The molecular functions of hepatocyte nuclear factors–In and beyond the liver

HH Lau, NHJ Ng, LSW Loo, JB Jasmen, AKK Teo - Journal of hepatology, 2018 - Elsevier
The hepatocyte nuclear factors (HNFs) namely HNF1α/β, FOXA1/2/3, HNF4α/γ and
ONECUT1/2 are expressed in a variety of tissues and organs, including the liver, pancreas …

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

RL Clissold, AJ Hamilton, AT Hattersley… - Nature Reviews …, 2015 - nature.com
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear
factor 1β (HNF1B) represent the most common known monogenic cause of developmental …

Maturity onset diabetes of the young: identification and diagnosis

TJ McDonald, S Ellard - Annals of clinical biochemistry, 2013 - journals.sagepub.com
Maturity-onset diabetes of the young (MODY) is a monogenic disorder that results in a
familial, young-onset non-insulin dependent form of diabetes, typically presenting in lean …

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

S Adalat, AS Woolf, KA Johnstone… - Journal of the …, 2009 - journals.lww.com
Mutations in hepatocyte nuclear factor 1B (HNF1B), which is a transcription factor expressed
in tissues including renal epithelia, associate with abnormal renal development. While …

Diabetes, associated clinical spectrum, long-term prognosis, and genotype/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) …

D Dubois-Laforgue, E Cornu, C Saint-Martin… - Diabetes …, 2017 - Am Diabetes Assoc
OBJECTIVE Molecular defects of hepatocyte nuclear factor 1B (HNF1B) are associated with
a multiorgan disease, including diabetes (maturity-onset diabetes of the young 5) and …

[HTML][HTML] Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

S Faguer, S Decramer, N Chassaing… - Kidney international, 2011 - Elsevier
Mutations in HNF1B are responsible for a dominantly inherited disease with renal and
nonrenal consequences, including maturity-onset diabetes of the young (MODY) type 5 …

HNF1B-associated clinical phenotypes: the kidney and beyond

D Bockenhauer, G Jaureguiberry - Pediatric nephrology, 2016 - Springer
Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most
commonly identified genetic cause of renal malformations. HNF1B was first identified as a …

[HTML][HTML] Genetic evaluation of living kidney donor candidates: a review and recommendations for best practices

CP Thomas, R Daloul, KL Lentine, R Gohh… - American Journal of …, 2023 - Elsevier
The growing accessibility and falling costs of genetic sequencing techniques has expanded
the utilization of genetic testing in clinical practice. For living kidney donation, genetic …

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

S Faguer, N Chassaing, F Bandin, C Prouheze… - Kidney international, 2014 - Elsevier
HNF1B-related disease is an emerging condition characterized by an autosomal-dominant
inheritance, a 50% rate of de novo mutations, and a highly variable phenotype (renal …

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

R Thomas, S Sanna-Cherchi, BA Warady, SL Furth… - Pediatric …, 2011 - Springer
Malformations of the kidney and lower urinary tract are the most frequent cause of end-stage
renal disease in children. Mutations in HNF1Β and PAX2 commonly cause syndromic …