Bilirubin genetics for the nongeneticist: hereditary defects of neonatal bilirubin conjugation.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Pediatrics

• Publication date

  2003-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1542/PEDS.111.4.886PMID 12671128
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia.

  2002cited by this paper
• Neonatal hyperbilirubinemia and Gilbert's syndrome

  2002cited by this paper
• Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundice

  2002cited by this paper
• Hemolysis and bilirubin conjugation in association with UDP‐glucuronosyltransferase 1A1 promoter polymorphism

  2002cited by this paper
• Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy

  2001cited by this paper
• Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome

  2001cited by this paper
• Hyperbilirubinaemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome

  2001cited by this paper
• Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus.

  2001cited by this paper
• Hepatic uptake of organic anions affects the plasma bilirubin level in subjects with Gilbert's syndrome mutations in UGT1A1

  2001cited by this paper
• Neonatal hyperbilirubinemia.

  2001cited by this paper
• Prediction of Hyperbilirubinemia in Near-Term and Term Infants

  2001cited by this paper
• Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

  2001cited by this paper
• Neonatal jaundice and kernicterus.

  2001cited by this paper
• The phenobarbital response enhancer module in the human bilirubin UDP‐glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR

  2001cited by this paper
• Differing Pathogenesis of Perinatal Bilirubinemia in Glucose-6-Phosphate Dehydrogenase-Deficient Versus-Normal Neonates

  2001cited by this paper
• Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene.

  2000cited by this paper
• Genetic lesions of bilirubin uridine‐diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler‐Najjar and Gilbert syndromes: Correlation of genotype to phenotype

  2000cited by this paper
• Polymorphisms in UDP Glucuronosyltransferase Genes: Functional Consequences and Clinical Relevance

  2000cited by this paper
• Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates.

  2000cited by this paper
• Association of Neonatal Hyperbilirubinemia With Bilirubin UDP-Glucuronosyltransferase Polymorphism

  1999cited by this paper
• Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide.

  1999cited by this paper
• Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.

  1999cited by this paper
• Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome

  1999cited by this paper
• Molecular genetic basis of Gilbert’s syndrome

  1999cited by this paper
• Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn.

  1999cited by this paper
• Diagnosis and management of Crigler-Najjar syndrome

  1999cited by this paper
• Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates.

  1999cited by this paper
• Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese

  1999cited by this paper
• Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome

  1999cited by this paper
• Gilbert syndrome accelerates development of neonatal jaundice.

  1998cited by this paper
• Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation.

  1998cited by this paper
• Gene Therapy with Bilirubin-UDP-Glucuronosyltransferase in the Gunn Rat Model of Crigler-Najjar Syndrome Type 1

  1998cited by this paper
• Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.

  1998cited by this paper
• Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?

  1998cited by this paper
• Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.

  1998cited by this paper
• Human hepatocyte transplantation: gene therapy and more?

  1998cited by this paper
• Biochemical and molecular aspects of genetic disorders of bilirubin metabolism.

  1998cited by this paper
• UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis.

  1998cited by this paper
• Hyperbilirubinaemia in heterozygous β‐thalassaemia is related to co‐inherited Gilbert's syndrome

  1997cited by this paper
• Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.

  1997cited by this paper
• The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β‐thalassaemia and in glucose‐6‐phosphate dehydrogenase deficiency

  1997cited by this paper
• Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.

  1997cited by this paper
• Genetic diseases of bilirubin metabolism: the inherited unconjugated hyperbilirubinemias.

  1996cited by this paper
• Evaluation of neonatal jaundice: monitoring the transition in bilirubin metabolism.

  1996cited by this paper
• The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.

  1995cited by this paper
• Wasted health care dollars. Routine cord blood type and Coombs' testing.

  1995cited by this paper
• Prevalence and lack of clinical significance of blood group incompatibility in mothers with blood type A or B.

  1994cited by this paper
• Serum and bile bilirubin pigments in the differential diagnosis of Crigler-Najjar disease.

  1994cited by this paper
• Investigation of the substrate specificity of a cloned expressed human bilirubin UDP-glucuronosyltransferase: UDP-sugar specificity and involvement in steroid and xenobiotic glucuronidation.

  1994cited by this paper
• Practice parameter: management of hyperbilirubinemia in the healthy term newborn. American Academy of Pediatrics. Provisional Committee for Quality Improvement and Subcommittee on Hyperbilirubinemia.

  1994cited by this paper
• Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37.

  1993cited by this paper
• Tin-protoporphyrin in the management of children with Crigler-Najjar disease.

