Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure
about
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaUnilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK.Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.Hereditary interstitial kidney diseaseClinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisoneCharacterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failureA protocol for the identification and validation of novel genetic causes of kidney diseasePhenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutationsAutosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.Cystic kidney diseases: many ways to form a cyst.Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.Genetics of hyperuricemia and gout: implications for the present and future.Renal tubular dysgenesis.Uromodulin: from monogenic to multifactorial diseases.An approach to cystic kidney diseases: the clinician's view.Uromodulin: from physiology to rare and complex kidney disorders.From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.Nephron number, hypertension, and CKD: physiological and genetic insight from humans and animal models.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.Successful treatment of hypertension in anuric hemodialysis patients with a direct Renin inhibitor, aliskiren.Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.Inborn errors of purine metabolism: clinical update and therapies.Identification of four genes as novel susceptibility loci for early-onset type 2 diabetes mellitus, metabolic syndrome, or hyperuricemia.Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.Noninvasive 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
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P2860
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Dominant renin gene mutations ...... ia, and chronic kidney failure
@ast
Dominant renin gene mutations ...... ia, and chronic kidney failure
@en
Dominant renin gene mutations ...... ia, and chronic kidney failure
@nl
type
label
Dominant renin gene mutations ...... ia, and chronic kidney failure
@ast
Dominant renin gene mutations ...... ia, and chronic kidney failure
@en
Dominant renin gene mutations ...... ia, and chronic kidney failure
@nl
prefLabel
Dominant renin gene mutations ...... ia, and chronic kidney failure
@ast
Dominant renin gene mutations ...... ia, and chronic kidney failure
@en
Dominant renin gene mutations ...... ia, and chronic kidney failure
@nl
P2093
P2860
P50
P1476
Dominant renin gene mutations ...... ia, and chronic kidney failure
@en
P2093
Anthony J Bleyer
Audrey Pawtowski
Evelyne Lerut
Hana Blazková
Jana Sovová
Jean-Marie Gasc
Jean-Pierre Fryns
Jeremy N Adams
Katerina Hodanová
P2860
P304
P356
10.1016/J.AJHG.2009.07.010
P407
P577
2009-08-06T00:00:00Z