(Q24300384)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

Nephronophthisis 1 (juvenile) homolog (human)

1 reference

Kinesin family member 3A

1 reference

Uromodulin

1 reference

author

Luca Rampoldi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Massimo Attanasio

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

John A. Sayer

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Frank Zaucke

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Joana M Boehnlein

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Sarah Steffens

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Roman S Polishchuk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Andreas Fischer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Andreas Pasch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Christoph W A Boehm

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Anne Baasner

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Bernd Hoppe

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Helmut Hopfer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Bodo B Beck

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Matthias T F Wolf

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Friedhelm Hildebrandt

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

18 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

1985-1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Molecular genetics of nephronophthisis and medullary cystic kidney disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Tamm Horsfall protein binds to a single class of carbohydrate specific receptors on human neutrophils

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Tamm-Horsfall glycoprotein binds IgG with high affinity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Multiple loci associated with indices of renal function and chronic kidney disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Nephronophthisis-associated ciliopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Polyductin undergoes notch-like processing and regulated release from primary cilia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Bardet-Biedl syndrome: beyond the cilium.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Defective intracellular trafficking of uromodulin mutant isoforms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Tamm-Horsfall glycoprotein links innate immune cell activation with adaptive immunity via a Toll-like receptor-4-dependent mechanism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

A transcriptional network in polycystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Mechanism of constitutive export from the golgi: bulk flow via the formation, protrusion, and en bloc cleavage of large trans-golgi network tubular domains.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Abnormal serum uric acid levels in children

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Evidence that recombinant IL 1 alpha exhibits lectin-like specificity and binds to homogeneous uromodulin via N-linked oligosaccharides

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

The lectin-like interaction between recombinant tumor necrosis factor and uromodulin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Mechanoelectrical transduction, ion movement and water stasis in uromodulin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Tamm-Horsfall protein inhibits binding of S- and P-fimbriated Escherichia coli to human renal tubular epithelial cells.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

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/10.1093%2FHMG%2FDDQ077

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

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/10.1093%2FHMG%2FDDQ077

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

Intact protein core structure is essential for protein-binding, mononuclear cell proliferating, and neutrophil phagocytosis-enhancing activities of normal human urinary Tamm-Horsfall glycoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

Defective planar cell polarity in polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ077

Decreased renal expression of the putative calcium oxalate inhibitor Tamm-Horsfall protein in the ethylene glycol rat model of calcium oxalate urolithiasis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860893

Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice

29 November 2018

1 reference

12 December 2020

Effects of Tamm-Horsfall protein on polymorphonuclear leukocyte function

1 reference

12 December 2020

The nephronophthisis complex. A clinicopathologic study in children

1 reference

12 December 2020

Tamm-Horsfall glycoprotein (THG) purified from normal human pregnancy urine increases phagocytosis, complement receptor expressions and arachidonic acid metabolism of polymorphonuclear neutrophils

1 reference

12 December 2020

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ077

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20172860%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

20172860

1 reference