(Q24803095)

ORCID Public Data File 2021

author name string

Augusta Gaspar

series ordinal

2

0 references

Carla Clemente

series ordinal

3

0 references

José Rueff

series ordinal

4

0 references

language of work or name

English

0 references

publication date

27 January 2005

0 references

published in

BMC Medical Genetics

0 references

volume

6

0 references

issue

1

0 references

page(s)

5

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1471-2350-6-5

0 references

cites work

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

Molecular genetics of nephronophthisis and medullary cystic kidney disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548506

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-5

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-5

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15673476

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15673476