(Q37272346)

English

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

scientific article published on 22 May 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

endoplasmic reticulum

0 references

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

familial juvenile gout

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based on heuristic

inferred from title

12

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Europe PubMed Central

PMC publication ID

19 August 2017

13

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Europe PubMed Central

PMC publication ID

19 August 2017

Vincent Morinière

object named as

Vincent Morinière

9

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object named as

Fiona E Karet

6

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Corinne Antignac

object named as

Corinne Antignac

4

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object named as

Peter Kotanko

7

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Timothy H J Goodship

5

object named as

Tim Goodship

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

author name string

Siân E Williams

1

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Europe PubMed Central

PMC publication ID

19 August 2017

Anita A C Reed

2

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Europe PubMed Central

PMC publication ID

19 August 2017

Juris Galvanovskis

3

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Europe PubMed Central

PMC publication ID

19 August 2017

Karl Lhotta

8

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Europe PubMed Central

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19 August 2017

Paul Williams

10

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Europe PubMed Central

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19 August 2017

William Wong

11

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Europe PubMed Central

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19 August 2017

language of work or name

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based on heuristic

inferred from title

publication date

22 May 2009

1 reference

Europe PubMed Central

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19 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

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19 August 2017

18

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19 August 2017

16

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19 August 2017

2963-2974

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Cytosol to lysosome transport of intracellular antigens during immune surveillance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

ERAD: the long road to destruction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Characterization and separation of an inhibitor of viral hemagglutination present in urine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Tamm-Horsfall glycoprotein: biology and clinical relevance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

At the acidic edge: emerging functions for lysosomal membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Mechanism of release of urinary Tamm-Horsfall glycoprotein from the kidney GPI-anchored counterpart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Glycosylation sites and site-specific glycosylation in human Tamm-Horsfall glycoprotein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Nucleotide sequence and peptide motifs of mouse uromodulin (Tamm-Horsfall protein)--the most abundant protein in mammalian urine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Tamm-Horsfall protein--uromodulin (1950-1990).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

6 September 2017

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

14 September 2017

Differential effects of endoplasmic reticulum stress-induced autophagy on cell survival.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

14 September 2017

Defective intracellular trafficking of uromodulin mutant isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

14 September 2017

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

28 September 2017

Abnormal serum uric acid levels in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

3 September 2018

Gout, familial hypericaemia, and renal disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714724

20 October 2018

Immature Renal Structures Associated With a Novel UMOD Sequence Variant

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP235

21 January 2018

Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/19465746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and oligosaccharide processing of human Tamm-Horsfall glycoprotein permanently expressed in HeLa cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/19465746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11

1 reference

https://pubmed.ncbi.nlm.nih.gov/19465746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/19465746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase

1 reference

https://pubmed.ncbi.nlm.nih.gov/19465746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/19465746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19465746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDP235

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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1 reference

https://api.fatcat.wiki/v0/release/fjxcfzqrcncqbfqtbhzhkzktwm

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

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