Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
about
Inherited disorders of bilirubin clearanceNew insights in bilirubin metabolism and their clinical implicationsGenetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotypeExpression of the UDP-glucuronosyltransferase 1A locus in human colon. Identification and characterization of the novel extrahepatic UGT1A8Developmental hyperbilirubinemia and CNS toxicity in mice humanized with the UDP glucuronosyltransferase 1 (UGT1) locus.NEW INSIGHTS INTO THE PRESENCE OF BILIRUBIN IN A PLANT SPECIES STRELITZIA NICOLAI (STRELITZIACEAE).Phosphorylation of a UDP-glucuronosyltransferase regulates substrate specificityIdentification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.Regulated phosphorylation of a major UDP-glucuronosyltransferase isozyme by tyrosine kinases dictates endogenous substrate selection for detoxification.Pharmacogenomics of human UDP-glucuronosyltransferase enzymes.Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosisA human minor histocompatibility antigen resulting from differential expression due to a gene deletionRole of extrahepatic UDP-glucuronosyltransferase 1A1: Advances in understanding breast milk-induced neonatal hyperbilirubinemia.Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient.Human PXR variants and their differential effects on the regulation of human UDP-glucuronosyltransferase gene expression.Src supports UDP-glucuronosyltransferase-2B7 detoxification of catechol estrogens associated with breast cancerMolecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II.Gene replacement therapy for genetic hepatocellular jaundice.Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).The Tunisian population history through the Crigler-Najjar type I syndrome.Neurologic perspectives of Crigler-Najjar syndrome type I.Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease.Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.Long-term reduction of serum bilirubin levels in Gunn rats by retroviral gene transfer in vivo.The novel UGT1 gene complex links bilirubin, xenobiotics, and therapeutic drug metabolism by encoding UDP-glucuronosyltransferase isozymes with a common carboxyl terminus.Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BILDefective UGT1A1 does not transfer GlcA from UDP-GlcA to BMGMultiple origins of green blood in New Guinea lizards.A genome scan for loci influencing anti-atherogenic serum bilirubin levels
P2860
Q26776470-DC2228EA-EEF0-47C6-B22A-6A18B9ECD5A8Q26863145-C5251442-C1B8-4F4B-AD7F-F4E56D42AA6DQ28140057-8BCBBFDC-0A15-4687-ACEB-F71BE2D24D23Q28267058-21DE95C9-48C6-4DA1-8E31-3A6F4B390ED4Q30493784-6CF8F2E0-7DDC-4093-AAB2-68AB08724185Q33732910-C0BE6071-CA16-4B67-8FD3-39F9EE600F96Q33771993-6602CCE6-B6DA-4A7E-8856-8EADE38A2002Q34124730-AE7D05C1-92A9-488A-B773-92F740426528Q34384716-F3BDBD41-8D34-4C82-A75E-40114A72CDCCQ34489142-801D5919-1E01-4162-BC21-593CF52E6293Q35157993-FFC956FC-3990-40B7-97F6-4AE92DC04A07Q35195055-455182C2-F898-4746-8E5F-721BB8604958Q36370375-31DADE9B-79DC-405E-86C4-BFF8E399ECD0Q36450835-1F6824EF-A918-49FF-9BBE-ECCA6D3A765FQ36715577-D695A3D8-57B6-42B8-B9B6-C167D5A8F1F2Q37120639-5D6329CB-0C82-4E35-9108-31F833AA2A2DQ37262571-EC3F2C17-01D2-4DEE-8A39-B8E9E4FF2692Q37709064-CEA2F394-78F2-4F31-96E4-AF6690663B43Q38260248-3226AA42-5B1A-422D-9D68-8A4AE215D874Q38872573-27163DD2-C4DF-46E4-AD47-07C388925A3DQ39010529-C2F2B974-919D-4E85-89E9-A82DFC99EC8EQ39352088-C0C80978-7EE6-4D71-B076-F4DAA244BC03Q40851763-12CB79ED-8CC2-4EBE-B4A3-821FEECB7D3DQ43195722-B87B9B08-306A-49AB-9C12-D80302C24694Q43968197-22BFACAD-EABB-4714-8809-F34568ACD166Q44966651-25EE7236-F6C8-4240-B3DA-DA53A18803CFQ45178769-8974393A-6EF4-468A-B352-EAF95CF63F8AQ45885418-32D23A25-0EB5-4DF2-881D-A06527A7372CQ48059211-3987782C-B833-45C1-B399-6FE5BF53B1F1Q50289175-59382974-CDE4-436E-A572-2B2943458FBEQ55214617-F6932BCA-9704-4ACA-AABA-342153A7DF5AQ55381728-14732C0D-9E97-45CB-8AB3-541C8622FC8BQ58809843-33002623-C99D-4A0C-A830-137D0E67AF18
P2860
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Identification of a genetic al ...... Crigler-Najjar type I patient.
@ast
Identification of a genetic al ...... Crigler-Najjar type I patient.
@en
type
label
Identification of a genetic al ...... Crigler-Najjar type I patient.
@ast
Identification of a genetic al ...... Crigler-Najjar type I patient.
@en
prefLabel
Identification of a genetic al ...... Crigler-Najjar type I patient.
@ast
Identification of a genetic al ...... Crigler-Najjar type I patient.
@en
P2093
P2860
P356
P1476
Identification of a genetic al ...... Crigler-Najjar type I patient.
@en
P2093
P2860
P304
P356
10.1172/JCI115829
P407
P577
1992-07-01T00:00:00Z