62AQ57164422-CF5CB21A-AD83-46BF-81CF-1BE3BC54C8B5Q57990749-418E0E3C-00E4-422A-98D1-4903F2EAB06EQ58442482-26527F80-FB0F-4A9D-8100-4641DDA9A858
P2860
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
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
P2093
P2860
P50
P1476
Heterozygous Loss-of-Function ...... tic Kidney Disease with Anemia
@en
P2093
Alexander Hoischen
Anthony J Bleyer
Christine Van Hemelrijk
Dorien Schepers
Erve Matthys
Gaëlle Hayot
Geert Vandeweyer
Han Brunner
P2860
P304
P356
10.1016/J.AJHG.2016.05.028
P407
P50
P577
2016-07-07T00:00:00Z