(Q48456965)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16883323%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome (English)

1 reference

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28 December 2019

7

1 reference

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28 December 2019

Helena Hůlková

8

1 reference

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28 December 2019

Kateřina Hodaňová

4

1 reference

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28 December 2019

Veronika Barešová

5

1 reference

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28 December 2019

Blanka Stibůrková

6

1 reference

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28 December 2019

Jan Živný

9

1 reference

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28 December 2019

author name string

Vylet'al P

1

1 reference

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28 December 2019

Kublová M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16883323%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Kalbácová M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16883323%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Majewski J

10

1 reference

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28 December 2019

Simmonds A

11

1 reference

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28 December 2019

Fryns JP

12

1 reference

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28 December 2019

Venkat-Raman G

13

1 reference

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28 December 2019

Elleder M

14

1 reference

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28 December 2019

Kmoch S

15

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28 December 2019

language of work or name

English

0 references

publication date

2 August 2006

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28 December 2019

1 reference

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28 December 2019

volume

70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16883323%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

6

1 reference

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28 December 2019

page(s)

1155-1169

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ki.5001728

28 December 2019

exact match

0 references

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Gout, uric acid and purine metabolism in paediatric nephrology

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7 January 2021

Hereditary Occurrence of Cystic Disease of the Renal Medulla

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7 January 2021

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

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7 January 2021

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

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7 January 2021

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

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7 January 2021

Familial juvenile gouty nephropathy: exclusion of 16p12 from the candidate locus

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7 January 2021

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

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7 January 2021

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21

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7 January 2021

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

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7 January 2021

Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

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7 January 2021

Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing

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7 January 2021

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

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7 January 2021

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

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7 January 2021

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

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7 January 2021

Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease

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7 January 2021

Glycosylation sites and site-specific glycosylation in human Tamm-Horsfall glycoprotein

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7 January 2021

Pregnancy-associated changes in the glycosylation of tamm-horsfall glycoprotein. Expression of sialyl Lewis(x) sequences on core 2 type O-glycans derived from uromodulin.

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7 January 2021

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

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7 January 2021

Clinical evidence for the influence of uric acid on hypertension, cardiovascular disease, and kidney disease: a statistical modeling perspective

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7 January 2021

Renal epithelial traffic jams and one-way streets

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7 January 2021

The ZP domain is a conserved module for polymerization of extracellular proteins

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Tamm-Horsfall protein or uromodulin: new ideas about an old molecule

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7 January 2021

Tamm-Horsfall glycoprotein: biology and clinical relevance

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7 January 2021

A transcriptional network in polycystic kidney disease

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7 January 2021

Selectively reduced expression of thick ascending limb Tamm-Horsfall protein in hypothyroid kidneys

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7 January 2021

Tamm-Horsfall protein in patients with kidney damage and diabetes

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7 January 2021

Uromodulin storage diseases: clinical aspects and mechanisms

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7 January 2021

A panoramic view of gene expression in the human kidney

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7 January 2021

Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice

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7 January 2021

Conditions for solubilization of Tamm-Horsfall protein/uromodulin in human urine and establishment of a sensitive and accurate enzyme-linked immunosorbent assay (ELISA) method

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7 January 2021

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

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7 January 2021

Deconvolution improves colocalization analysis of multiple fluorochromes in 3D confocal data sets more than filtering techniques

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7 January 2021