(Q57667500)

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Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

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14 January 2020

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21 (English)

1 reference

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14 January 2020

1 reference

based on heuristic

inferred from title

gouty nephropathy

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based on heuristic

inferred from title

1

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14 January 2020

Matthew A. Brown

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author name string

Patrick Danoy

2

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14 January 2020

Karin Dahan

3

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14 January 2020

Karena Pryce

5

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14 January 2020

William Wong

6

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14 January 2020

Thomas Müller

9

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14 January 2020

Karl Lhotta

11

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14 January 2020

Olivier Devuyst

12

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14 January 2020

Anita A C Reed

4

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14 January 2020

Rosa J Torres

7

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14 January 2020

Juan G Puig

8

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14 January 2020

publication date

26 October 2010

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14 January 2020

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14 January 2020

129

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51-58

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14 January 2020

1

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14 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-010-0897-1

0 references

Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

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/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

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/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal serum uric acid levels in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A transcriptional network in polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

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/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-010-0897-1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20976470%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20976470%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

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