(Q35985778)

11 August 2017

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations (English)

1 reference

11 August 2017

1 reference

8

Olivier Devuyst

0 references

Vincent Morinière

Vincent Morinière

4

0 references

Laurence Heidet

Laurence Heidet

6

0 references

Corinne Antignac

Corinne Antignac

10

0 references

Didier Lacombe

Didier Lacombe

7

0 references

author name string

Guillaume Bollée

1

1 reference

11 August 2017

Karin Dahan

2

1 reference

11 August 2017

Martin Flamant

3

1 reference

11 August 2017

Audrey Pawtowski

5

1 reference

11 August 2017

Yves Pirson

9

1 reference

11 August 2017

Bertrand Knebelmann

11

1 reference

11 August 2017

25 August 2011

1 reference

Clinical Journal of the American Society of Nephrology

11 August 2017

1 reference

11 August 2017

6

1 reference

11 August 2017

10

1 reference

11 August 2017

2429-2438

1 reference

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Childhood course of renal insufficiency in a family with a uromodulin gene mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Uromodulin storage diseases: clinical aspects and mechanisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Tamm-Horsfall glycoprotein: biology and clinical relevance

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Precocious familial gout with reduced fractional urate clearance and normal purine enzymes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Predictive performance of the modification of diet in renal disease and Cockcroft-Gault equations for estimating renal function.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Renal underexcretion of uric acid is present in patients with apparent high urinary uric acid output

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359549

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

24 September 2018

1 reference

12 December 2020

Medullary cystic kidney disease type 1 in a large Native-American kindred

1 reference

12 December 2020

Uric Acid in Advanced Renal Failure

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of chronic kidney disease in patients with or at increased risk of cardiovascular disease: a science advisory from the American Heart Association Kidney And Cardiovascular Disease Council; the Councils on High Blood Pressure Research, Card

1 reference

12 December 2020

Analysis of excretion fraction of uric acid

1 reference

12 December 2020

Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5

1 reference

12 December 2020

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.01220211

1 reference

11 August 2017

1 reference

11 August 2017

1 reference