Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. (Q53060558)

11 May 2018

title

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. (English)

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11 May 2018

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3

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André Reis

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Corinne Antignac

object named as

Corinne Antignac

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Arif B. Ekici

1

object named as

Arif B Ekici

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Kai-Uwe Eckardt

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author name string

Thomas Hackenbeck

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Andrea Pannes

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Maike Buettner

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Steffen Uebe

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Rolf Janka

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Antje Wiesener

8

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Ingo Hermann

9

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Sina Grupp

10

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Martin Hornberger

11

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Tobias B Huber

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Nikky Isbel

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George Mangos

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Stella McGinn

15

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Daniela Soreth-Rieke

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Bodo B Beck

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Michael Uder

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Kerstin Amann

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Michael S Wiesener

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language of work or name

English

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publication date

26 March 2014

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published in

Kidney International

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volume

86

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issue

3

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page(s)

589-599

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Age and association of kidney measures with mortality and end-stage renal disease

cites work

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Significance of tubulointerstitial changes in the renal cortex for the excretory function and concentration ability of the kidney: a morphometric contribution

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Cellular and molecular mechanisms of renal fibrosis

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Improving the recognition of hereditary interstitial kidney disease

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

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Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

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A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

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Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

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Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

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Hereditary Interstitial Kidney Disease

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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

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A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21.

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Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21

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Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

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Clinical and genetic characterization of an autosomal dominant nephropathy

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Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

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Structure and function of the cell surface (tethered) mucins

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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

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Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

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Population-based screening for family history of end-stage renal disease among incident dialysis patients

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Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study

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Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

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Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

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Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

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Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

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7 January 2021

Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing

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MutationTaster evaluates disease-causing potential of sequence alterations

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A method and server for predicting damaging missense mutations

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Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families

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7 January 2021

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin

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7 January 2021

Identifiers

DOI

10.1038/KI.2014.72

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11 May 2018

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11 May 2018