(Q54560750)

31 May 2018

title

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

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31 May 2018

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11

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31 May 2018

author name string

Wolf MT

1

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31 May 2018

Beck BB

2

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31 May 2018

Zaucke F

3

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31 May 2018

Kunze A

4

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31 May 2018

Misselwitz J

5

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31 May 2018

Ruley J

6

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31 May 2018

Ronda T

7

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31 May 2018

Fischer A

8

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31 May 2018

Eifinger F

9

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31 May 2018

Licht C

10

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31 May 2018

Hoppe B

12

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31 May 2018

Hildebrandt F

13

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31 May 2018

language of work or name

English

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publication date

24 January 2007

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31 May 2018

published in

Kidney International

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31 May 2018

volume

71

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31 May 2018

issue

6

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31 May 2018

page(s)

574-581

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31 May 2018

Evolution of Clinical Signs in Adult-Onset Cystic Disease of the Renal Medulla

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7 January 2021

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

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7 January 2021

The nephronophthisis complex. A clinicopathologic study in children

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

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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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

The ZP domain is a conserved module for polymerization of extracellular proteins

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Binding of Tamm-Horsfall protein to complement 1q and complement 1, including influence of hydrogen-ion concentration

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Mapping the binding domain of immunoglobulin light chains for Tamm-Horsfall protein

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Is salt-wasting the long awaited answer to the hyperuricaemia seen in uromodulin storage diseases?

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Hereditary hyperuricemia and renal disease

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Clinico-pathologic findings in medullary cystic kidney disease type 2.

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Tamm-Horsfall protein knockout mice do not develop medullary cystic kidney disease

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Abnormal serum uric acid levels in children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002089

7 January 2021

Identifiers

DOI

10.1038/SJ.KI.5002089

1 reference

31 May 2018

Dimensions Publication ID

1023893428

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1 reference

31 May 2018