Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease (Q24535574)

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2 November 2019

case report

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title

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease (English)

1 reference

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Glomerulocystic kidney disease

2 November 2019

main subject

1 reference

3

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2 November 2019

Adrian S. Woolf

7

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2 November 2019

Giuseppe Novelli

9

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2 November 2019

author name string

Bingham C

1

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2 November 2019

Bulman MP

2

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2 November 2019

Allen LI

4

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2 November 2019

Lipkin GW

5

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2 November 2019

Hoff WG

6

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2 November 2019

Rizzoni G

8

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2 November 2019

Nicholls AJ

10

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2 November 2019

Hattersley AT

11

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2 November 2019

language of work or name

English

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publication date

20 November 2000

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American Journal of Human Genetics

2 November 2019

published in

1 reference

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2 November 2019

volume

68

1 reference

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2 November 2019

issue

1

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2 November 2019

page(s)

219-224

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Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneys

27 September 2017

1 reference

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Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity

27 September 2017

1 reference

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Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Glomerulocystic kidney disease--nosological considerations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Cortical microcystic disease of the kidney with dominant inheritance: a previously undescribed syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Frameshift Mutation, A263fsinsGG, in the Hepatocyte Nuclear Factor-1β Gene Associated With Diabetes and Renal Dysfunction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Familial hypoplastic glomerulocystic kidney. A new entity?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234916

Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both

29 November 2018

1 reference

12 December 2020

LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development

1 reference

12 December 2020

Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance

1 reference

12 December 2020

Mutations in the Hepatocyte Nuclear Factor-1 Gene Are a Common Cause of Maturity-Onset Diabetes of the Young in the U.K

1 reference

12 December 2020

Identifiers

DOI

10.1086/316945

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11085914%20AND%20SRC:MED&resulttype=core&format=json

release_5x74wbgdlfe4dpb2lw2wncjkri

2 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5x74wbgdlfe4dpb2lw2wncjkri

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11085914%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

11085914

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11085914%20AND%20SRC:MED&resulttype=core&format=json