(Q38342427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

2

1 reference

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27 December 2019

author name string

L W Harries

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

R W A Jones

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

A T Hattersley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Bingham

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

publication date

15 April 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

issue

5

1 reference

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27 December 2019

page(s)

937-942

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

27 December 2019

cites work

1 reference

12 December 2020

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonsense-mediated mRNA decay in health and disease

1 reference

12 December 2020

Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction

1 reference

12 December 2020

Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development

1 reference

12 December 2020

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

12 December 2020

De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease

1 reference

12 December 2020

Liver and kidney function in Japanese patients with maturity-onset diabetes of the young

1 reference

12 December 2020

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young

1 reference

12 December 2020

Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization

1 reference

12 December 2020

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

1 reference

12 December 2020

Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.

1 reference

12 December 2020

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

1 reference

12 December 2020

More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing

1 reference

12 December 2020

Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese

1 reference

12 December 2020

Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement

1 reference

12 December 2020

A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes

1 reference

12 December 2020

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

12 December 2020

10.1007/S00125-004-1383-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15085338%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

27 December 2019

1046963609

0 references

1 reference