Biochemical and Biophysical Research Communications
Regular ArticleA Splice Mutation in the Human Canalicular Multispecific Organic Anion Transporter Gene Causes Dubin-Johnson Syndrome☆
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Bile pigment metabolism and its disorders
2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal DisordersClinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan
2018, Journal of PediatricsCitation Excerpt :Two novel variants were identified (c.351_355dup and c.1354_1357del), and 6 variants were reported in our previous study13: R100Ter, c.1815+2T>A, c.1967+2T>C, R768W, c.2439+2T>C, and K961R (Table III; available at www.jpeds.com). Six variants (R100Ter, R393W, c.1815+2T>A, c.1967+2T>C, c.2439+2T>C, and R1310Ter) have been reported in adolescent or adult patients with Dubin-Johnson syndrome.16-20 Two variants (W709R and R768W) have been reported in patients with neonatal Dubin-Johnson syndrome (Figure 3; available at www.jpeds.com).8,21
Efflux Transporters
2018, Comprehensive Toxicology: Third EditionBile Pigment Metabolism and Its Disorders
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsEfflux Transporters
2010, Comprehensive Toxicology, Second EditionBenign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia–A narrative review
2022, United European Gastroenterology Journal
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Abbreviations used: DJS, Dubin-Johnson syndrome; CMOAT, canalicular multispecific organic anion transporter
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Address for correspondence: Susumu Kajihara M.D., Ph.D., Division of Metabolism and Endocrinology, Department of Internal Medicine, Saga Medical School, 5-1-1 Nabeshima, Saga 849-8501, Japan. Fax: 81-11-952-34-2017. E-mail:[email protected].