(Q38299096)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

review article

1 reference

title

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author

Andrew Tym Hattersley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Alexander Hamilton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Sian Ellard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Rhian L Clissold

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Coralie Bingham

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

language of work or name

English

0 references

publication date

23 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

Nature Reviews Nephrology

26 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

102-112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/nrneph.2014.232

26 February 2020

exact match

0 references

cites work

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

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HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

21 January 2018

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Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

21 January 2018

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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations

21 January 2018

1 reference

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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

21 January 2018

1 reference

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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

21 January 2018

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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

21 January 2018

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

21 January 2018

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

21 January 2018

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Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

21 January 2018

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Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

21 January 2018

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HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.

21 January 2018

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Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young

21 January 2018

1 reference

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Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Advances in early kidney specification, development and patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

The cellular basis of kidney development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system

21 January 2018

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A transcriptional network in polycystic kidney disease

21 January 2018

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Hepatocyte nuclear factor 1β controls nephron tubular development

21 January 2018

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Notch2, but not Notch1, is required for proximal fate acquisition in the mammalian nephron.

21 January 2018

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HNF1B deletions in patients with young-onset diabetes but no known renal disease.

21 January 2018

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Renal cystic diseases in children: new concepts

21 January 2018

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Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Genetic basis of prune belly syndrome: screening for HNF1β gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

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

21 January 2018

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Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers

21 January 2018

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

21 January 2018

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Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

21 January 2018

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Expression profiling in ovarian clear cell carcinoma: identification of hepatocyte nuclear factor-1 beta as a molecular marker and a possible molecular target for therapy of ovarian clear cell carcinoma

21 January 2018

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Genome-wide association study identifies a common variant associated with risk of endometrial cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

21 January 2018

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Multiple loci identified in a genome-wide association study of prostate cancer

21 January 2018

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Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12

21 January 2018

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HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase

21 January 2018

1 reference

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Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

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

21 January 2018

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21 January 2018

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Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.

21 January 2018

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Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas

21 January 2018

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Lack of TCF2/vHNF1 in mice leads to pancreas agenesis

21 January 2018

1 reference

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Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

The HNF1B score is a simple tool to select patients for HNF1B gene analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Renal tract malformations: perspectives for nephrologists

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Ultrasound mass screening for congenital anomalies of the kidney and urinary tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

HNF1B deficiency causes ciliary defects in human cholangiocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Lack of pancreatic body and tail in HNF1B mutation carriers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Expression of renal cystic genes in patients with HNF1B mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Mutations in the hepatocyte nuclear factor-1beta (MODY5) gene are not a major factor contributing to end-stage renal disease in Japanese people with diabetes mellitus

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2014.232

Expression patterns of vHNF1 and HNF1 homeoproteins in early postimplantation embryos suggest distinct and sequential developmental roles

31 March 2020

1 reference

12 December 2020

Mild familial diabetes with dominant inheritance

1 reference

12 December 2020

Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.

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

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

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

Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.

1 reference

12 December 2020

Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEPH.2014.232

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25536396%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference