HNF1B mutations associate with hypomagnesemia and renal magnesium wasting (Q34658412)

3 August 2017

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting (English)

1 reference

3 August 2017

0 references

David A Long

6

0 references

Rukshana Shroff

Rukshana Shroff

20

0 references

Adrian S. Woolf

Adrian S Woolf

2

0 references

Sian Ellard

Sian Ellard

23

0 references

Lesley Rees

9

Lesley Rees

1 reference

3 August 2017

Shazia Adalat

1

1 reference

3 August 2017

Karen A Johnstone

3

1 reference

3 August 2017

Andrea Wirsing

4

1 reference

3 August 2017

Lorna W Harries

5

1 reference

3 August 2017

Raoul C Hennekam

7

1 reference

3 August 2017

Sarah E Ledermann

8

1 reference

3 August 2017

William van't Hoff

10

1 reference

3 August 2017

Stephen D Marks

11

1 reference

3 August 2017

Richard S Trompeter

12

1 reference

3 August 2017

Kjell Tullus

13

1 reference

3 August 2017

Paul J Winyard

14

1 reference

3 August 2017

Janette Cansick

15

1 reference

3 August 2017

Imran Mushtaq

16

1 reference

3 August 2017

Harjeeta K Dhillon

17

1 reference

3 August 2017

Coralie Bingham

18

1 reference

3 August 2017

Emma L Edghill

19

1 reference

3 August 2017

Horia Stanescu

21

1 reference

3 August 2017

Gerhart U Ryffel

22

1 reference

3 August 2017

Detlef Bockenhauer

24

1 reference

3 August 2017

23 April 2009

1 reference

Journal of the American Society of Nephrology

3 August 2017

1 reference

3 August 2017

20

1 reference

3 August 2017

1123-1131

1 reference

3 August 2017

5

1 reference

HNF-1beta regulates transcription of the PKD modifier gene Kif12

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Hereditary etiologies of hypomagnesemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Physiology of epithelial Ca2+ and Mg2+ transport.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Microarray interrogation of human metanephric mesenchymal cells highlights potentially important molecules in vivo.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Effects of Dicer and Argonaute down-regulation on mRNA levels in human HEK293 cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Unilateral renal agenesis and the congenital solitary functioning kidney: developmental, genetic and clinical perspectives

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Regulation of the expression of human organic anion transporter 3 by hepatocyte nuclear factor 1alpha/beta and DNA methylation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

FXYD proteins: new regulators of Na-K-ATPase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4alpha and HNF1beta in a pancreatic beta-cell line

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

A transcriptional network in polycystic kidney disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Insights into the molecular nature of magnesium homeostasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Isoform specificity of human Na(+), K(+)-ATPase localization and aldosterone regulation in mouse kidney cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Distribution and oligomeric association of splice forms of Na(+)-K(+)-ATPase regulatory gamma-subunit in rat kidney

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Magnesium transport in the renal distal convoluted tubule

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

A variant nuclear protein in dedifferentiated hepatoma cells binds to the same functional sequences in the beta fibrinogen gene promoter as HNF-1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

HNF-1, a member of a novel class of dimerizing homeodomain proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Hepatocyte nuclear factor 1 and C/EBP are essential for the activity of the human apolipoprotein B gene second-intron enhancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

HNF1, a homeoprotein member of the hepatic transcription regulatory network

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Mechanism of calcium transport stimulated by chlorothiazide in mouse distal convoluted tubule cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Defective planar cell polarity in polycystic kidney disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

Regulation of kidney-specific Ksp-cadherin gene promoter by hepatocyte nuclear factor-1beta

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678044

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

9 December 2018

1 reference

12 December 2020

Fractional excretion of magnesium in normal subjects and in patients with hypomagnesemia

1 reference

12 December 2020

Bartter syndromes and other salt-losing tubulopathies

1 reference

12 December 2020

Progression of chronic renal failure in children with dysplastic kidneys

1 reference

12 December 2020

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

1 reference

12 December 2020

Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene

1 reference

12 December 2020

The biochemical diagnosis of Gitelman disease and the definition of "hypocalciuria"

1 reference

12 December 2020

The physicochemical state and renal handling of divalent ions in chronic renal failure

1 reference

12 December 2020

Sonographic measurements and appearance of normal kidneys in children

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2008060633

1 reference

3 August 2017

1 reference

3 August 2017

1 reference