نتایج جستجو برای: glucuronosyltransferase gene

تعداد نتایج: 1142424  

Journal: :The Journal of clinical investigation 1992
J K Ritter M T Yeatman P Ferreira I S Owens

Patients with Crigler-Najjar syndrome (CN) type I inherit an autosomal recessive trait for hyperbilirubinemia, which is characterized by the total absence of bilirubin UDP-glucuronosyltransferase (transferase) activity. The recent identification of two bilirubin transferase isoforms with identical carboxyl termini (Ritter, J. K., J. M. Crawford, and I. S. Owens. 1991. J. Biol. Chem. 266:1043-10...

Journal: :Human molecular genetics 1996
O Koiwai S Aono Y Adachi T Kamisako Y Yasui M Nishizawa H Sato

Crigler-Najjar syndrome type II (CN-II) is caused by a severely reduced hepatic activity of bilirubin UDP-glucuronosyltransferase (UGT). Recently, by the analysis of the genetic background of CN-II patients, it has been clarified that the patients carry homozygous missense mutations or nonsense plus missense mutations on the gene for UGT, and CN-II was inherited as an autosomal recessive trait....

2011
Shigeo Iijima Takehiko Ohzeki Yoshihiro Maruo

Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further eval...

2008
Eun Ryoung Kim Jae Myoung Lee Ji Sook Kim

Purpose : It has been known that breast milk cause prolonged unconjugated hyperbilirubinemia. UGT1A1 is a important gene of uridine diphosphate glucuronosyltransferase (UGT) which has a major role of bilirubin metabolism. These findings suggest that there is a relationship between UGT1A1 gene mutation and prolonged jaundice of breast feeding infant. The aim of study was to investigate whether a...

2016
Giuseppe Ronzitti Giulia Bortolussi Remco van Dijk Fanny Collaud Severine Charles Christian Leborgne Patrice Vidal Samia Martin Bernard Gjata Marcelo Simon Sola Laetitia van Wittenberghe Alban Vignaud Philippe Veron Piter J Bosma Andres F Muro Federico Mingozzi

Crigler-Najjar syndrome is a severe metabolic disease of the liver due to a reduced activity of the UDP Glucuronosyltransferase 1A1 (UGT1A1) enzyme. In an effort to translate to the clinic an adeno-associated virus vector mediated liver gene transfer approach to treat Crigler-Najjar syndrome, we developed and optimized a vector expressing the UGT1A1 transgene. For this purpose, we designed and ...

2016
Yi-Hao Weng Ya-Wen Chiu Shao-Wen Cheng Chun-Yuh Yang

BACKGROUND Hyperbilirubinemia is a common disorder during neonatal period in Taiwan. Gene variants may play an important role in the development of neonatal hyperbilirubinemia. The current study investigated the association between neonatal hyperbilirubinemia and common gene variants involving the production and metabolism of bilirubin. METHODS This prospective study enrolled 444 healthy infa...

Journal: :The Journal of pharmacology and experimental therapeutics 2000
H Yamada H Matsunaga K Tsuji S Matsumoto M Yamamoto Y Ishii C J Omiecinski K Oguri

The Qdj:Sprague-Dawley (SD) rat is a mutant strain lacking in phenobarbital (PB)-mediated induction of CYP2B2. The presence of interindividual differences in the hepatic content of CYP2B proteins and testosterone 16beta-hydroxylase activity demonstrated that the breeding colony of Qdj:SD rats involves normal (+/+) and intermediate (+/-) phenotypes as well as mutant (-/-)-type rats. Although PB-...

Journal: :Nippon Eiseigaku Zasshi (Japanese Journal of Hygiene) 2002

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