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 …
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 …
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 …
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
Purpose: Ovarian clear cell adenocarcinoma (OCCA) is an uncommon histotype that is
generally refractory to platinum-based chemotherapy. We analyze here the most …
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 …
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
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 …
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 …
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 …
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 …
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 …
frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative …