Autosomal dominant tubulointerstitial kidney disease: of names and genes (Q85208470)

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15 February 2020

title

Autosomal dominant tubulointerstitial kidney disease: of names and genes (English)

1 reference

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15 February 2020

author name string

Anthony J Bleyer

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25168494 AND SRC:MED&resulttype=core&format=json

15 February 2020

Stanislav Kmoch

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25168494 AND SRC:MED&resulttype=core&format=json

15 February 2020

language of work or name

English

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publication date

1 September 2014

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25168494 AND SRC:MED&resulttype=core&format=json

15 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25168494 AND SRC:MED&resulttype=core&format=json

15 February 2020

volume

86

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15 February 2020

issue

3

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15 February 2020

page(s)

459-461

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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

15 February 2020

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

Late occurrence of cysts in autosomal dominant medullary cystic kidney disease

1 reference

7 January 2021

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

1 reference

7 January 2021

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

1 reference

7 January 2021

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

1 reference

7 January 2021

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

1 reference

7 January 2021

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

1 reference

7 January 2021

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

1 reference

7 January 2021

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

1 reference

7 January 2021