(Q34686778)

3 August 2017

title

Hereditary interstitial kidney disease (English)

1 reference

3 August 2017

Hereditary Interstitial Kidney Disease (English)

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.SEMNEPHROL.2010.06.003

4 July 2024

1 reference

Stanislav Kmoch

3

1 reference

3 August 2017

Anthony J. Bleyer

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807609

4 July 2024

P. Suzanne Hart

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807609

4 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20807609

4 July 2024

publication date

1 July 2010

1 reference

full work available at URL

3 August 2017

https://europepmc.org/articles/pmc4264385?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807609

https://europepmc.org/articles/PMC4264385

4 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807609

https://europepmc.org/articles/PMC4264385?pdf=render

4 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807609

https://doi.org/10.1016/j.semnephrol.2010.06.003

4 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807609

https://api.elsevier.com/content/article/PII:S0270929510000951?httpAccept=text/xml

4 July 2024

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.SEMNEPHROL.2010.06.003

https://api.elsevier.com/content/article/PII:S0270929510000951?httpAccept=text/plain

4 July 2024

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.SEMNEPHROL.2010.06.003

4 July 2024

published in

Seminars in Nephrology

1 reference

3 August 2017

volume

30

1 reference

3 August 2017

issue

4

1 reference

3 August 2017

page(s)

366-373

1 reference

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

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264385

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264385

Uricosuric action of losartan via the inhibition of urate transporter 1 (URAT 1) in hypertensive patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264385

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on 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=4264385

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=4264385

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=4264385

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=4264385

New insights: nephronophthisis-medullary 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=4264385

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=4264385

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=4264385

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264385

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=4264385

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264385

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=4264385

Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264385

Intrinsic Renal Disease Leading to Abnormal Urate Excretion

26 October 2018

1 reference

12 December 2020

Does allopurinol affect the progression of familial juvenile gouty nephropathy?

1 reference

12 December 2020

Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN). A six-year update

1 reference

12 December 2020

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

1 reference

12 December 2020

Late occurrence of cysts in autosomal dominant medullary cystic kidney disease

1 reference

12 December 2020

Identifiers

1 reference

3 August 2017

1 reference

3 August 2017

1 reference