  1989cited by this paper
• Relationships between serum bilirubins and production and conjugation of bilirubin. Studies in Gilbert's syndrome, Crigler-Najjar disease, hemolytic disorders, and rat models.

  1987cited by this paper
• An evaluation of bilirubin kinetics with respect to the diagnosis of Gilbert's syndrome.

  1978cited by this paper
• Effect of Low Caloric Diet on Endogenous Carbon Monoxide Production: Normal Adults and Gilbert's Syndrome

  1973cited by this paper
• Detection of Gilbert's syndrome in patients with hemolysis. A method using radioactive chromium.

  1972cited by this paper
• An assessment of red cell survival in idiopathic unconjugated hyperbilirubinaemia (Gilbert's syndrome) by the use of radioactive diisopropylfluorophosphate and chromium.

  1967cited by this paper
• Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families.

  1967cited by this paper
• Reduced red cell survival in jaundice and its relation to abnormal glutathione metabolism.

  1963cited by this paper
• Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults.

  1962cited by this paper
• CONSTITUTIONAL HEPATIC DYSFUNCTION (GILBERTS DISEASE): ITS NATURAL HISTORY AND RELATED SYNDROMES

  1959cited by this paper

• Is it time for a precision health approach to the management of newborn hyperbilirubinemia?

  2024cites this paper
• Should We Consider UGT1A1 Mutation Analysis in Evaluating the Prolonged Jaundice of Newborn Infants?

  2024cites this paper
• The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia

  2023cites this paper
• Dependence of blood biochemical parameters on various genotypes of the UGT1A1 gene associated with gilbert's syndrome.

  2022cites this paper
• The contribution of genetic factors to hyperbilirubinemia and kernicterus risk in neonates: a targeted update

  2021cites this paper
• The biology of bilirubin production: detection and inhibition

  2021cites this paper
• The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns

  2020cites this paper
• The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility

  2020cites this paper
• Uridine diphosphate glucuronosyltransferase 1A1

  2019influential citation
• Neonatal Hyperbilirubinemia in Newborns of the Republic of North Macedonia

  2019cites this paper
• Uridine 5'-diphospho-glucronosyltrasferase: Its role in pharmacogenomics and human disease.

  2018cites this paper
• Correlations between polymorphisms in the uridine diphosphate-glucuronosyltransferase 1A and C-C motif chemokine receptor 5 genes and infection with the hepatitis B virus in three ethnic groups in China

  2017cites this paper
• The role of UGT1A1 promoter polymorphism and exon-1 mutations in neonatal jaundice

  2017cites this paper
• Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia.

  2017cites this paper
• Correlation between UGT1A1 polymorphism and neonatal hyperbilirubinemia of neonates in Wuhan

  2017cites this paper
• Decreased Glutathione S-transferase Level and Neonatal Hyperbilirubinemia Associated with Glucose-6-phosphate Dehydrogenase Deficiency: A Perspective Review

  2016cites this paper
• Physiology and Development of the Term and Preterm Neonate

  2015cites this paper
• Evaluation of Neonatal Hemolytic Jaundice: Clinical and Laboratory Parameters

  2015cites this paper
• UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

  2015cites this paper
• Diagnosis and Treatment of Unconjugated Hyperbilirubinemia

  2014cites this paper
• UNIV ER SID AD PRI V AD A ANTE N OR OR RE G O

  2014cites this paper
• Extreme Neonatal Hyperbilirubinemia and a Specific Genotype: A Population-Based Case-Control Study

  2014cites this paper
• Hiperbilirubinemia noworodków w aspekcie polimorfizmu genu UGT1A1

  2012cites this paper
• Wayward effect of polymorphism (TA)8 in the promoter region of UGT1A1 gene in a Mexican family.

  2012cites this paper
• Pathologic Unconjugated Hyperbilirubinemia, Isoimmunization, Abnormalities of Red Cells and Infections

  2012cites this paper
• Association of G71R Mutation of the UGT1A1 Gen with Neonatal Hyper Bilirubinemia in the Iranian Population

  2012cites this paper
• Case of Severe Unconjugated Hyperbilirubinemia in a Neonate Heterozygous for Gilbert Syndrome

  2012cites this paper
• Der prädiktive Wert des Nabelschnurbilirubins und des Serumbilirubinwertes vom 3. Lebenstag bezüglich der Entwicklung einer Hyperbilirubinämie

  2011cites this paper
• Neonatal Hyperbilirubinemia and Organic Anion Transporting Polypeptide-2 Gene Mutations

