Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

Human Molecular Genetics
M WadaM Kuwano

Abstract

Members of the ATP-binding cassette (ABC) transporter superfamily are mutated to cause diseases that include cystic fibrosis, hyperinsulinemia, adrenoleukodystrophy, Stargardt disease and multidrug resistance. We recently isolated a novel human member of ABC transporter superfamily as the candidate transporter for the glucuronide and glutathione-conjugated antitumor agents, and found it highly homologous to the rat cmoat gene. consistent with recent findings of defects in the homologous cmoat gene in two rat models of hyperbilirubinemia (TR- and Eisai), we report two deletions and a missense mutation in the active transport family signature region in the gene in patients with hyperbilirubinemia II/Dubin-Johnson syndrome (DJS; MIM 237500), respectively. These results strongly implicate the cMOAT gene as responsible for the defects in DJS patients.

Citations

Jul 31, 2001·International Journal of Cancer. Journal International Du Cancer·T OguriN Kohno
Mar 17, 2006·Naunyn-Schmiedeberg's Archives of Pharmacology·Christine OswaldLutz Schmitt
Jul 19, 2006·Pflügers Archiv : European journal of physiology·Anne T Nies, Dietrich Keppler
Oct 12, 2011·Pathology Oncology Research : POR·Adam MaciejczykPaweł Surowiak
Jun 25, 2005·Journal of Hepatology·Christiane Pauli-MagnusPeter J Meier
Oct 16, 2002·Biochemical and Biophysical Research Communications·Shuichi TsuruokaAkio Fujimura
Jun 5, 2003·Biochemical Pharmacology·Naomi MoritaKazuo Nakayama
Sep 8, 2001·Steroids·K AkimotoH Takikawa
Jan 5, 2002·Journal of Controlled Release : Official Journal of the Controlled Release Society·Hiroyuki Kusuhara, Yuichi Sugiyama
Apr 3, 2001·Journal of Hepatology·M Fuchs, E F Stange
Dec 21, 2000·European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences·G J HooiveldM Müller
Aug 28, 1998·Current Opinion in Cell Biology·B Stieger, P J Meier
May 6, 2003·Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy·Alex SparreboomWilliam D Figg
Oct 8, 1999·International Journal of Urology : Official Journal of the Japanese Urological Association·S NaitoH Koga
Sep 6, 2000·Kidney International·K I InuiH Saito
Oct 24, 2002·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Kenkichi HashimotoMichihiko Kuwano
Oct 7, 2006·Current Opinion in Gastroenterology·R Thompson
Oct 26, 2000·Current Opinion in Lipidology·G SchmitzE Orsó
Mar 27, 2001·Current Opinion in Lipidology·G Schmitz, T Langmann
May 3, 2005·Pharmacogenetics and Genomics·Jean-Sébastien HulotPhilippe Lechat
Mar 12, 2004·Journal of Gastroenterology and Hepatology·Naoko HanawaHajime Takikawa
Jan 21, 2004·Journal of Gastroenterology and Hepatology·Makoto KurodaYukihiko Adachi
Apr 28, 2005·Journal of Gastroenterology and Hepatology·Motoe TakayanagiHajime Takikawa
Nov 29, 2002·Eukaryotic Cell·Christophe AnjardUNKNOWN Dictyostelium Sequencing Consortium
Jan 28, 2004·Annual Review of Pharmacology and Toxicology·Wooin Lee, Richard B Kim
Mar 24, 2006·Nephron. Physiology·Vincent Launay-VacherGilbert Deray
Mar 22, 2006·Pediatric Research·Jyh-Hong LeeMei-Hwei Chang
Nov 30, 2000·Clinical Chemistry and Laboratory Medicine : CCLM·T IshikawaM Suzuki
Dec 20, 2003·Pharmacogenomics·Toshihisa IshikawaYasuhiro Sumino
Oct 13, 2007·Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine·Yukihiko Adachi
Oct 24, 2013·World Journal of Gastroenterology : WJG·Eva Sticova, Milan Jirsa
Nov 2, 2001·Biochemical and Biophysical Research Communications·H YabuuchiT Ishikawa

❮ Previous
Next ❯

Related Concepts

Related Feeds

Antimicrobial Resistance (ASM)

Antimicrobial resistance poses a significant threat to the continued successful use of antimicrobial agents for the treatment of bacterial infections.

Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

Antimicrobial Resistance

Antimicrobial resistance poses a significant threat to the continued successful use of antimicrobial agents for the treatment of bacterial infections.