HNF1B-associated clinical phenotypes: the kidney and beyond (Q38544627)

4 September 2017

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title

HNF1B-associated clinical phenotypes: the kidney and beyond (English)

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4 September 2017

Detlef Bockenhauer

1

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4 September 2017

Graciana Jaureguiberry

series ordinal

2

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4 September 2017

language of work or name

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8 July 2015

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4 September 2017

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4 September 2017

31

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4 September 2017

707-714

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4 September 2017

5

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https://scigraph.springernature.com/pub.10.1007/s00467-015-3142-2

4 September 2017

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cites work

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Structural Basis of Disease-Causing Mutations in Hepatocyte Nuclear Factor 1β † , ‡

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Hnf1beta and nephron segmentation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

A transcriptional network in polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Hepatocyte nuclear factor 1β controls nephron tubular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Renal malformations associated with mutations of developmental genes: messages from the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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/10.1007%2FS00467-015-3142-2

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Lack of TCF2/vHNF1 in mice leads to pancreas agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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/10.1007%2FS00467-015-3142-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Childhood onset diabetes posttransplant in a girl with TCF2 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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/10.1007%2FS00467-015-3142-2

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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/10.1007%2FS00467-015-3142-2

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/10.1007%2FS00467-015-3142-2

Disorders of calcium and magnesium balance: a physiology-based approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-015-3142-2

Transcriptional activators in hepatocytes

21 January 2018

1 reference

12 December 2020

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

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

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.

1 reference

12 December 2020

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

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12 December 2020

Lack of pancreatic body and tail in HNF1B mutation carriers

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12 December 2020

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

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12 December 2020

Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification

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12 December 2020

Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation

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12 December 2020

10.1007/S00467-015-3142-2

Identifiers

DOI

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Dimensions Publication ID

4 September 2017

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