Childhood course of renal insufficiency in a family with a uromodulin gene mutation (Q34687442)

3 August 2017

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

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3 August 2017

Péter Schäffer

1

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3 August 2017

Eva Gombos

2

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3 August 2017

Krisztina Meichelbeck

3

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3 August 2017

András Kiss

4

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3 August 2017

P Suzanne Hart

5

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3 August 2017

Anthony J Bleyer

6

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3 August 2017

12 February 2010

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3 August 2017

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3 August 2017

25

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3 August 2017

7

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3 August 2017

1355-1360

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https://scigraph.springernature.com/pub.10.1007/s00467-009-1436-y

3 August 2017

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cites work

Multiple loci associated with indices of renal function and chronic kidney disease

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Tamm-horsfall protein protects against urinary tract infection by proteus mirabilis

7 July 2018

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Angiotensin converting enzyme insertion/deletion polymorphism and renoprotection in diabetic and nondiabetic nephropathies

7 July 2018

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Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

Uromodulin storage diseases: clinical aspects and mechanisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

Tamm-Horsfall glycoprotein: biology and clinical relevance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

New insights: nephronophthisis-medullary cystic kidney disease

7 July 2018

1 reference

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Intracellular transport, cell-surface exposure and release of recombinant Tamm-Horsfall glycoprotein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

Tamm-Horsfall glycoprotein and calcium nephrolithiasis.

7 July 2018

1 reference

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Renal medullary cystic disease or familial juvenile nephronophthisis: a renal tubular disease. Biochemical findings in two siblings

7 July 2018

1 reference

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Tamm-Horsfall glycoprotein: ultrastructural immunoperoxidase localization in rat kidney

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-009-1436-Y

Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease

21 January 2018

1 reference

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https://api.crossref.org/works/10.1007%2FS00467-009-1436-Y

Familial juvenile hyperuricaemic nephropathy

21 January 2018

1 reference

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

The Effects of Dietary Protein Restriction and Blood-Pressure Control on the Progression of Chronic Renal Disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264542

Granulomatous interstitial nephritis secondary to allopurinol treatment

9 December 2018

1 reference

12 December 2020

Dietary factors associated with hyperuricemia in adults

1 reference

12 December 2020

A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease

1 reference

12 December 2020

Glomerulocystic kidney disease in a family

1 reference

12 December 2020

Does allopurinol affect the progression of familial juvenile gouty nephropathy?

1 reference

12 December 2020

10.1007/S00467-009-1436-Y

Identifiers

DOI

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3 August 2017

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3 August 2017

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