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Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II

Iijima S, Ohzeki T, Maruo Y

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...
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A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis

Kim SY, Lee SH, Koh H, Lee ST, Ki CS, Kim JW, Chung KS

  • KMID: 2275358
  • Korean J Pediatr Gastroenterol Nutr.
  • 2008 Sep;11(2):219-222.
Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons...
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A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome

Lim JW, Choi JH, Nam YH, Seo IS, Yoon SM, Koo MS

Congenital hemolytic anemia is mainly developed due to intrinsic defects of erythrocytes, but in some cases the cause of hemolytic anemia is unclear. Gilbert's syndrome shows mild, chronic unconjugated hyperbilirubinemia...
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A Case of Gilbert's Syndrome with Severe Neonatal Hyperbilirubinemia

Hong YS, Jin JY, Lee WR

  • KMID: 2321501
  • J Korean Soc Neonatol.
  • 2010 Nov;17(2):266-269.
Gilbert's syndrome is caused by a reduction in the activity of uridine diphosphate glucuronosyltransferase (UGT) and induces chronic, non-hemolytic unconjugated hyperbilirubinemia. It has been suggested that 3-10% of the population...
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UDP-glucuronosyltransferase 1A1 Gene Polymorphism in Severe Neonatal Hyperbilirubinemia

Jeon JD, Jo HS, Lee SG, Byun SH, Yeo JS, Ahn YH, Chang SH, Kim SY, Choi JW

  • KMID: 2144520
  • J Korean Soc Neonatol.
  • 2007 May;14(1):46-52.
PURPOSE: TATA box mutation/polymorphism in the promoter region of the bilirubin uridinediphosphoglucuronate glucuronosyltransferase 1A1 (UGT-1A1) gene is known to be an etiology of hyperbilirubinemia. This study examined if a TATA...
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A Study of Polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) Promoter Gene in Korean Patients with Gilbert's Syndrome

Kim YH, Yeon JE, Jung GM, Kim HJ, Kim JS, Byun KS, Bak YT, Lee CH

  • KMID: 1123162
  • Korean J Hepatol.
  • 2002 Jun;8(2):132-138.
BACKGROUNDS/AIMS: Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal in patients with Gilbert's syndrome. Patients with Gilbert's syndrome have an...
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A Case of Hereditary Spherocytosis Coexisting with Gilbert's Syndrome

Lee MJ, Chang YH, Kang SH, Mun SK, Kim H, Han CJ, Kim J, Kang HJ

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as...
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The relationship between Gly71Arg and TATA box polymorphism of UGT1A1 gene and prolonged hyperbilirubinemia of breast milk feeding infant in Korean

Lee JM, Han YJ, Kim JS, Kim ER

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....
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The Efficacy of UGT1A1 Polymorphism in Chemoradiation Therapy Using Irinotecan in Patients with Locally Advanced Rectal Cancer

Oh SY, Kim YB, Chun MS, Suh KW

  • KMID: 2334401
  • J Korean Soc Coloproctol.
  • 2007 Oct;23(5):344-349.
PURPOSE: Irinotecan (CPT-11) is hydrolyzed to an active SN-38, which is further detoxicated to SN-38G through conjugation by uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) enzymes. There are many reports that UGT1A1...
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Correlation of UGT2B7 Polymorphism with Cardiotoxicity in Breast Cancer Patients Undergoing Epirubicin/Cyclophosphamide-Docetaxel Adjuvant Chemotherapy

Li H, Hu B, Guo Z, Jiang X, Su X, Zhang X

PURPOSE: The present study aimed to investigate correlations between uridine glucuronosyltransferase 2B7 (UGT2B7) -161 single nucleotide polymorphism C to T (C>T) and the occurrence of cardiotoxicity in Chinese breast cancer...
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Incidence of Atazanavir-associated Hyperbilirubinemia in Korean HIV Patients: 30 Months Follow-up Results in a Population with Low UDP-glucuronosyltransferase1A1*28 Allele Frequency

Choe PG, Park WB, Song JS, Kim NH, Song KH, Park SW, Kim HB, Kim NJ, Oh MD

Hyperbilirubinemia is frequently observed in Caucasian HIV patients treated with atazanavir. UDP-glucuronosyltransferase 1A1 polymorphism, UGT1A1*28, which is associated with atazanavir-induced hyperbilirubinemia, is less common in Asians than in Caucasians. However,...
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Gene Expression in the Capsule Tissue of the Frozen Shoulder

Kim JM, Kim YS, Ji JH, Lee JY, Yoo HH, Lee YK

PURPOSE: To investigate the overall expression of extracellular matrix (ECM) and adhesion molecule genes using a gene array technique in the joint capsule of a frozen shoulder. MATERIALS AND METHODS: Tissues...
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Comprehensive Variant Screening of the UGT Gene Family

Kim JY, Cheong HS, Park BL, Kim LH, Namgoong S, Kim JO, Kim HD, Kim YH, Chung MW, Han SY, Shin HD

PURPOSE: UGT1A1, UGT2B7, and UGT2B15 are well-known pharmacogenes that belong to the uridine diphosphate glucuronyltransferase gene family. For personalized drug treatment, it is important to study differences in the frequency...
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A case of concomitant Gilbert's syndrome and hereditary spherocytosis

Lee HJ, Moon HS, Lee ES, Kim SH, Sung JK, Lee BS, Jeong HY, Lee HY, Eu YJ

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to...
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Enhancement of O-dealkylation in Mouse Liver by Dietary Administrations of BHA and BHT: Studies with Isolated Perfused Livers and Hepatic Microsomes

Ji SC, Conway JG, Thurman RG, Cha YN

Effects of feeding 2(3)-tert-butyl 4-hydroxyanisole (BHA) and 3, 5-di-tert-butyl 4-hydroxytoluene (BHT) on the rates of mixed function oxidation and conjugation enzyme reactions have been determined using isolated hepatic microsomal fractions...
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Transcriptional Regulation of Proteoglycans and Glycosaminoglycan Chain-synthesizing Glycosyltransferases by UV Irradiation in Cultured Human Dermal Fibroblasts

Shin JE, Oh JH, Kim YK, Jung JY, Chung JH

Various kinds of glycosaminoglycans (GAGs) and proteoglycans (PGs) have been known to be involved in structural and space-filling functions, as well as many physiological regulations in skin. To investigate ultraviolet...
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