Functional repair of a mutant chloride channel using a trans-splicing ribozyme

• Text
• PDF

Abstract

Research Article

Authors

Christopher S. Rogers, Carlos G. Vanoye, Bruce A. Sullenger, Alfred L. George Jr.

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

• Text
• PDF

Abstract

Research Article

Authors

Hiroyasu Tsukaguchi, Akulapalli Sudhakar, Tu Cam Le, Trang Nguyen, Jun Yao, Joshua A. Schwimmer, Asher D. Schachter, Esteban Poch, Patricia F. Abreu, Gerald B. Appel, Aparecido B. Pereira, Raghu Kalluri, Martin R. Pollak

The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein

• Text
• PDF

Abstract

Research Article

Authors

Loan K. Phan, Feng Lin, Charles A. LeDuc, Wendy K. Chung, Rudolph L. Leibel

Craniosynostosis in transgenic mice overexpressing Nell-1

• Text
• PDF

Abstract

Corrigendum

Authors

Xinli Zhang, Shun’ichi Kuroda, Dale Carpenter, Ichiro Nishimura, Chia Soo, Rex Moats, Keisuke Iida, Eric Wisner, Fei-Ya Hu, Steve Miao, Steve Beanes, Catherine Dang, Heleni Vastardis, Michael Longaker, Katsuyuki Tanizawa, Norihiro Kanayama, Naoaki Saito, Kang Ting

Deletion of phosphodiesterase 4D in mice shortens α₂-adrenoceptor–mediated anesthesia, a behavioral correlate of emesis

• Text
• PDF

Abstract

Research Article

Authors

Annette Robichaud, Panagiota B. Stamatiou, S.-L.Catherine Jin, Nicholas Lachance, Dwight MacDonald, France Laliberté, Susana Liu, Zheng Huang, Marco Conti, Chi-Chung Chan

Lack of prolactin receptor signaling in mice results in lactotroph proliferation and prolactinomas by dopamine-dependent and -independent mechanisms

• Text
• PDF

Abstract

Research Article

Authors

Kathryn G. Schuff, Shane T. Hentges, Michele A. Kelly, Nadine Binart, Paul A. Kelly, P. Michael Iuvone, Sylvia L. Asa, Malcolm J. Low

Synergistic enhancement of bone formation and healing by stem cell–expressed VEGF and bone morphogenetic protein-4

• Text
• PDF

Abstract

Research Article

Authors

Hairong Peng, Vonda Wright, Arvydas Usas, Brian Gearhart, Hsain-Chung Shen, James Cummins, Johnny Huard

A mouse model of human oral-esophageal cancer

• Text
• PDF

Abstract

Research Article

Authors

Oliver G. Opitz, Hideki Harada, Yasir Suliman, Ben Rhoades, Norman E. Sharpless, Ralph Kent, Levy Kopelovich, Hiroshi Nakagawa, Anil K. Rustgi

PTEN overexpression suppresses proliferation and differentiation and enhances apoptosis of the mouse mammary epithelium

• Text
• PDF

Abstract

Research Article

Authors

Joëlle Dupont, Jean Pierre Renou, Moshe Shani, Lothar Hennighausen, Derek LeRoith

Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

• Text
• PDF

Abstract

Mutations in the genes encoding hepatocyte nuclear factor 4α (HNF-4α) and HNF-1α impair insulin secretion and cause maturity onset diabetes of the young (MODY). HNF-4α is known to be an essential positive regulator of HNF-1α. More recent data demonstrates that HNF-4α expression is dependent on HNF-1α in mouse pancreatic islets and exocrine cells. This effect is mediated by binding of HNF-1α to a tissue-specific promoter (P2) located 45.6 kb upstream from the previously characterized Hnf4α promoter (P1). Here we report that the expression of HNF-4α in human islets and exocrine cells is primarily mediated by the P2 promoter. Furthermore, we describe a G → A mutation in a conserved nucleotide position of the HNF-1α binding site of the P2 promoter, which cosegregates with MODY. The mutation results in decreased affinity for HNF-1α, and consequently in reduced HNF-1α–dependent activation. These findings provide genetic evidence that HNF-1α serves as an upstream regulator of HNF-4α and interacts directly with the P2 promoter in human pancreatic cells. Furthermore, they indicate that this regulation is essential to maintain normal pancreatic function.

Authors

Sara K. Hansen, Marcelina Párrizas, Maria L. Jensen, Stepanka Pruhova, Jakob Ek, Sylvia F. Boj, Anders Johansen, Miguel A. Maestro, Francisca Rivera, Hans Eiberg, Michal Andel, Jan Lebl, Oluf Pedersen, Jorge Ferrer, Torben Hansen