Glucagon, produced by islet α cells, functions to increase blood glucose. Abnormal glucose levels are often seen in cystic fibrosis (CF), a systematic disease caused by mutations of the CF transmembrane conductance regulator (CFTR), and in polycystic ovarian syndrome (PCOS), an endocrine disorder featured with hyperandrogenism affecting 5-10% women of reproductive age. Here, we explored the rol...

Devor, Daniel C., Robert J. Bridges, and Joseph M. Pilewski. Pharmacological modulation of ion transport across wild-type and DF508 CFTR-expressing human bronchial epithelia. Am J Physiol Cell Physiol 279: C461–C479, 2000.—Forskolin, UTP, 1-ethyl-2-benzimidazolinone (1EBIO), NS004, 8-methoxypsoralen (Methoxsalen; 8-MOP), and genistein were evaluated for their effects on ion transport across pri...

Illek, Beate, Lei Zhang, Nancy C. Lewis, Richard B. Moss, Jian-Yun Dong, and Horst Fischer. Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein. Am. J. Physiol. 277 (Cell Physiol. 46): C833–C839, 1999.—The patch-clamp technique was used to investigate the effects of the isoflavone genistein on disease-causing mutations (G551D and DF508) of the cys...

The variability at three microsatellites in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) locus has been studied for frequent mutations encountered in an isolated population of "Grande Brière", a small region located in Southern Brittany. Fluorescent multiplex PCR of these microsatellites were assayed in 16 Cystic Fibrosis (CF) families carrying 5 different mutations. The ...

Cystic fibrosis transmembrane conductance regulator (CFTR), known as an epithelial Cl− channel, is increasingly noted to be expressed in the nervous system, although whether and how it plays a role neuronal excitability unclear. Given association of CFTR with fertility, we tested here possible involvement regulating hypothalamic neuron excitability. Patch-clamp Ca2+ imaging showed that pharmaco...

OBJECTIVES Genetic mutations and polymorphisms have been correlated with chronic pancreatitis (CP). This study aims to investigate the association of genetic variants of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) genes and Cathepsin B gene polymorphisms with CP and to associate genetic backgrounds with clinical phenotypes. M...

The human embryonic stem cell line RCe009-A (RC-5) was derived from a frozen and thawed Day 2 embryo voluntarily donated as unsuitable and surplus to requirement for fertility treatment following informed consent under licence from the UK Human Fertilisation and Embryology Authority. RCe009-A carries the common DF508 mutation on the cystic fibrosis trans-membrane regulator gene associated with ...

Background: Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5,000 females. It is caused by a failure of deve...