  2011cites this paper
• Neonatal hyperbilirubinemia and G71R mutation of the UGT1A1 gene in Turkish patients

  2011cites this paper
• Perspective on Neonatal Hyperbilirubinemia

  2011cites this paper
• Novel treatment strategies for unconjugated hyperbilirubinemia

  2011cites this paper
• Crigler–Najjar Syndrome

  2011cites this paper
• Neonatal jaundice and liver disease

  2011cites this paper
• Chapter 14 – Breastfeeding Infants With Problems

  2011cites this paper
• Screening for G71R mutation of the UDP-glucuronosyltransferase 1 (UGT1A1) gene in neonates with pathologic and prolonged hyperbilirubinemia in Turkey.

  2010cites this paper
• Glucose-6-phosphate dehydrogenase deficiency and severe neonatal hyperbilirubinemia: a complexity of interactions between genes and environment.

  2010cites this paper
• Bilirubin v popkovnični krvi kot napovednik neonatalne hiperbilirubinemije

  2010cites this paper
• An hour-specific nomogram for transcutaneous bilirubin values in term and late preterm Hispanic neonates.

  2009cites this paper
• An Hour-specific Nomogram for Transcutaneous Bilirubin Values in Term and Late Preterm Hispanic Neonates

  2009cites this paper
• Cycle Bilirubin Benefits: Cellular Protection by a Biliverdin Reductase Antioxidant

  2009cites this paper
• Complex Multifactorial Nature of Significant Hyperbilirubinemia in Neonates

  2009cites this paper
• Risk factors for severe hyperbilirubinemia among infants with borderline bilirubin levels: a nested case-control study.

  2008cites this paper
• (TA)n UDP-Glucuronosyltransferase 1A1 Promoter Polymorphism in Nigerian Neonates

  2008cites this paper
• Phototherapy for neonatal jaundice.

  2008cites this paper
• [Gilbert syndrome].

  2008cites this paper
• La alimentación de los bebés influye en la salud cardiovascular

  2008cites this paper
• Φυτοιστρογόνα και υγεία του παιδιού

  2008cites this paper
• Fototerapia para la ictericia neonatal

  2008cites this paper
• Neonatal Jaundice: Bilirubin Physiology and Clinical Chemistry

  2007cites this paper
• Intra- and interindividual variability of glucuronidation of paracetamol during repeated administration of propacetamol in neonates

  2007cites this paper
• Cord blood bilirubin level in relation to bilirubin UDP‐glucuronosyltransferase gene missense allele in Chinese neonates

  2007cites this paper
• Kernicterus and the molecular mechanisms of bilirubin-induced CNS injury in newborns

  2007cites this paper
• Genetic factors in neonatal hyperbilirubinemia and kernicterus.

  2007cites this paper
• Molecular mechanism of phase I and phase II drug-metabolizing enzymes: implications for detoxification.

  2007cites this paper
• Investigation of Urinary Tract Infection in Neonates with Hyperbilirubinemia

  2007cites this paper
• Síndrome de Gilbert: estudio de 12 observaciones y revisión de la bibliografía médica

  2007cites this paper
• Neonatal jaundice.

  2006cites this paper
• Messenger molecules and cell death: therapeutic implications.

  2006cites this paper
• Biochemistry testing associated with pregnancy and the newborn period -- a lot has changed since you were a baby!

  2006cites this paper
• Pharmacogenetic screening of docetaxel, irinotecan and fluoropyrimidines in cancer therapy

  2006cites this paper
• Heme biosynthesis: structure-activity studies of murine ferrochelatase

  2006cites this paper
• What's in a Name? Physiologic and Pathologic Jaundice: The Conundrum of Defining Normal Bilirubin Levels in the Newborn

  2006cites this paper
• The Effectiveness of Oral Tin Mesoporphyrin Prophylaxis in Reducing Bilirubin Production after an Oral Heme Load in a Transgenic Mouse Model

  2006cites this paper
• ¿Qué significa un nombre? Ictericia fisiológica y patológica: el enigma de definir los valores normales de bilirrubina en el neonato

  2006cites this paper
• Vigintiphobia Revisited

  2005cites this paper
• Bilirubin benefits: cellular protection by a biliverdin reductase antioxidant cycle.

  2004cites this paper
• Genetics and the Risk of Neonatal Hyperbilirubinemia: Commentary on the article by Huang et al. on page 682

  2004cites this paper
• A primer on neonatal jaundice.

  2004cites this paper