(Q46465952)

English

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.

scientific article published on 27 July 2008

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scholarly article

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Europe PubMed Central

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11 January 2020

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18651238%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

enzyme replacement therapy

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1 reference

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inferred from title

4

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11 January 2020

5

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11 January 2020

author name string

P Vylet'al

1

1 reference

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11 January 2020

H Hůlková

2

1 reference

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11 January 2020

M Zivná

3

1 reference

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11 January 2020

M Elleder

6

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11 January 2020

S Kmoch

7

1 reference

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11 January 2020

publication date

27 July 2008

1 reference

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11 January 2020

Journal of Inherited Metabolic Disease

1 reference

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11 January 2020

31

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11 January 2020

508-517

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11 January 2020

4

1 reference

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11 January 2020

https://scigraph.springernature.com/pub.10.1007/s10545-008-0900-3

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural localization of Tamm—Horsfall protein in human kidney using immunogold electron microscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early renal changes in hemizygous and heterozygous patients with Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

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/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

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/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A MORPHOLOGICAL STUDY OF THE RENAL LESION IN ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE (FABRY'S DISEASE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the C-terminal structure of urinary Tamm-Horsfall protein reveals that the release of the glycosyl phosphatidylinositol-anchored counterpart from the kidney occurs by phenylalanine-specific proteolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathophysiology of Tamm-Horsfall protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry's disease (angiokeratoma corporis diffusum): case report on a rare disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uromodulin storage diseases: clinical aspects and mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

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/18651238

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/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Histochemical study of a lipid thesaurismosis with renal, cutaneous and neurologic involvement. Its relation to Fabry's angiokeratosis and familial renal cytodystrophy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tamm-Horsfall mucoprotein. I. Localization in the kidney.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal pathologic lesions and functional alterations in a man with Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morphology of renal tubular hyaline casts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

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/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease and nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: molecular genetics of the inherited nephropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective intracellular trafficking of uromodulin mutant isoforms

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of Tamm-Horsfall glycoprotein in the human kidney using immuno-fluorescence and immuno-electron microscopical techniques

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein composition of urinary casts from healthy subjects and patients with glomerulonephritis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Light- and electron-microscopic histochemistry of Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic value of kidney biopsy in heterozygous Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polarized expression of Tamm-Horsfall protein by renal tubular epithelial cells activates human granulocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal involvement in Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tamm-Horsfall uromucoprotein and the pathogenesis of casts, reflux nephropathy, and nephritides

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinicopathologic, enzymatic, and genetic features in a case of Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement in the treatment of Fabry's disease. Is there a point-of-no-return?

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tamm-Horsfall protein in patients with kidney damage and diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

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/18651238

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/18651238

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/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry's disease. Initial nephrogenic diabetes insipidus in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry's disease in children. An electron microscopic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monitoring changes in gene expression in renal ischemia-reperfusion in the rat.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement therapy for Fabry disease: proving the clinical benefit

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal pathology in Fabry disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crucial roles of Brn1 in distal tubule formation and function in mouse kidney

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-008-0900-3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18651238%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

release_sfgdmgov6nfyrilpdtgmcqszuy

1 reference

https://api.fatcat.wiki/v0/release/sfgdmgov6nfyrilpdtgmcqszuy

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18651238%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

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