Neonatal diabetes mellitus

L Aguilar-Bryan, J Bryan - Endocrine reviews, 2008 - academic.oup.com
An explosion of work over the last decade has produced insight into the multiple hereditary
causes of a nonimmunological form of diabetes diagnosed most frequently within the first 6 …

New insights into the role of HNF-1β in kidney (patho) physiology

S Ferrè, P Igarashi - Pediatric Nephrology, 2019 - Springer
Hepatocyte nuclear factor-1β (HNF-1β) is an essential transcription factor that regulates the
development and function of epithelia in the kidney, liver, pancreas, and genitourinary tract …

Obesity-induced overexpression of miR-802 impairs glucose metabolism through silencing of Hnf1b

JW Kornfeld, C Baitzel, AC Könner, HT Nicholls… - Nature, 2013 - nature.com
Insulin resistance represents a hallmark during the development of type 2 diabetes mellitus
and in the pathogenesis of obesity-associated disturbances of glucose and lipid …

IL6-STAT3-HIF signaling and therapeutic response to the angiogenesis inhibitor sunitinib in ovarian clear cell cancer

MS Anglesio, J George, H Kulbe, M Friedlander… - Clinical cancer …, 2011 - AACR
Purpose: Ovarian clear cell adenocarcinoma (OCCA) is an uncommon histotype that is
generally refractory to platinum-based chemotherapy. We analyze here the most …

Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory …

X Song, V Di Giovanni, N He, K Wang… - Human molecular …, 2009 - academic.oup.com
To elucidate the molecular pathways that modulate renal cyst growth in ADPKD, we
performed global gene profiling on cysts of different size (< 1 ml, n= 5; 10–20 ml, n= 5;> 50 …

miR-17∼ 92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease

V Patel, D Williams, S Hajarnis… - Proceedings of the …, 2013 - National Acad Sciences
Polycystic kidney disease (PKD), the most common genetic cause of chronic kidney failure,
is characterized by the presence of numerous, progressively enlarging fluid-filled cysts in the …

Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases

YH Choi, A Suzuki, S Hajarnis, Z Ma… - Proceedings of the …, 2011 - National Acad Sciences
Polycystic kidney disease (PKD) is a genetic disorder that is characterized by cyst formation
in kidney tubules. PKD arises from abnormalities of the primary cilium, a sensory organelle …

Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)

S Kohl, S Habbig, LT Weber, MC Liebau - Molecular and cellular …, 2021 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5–1/100 newborns
and as a group they represent the most frequent cause for chronic kidney failure in children …

A mitotic transcriptional switch in polycystic kidney disease

F Verdeguer, S Le Corre, E Fischer, C Callens… - Nature medicine, 2010 - nature.com
Hepatocyte nuclear factor-1β (HNF-1β) is a transcription factor required for the expression of
several renal cystic genes and whose prenatal deletion leads to polycystic kidney disease …

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

JF O'Toole, Y Liu, EE Davis… - The Journal of …, 2010 - Am Soc Clin Investig
The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most
frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative …