crigler najjar syndrome

Summary

Summary: A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.

Top Publications

  1. ncbi Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia
    I Zmetáková
    Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynská dolina B2 210, 842 15 Bratislava, Slovakia
    Gen Physiol Biophys 26:306-10. 2007
  2. ncbi Involvement of UDP-glucuronosyltransferase activity in irinotecan-induced delayed-onset diarrhea in rats
    Masaharu Onoue
    Yakult Central Institute for Microbiological Research, 1796 Yaho, Kunitachi shi, Tokyo, 186 8650, Japan
    Cancer Chemother Pharmacol 61:595-605. 2008
  3. ncbi [A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]
    Norikazu Shimizu
    Second Department of Pediatrics, Toho University School of Medicine, Tokyo
    No To Hattatsu 37:337-41. 2005
  4. ncbi Successful gene therapy of the Gunn rat by in vivo neonatal hepatic gene transfer using murine oncoretroviral vectors
    Marta Bellodi-Privato
    Biothérapies Hépatiques, INSERM CIC 04, CHU Hotel Dieu, 44093 Nantes Cedex 01, France
    Hepatology 42:431-8. 2005
  5. ncbi [Inherited disorders of bilirubin metabolism]
    F Rossi
    Dipartimento di Pediatria, , Naples
    Minerva Pediatr 57:53-63. 2005
  6. ncbi Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese
    Ching Shan Huang
    Department of Medical Technology, Fooyin University, 151 Chin Hsueh Rd, Ta Liao Hsiang, Kaohsiung, Hsien, 831, Taiwan
    J Biomed Sci 12:445-50. 2005
  7. ncbi Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation
    Veronica Servedio
    Laboratory of Molecular Medicine, University of Foggia, Italy
    Hum Mutat 25:325. 2005
  8. ncbi The effect of zinc salts on serum bilirubin levels in hyperbilirubinemic rats
    Libor Vitek
    Institute of Clinical Biochemistry and Laboratory Diagnostics and 4th Department of Internal Medicine, 1st Medical Faculty, Charles University of Prague, U nemocnice 2, Praha 2, 128 08, Czech Republic
    J Pediatr Gastroenterol Nutr 40:135-40. 2005
  9. ncbi Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
    François M Petit
    Service de Biochimie et Hormonologie, Hopital Antoine Beclere, Clamart, France
    Eur J Hum Genet 13:278-82. 2005
  10. ncbi Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases
    F M Petit
    Clin Genet 66:571-2. 2004

Scientific Experts

Detail Information

Publications135 found, 100 shown here

  1. ncbi Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia
    I Zmetáková
    Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynská dolina B2 210, 842 15 Bratislava, Slovakia
    Gen Physiol Biophys 26:306-10. 2007
    ..Haplotype analysis suggests that the 1220delA mutation is identical by descent in both families, though they originate from two ethnically different populations (Slovaks vs. Roms)...
  2. ncbi Involvement of UDP-glucuronosyltransferase activity in irinotecan-induced delayed-onset diarrhea in rats
    Masaharu Onoue
    Yakult Central Institute for Microbiological Research, 1796 Yaho, Kunitachi shi, Tokyo, 186 8650, Japan
    Cancer Chemother Pharmacol 61:595-605. 2008
    ..In the clinic, great care is needed when using chemotherapy with CPT-11 in patients with poor UGT activity...
  3. ncbi [A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]
    Norikazu Shimizu
    Second Department of Pediatrics, Toho University School of Medicine, Tokyo
    No To Hattatsu 37:337-41. 2005
    ..Subsequent liver transplantation resulted in improvement of neurological signs and symptoms, and recovery of his mental function...
  4. ncbi Successful gene therapy of the Gunn rat by in vivo neonatal hepatic gene transfer using murine oncoretroviral vectors
    Marta Bellodi-Privato
    Biothérapies Hépatiques, INSERM CIC 04, CHU Hotel Dieu, 44093 Nantes Cedex 01, France
    Hepatology 42:431-8. 2005
    ..In conclusion, complete and permanent correction of hyperbilirubinemia in newborn Gunn rats using retroviral vectors can be obtained, paving the way for future gene therapy for CN1...
  5. ncbi [Inherited disorders of bilirubin metabolism]
    F Rossi
    Dipartimento di Pediatria, , Naples
    Minerva Pediatr 57:53-63. 2005
    ..Liver or liver cell transplantation is the therapy in some cases...
  6. ncbi Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese
    Ching Shan Huang
    Department of Medical Technology, Fooyin University, 151 Chin Hsueh Rd, Ta Liao Hsiang, Kaohsiung, Hsien, 831, Taiwan
    J Biomed Sci 12:445-50. 2005
    ..Further investigation is warranted to evaluate this phenomenon...
  7. ncbi Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation
    Veronica Servedio
    Laboratory of Molecular Medicine, University of Foggia, Italy
    Hum Mutat 25:325. 2005
    ....
  8. ncbi The effect of zinc salts on serum bilirubin levels in hyperbilirubinemic rats
    Libor Vitek
    Institute of Clinical Biochemistry and Laboratory Diagnostics and 4th Department of Internal Medicine, 1st Medical Faculty, Charles University of Prague, U nemocnice 2, Praha 2, 128 08, Czech Republic
    J Pediatr Gastroenterol Nutr 40:135-40. 2005
    ..In the present study the authors investigated the effect of oral administration of zinc salts on serum bilirubin levels in hyperbilirubinemic rats...
  9. ncbi Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
    François M Petit
    Service de Biochimie et Hormonologie, Hopital Antoine Beclere, Clamart, France
    Eur J Hum Genet 13:278-82. 2005
    ..This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases...
  10. ncbi Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases
    F M Petit
    Clin Genet 66:571-2. 2004
  11. ncbi Vigintiphobia revisited
    Jon F Watchko
    Division of Neonatology and Developmental Biology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Pediatrics 115:1747-53. 2005
    ....
  12. ncbi Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I
    M L Kulkarni
    Indian Pediatr 40:1209-10. 2003
  13. ncbi A novel strategy for in vivo expansion of transplanted hepatocytes using preparative hepatic irradiation and FasL-induced hepatocellular apoptosis
    M Takahashi
    Department of Medicine, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Gene Ther 10:304-13. 2003
    ..This is the first demonstration of massive hepatic repopulation by transplanted cells by HIR and FasL-induced controlled apoptosis of host liver cells...
  14. ncbi [Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus]
    Doris Kraemer
    Medizinische Poliklinik, Universitat Wurzburg
    Med Klin (Munich) 97:528-32. 2002
    ..Crigler-Najjar syndrome II leads to a more serious kind of hyperbilirubinemia. In case of Crigler-Najjar syndrome I patients are suffering from a very severe hyperbilirubinemia, which often causes death during the first months of life...
  15. ncbi [From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II]
    J P H Drenth
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 146:1488-90. 2002
    ..There is a persistent unconjugated hyperbilirubinemia (range 300-850 mumol/l) with the plasma concentrations being higher in type I than in type II. Genetic mutations in exon 1-5 cause both Crigler-Najjar type I and type II...
  16. ncbi Single hepatic venous injection of liver-specific naked plasmid vector expressing human UGT1A1 leads to long-term correction of hyperbilirubinemia and prevention of chronic bilirubin toxicity in Gunn rats
    Zhen Jia
    Department of Pediatrics, Waisman Center, University of Wisconsin Madison, 53705, USA
    Hum Gene Ther 16:985-95. 2005
    ..Our results provide further evidence of the feasibility of long-term correction of hepatic enzyme deficiencies with plasmid vectors optimized for expression in the liver...
  17. ncbi Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia
    A A Khan
    Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Owaisi Hospital and Research Center, Hyderabad, India
    Transplant Proc 40:1148-50. 2008
    ..This study was developed to assess the safety, feasibility, and efficacy of hepatic progenitor cell transplantation in a child with CNS type 1...
  18. ncbi Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II
    Yeon Seok Seo
    Scand J Gastroenterol 42:540-1. 2007
  19. ncbi Genetic factors in neonatal hyperbilirubinemia and kernicterus
    S Umit Sarici
    Department of Pediatrics, Gulhane Military Medical Academy, Ankara, Turkey
    Turk J Pediatr 49:245-9. 2007
    ..In these various syndromes where enzymatic and genetic deficiencies are present, studies about treatment with gene replacement, though currently experimental, are ongoing, especially in type 1 Crigler-Najjar...
  20. ncbi Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia
    Maria D'Apolito
    Haematologica 92:133-4. 2007
    ..We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects...
  21. ncbi Case of the month. Chronic hepatitis
    Audrey Griffin
    Wichita State University, Physician Assistant Program, Wichita, Kansas, USA
    JAAPA 19:70. 2006
  22. ncbi Crigler-Najjar syndrome type 2
    Ching Shan Huang
    Department of Medical Technology, Foo Yin University, Kaohsiung, Taiwan
    J Formos Med Assoc 105:950-3. 2006
    ..Two of these mutations were novel and variations identified within the coding region of the UGT1A1 gene were considered the cause of CN-2 in all three patients...
  23. ncbi Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates
    Wandee Udomuksorn
    Department of Clinical Pharmacology, Flinders University and Flinders Medical Centre, Adelaide, South Australia, Australia
    Pharmacogenet Genomics 17:1017-29. 2007
    ....
  24. ncbi Adeno-associated virus vector serotypes mediate sustained correction of bilirubin UDP glucuronosyltransferase deficiency in rats
    Jurgen Seppen
    Academic Medical Center Liver Center, 1105 BK Amsterdam, The Netherlands
    Mol Ther 13:1085-92. 2006
    ..These lipid deposits were not seen in age-matched control animals. AAV1 vectors are promising candidates for CN gene therapy because they can mediate a reduction in serum bilirubin levels in Gunn rats that would be therapeutic in humans...
  25. ncbi [Crigler-Najjar syndrome]
    M Torres
    Servicio de Medicina Interna, Hospital de L Esperit Sant, Santa Coloma de Gramenet, Barcelona, Spain
    Gastroenterol Hepatol 28:637-40. 2005
  26. ncbi Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes
    Elisio Costa
    Escola Superior de Saúde, Instituto Politecnico de Braganca, Avenida D Afonso V, 5300 121 Bragança, Portugal
    Blood Cells Mol Dis 36:91-7. 2006
    ..Homozygosity for the [TA] insertion was found to be the most frequent cause of GS in our population. Identification of further mutations in the UGT1A1 gene was also seen to contribute significantly towards diagnosis...
  27. ncbi Immune response to lentiviral bilirubin UDP-glucuronosyltransferase gene transfer in fetal and neonatal rats
    J Seppen
    AMC Liver Center, 1105 BK Amsterdam, The Netherlands
    Gene Ther 13:672-7. 2006
    ..Our results indicate that fetal and neonatal gene therapy with immunogenic proteins such as UGT1A1 does not necessarily lead to tolerization...
  28. doi Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease
    Nghia Nguyen
    Laboratory of Environmental Toxicology, Departments of Chemistry and Biochemistry and Pharmacology, University of California, San Diego, La Jolla, California 92093, USA
    J Biol Chem 283:7901-11. 2008
    ..Thus, the loss of UGT1A function in Ugt1(-/-) mice leads to a metabolic syndrome that can serve as a model to further investigate the toxicities associated with unconjugated bilirubin and the impact of this disease in humans...
  29. ncbi Therapeutic lentivirus-mediated neonatal in vivo gene therapy in hyperbilirubinemic Gunn rats
    Tuan Huy Nguyen
    Department of Microbiology and Molecular Medicine, CMU, University of Geneva, CH 1211 Geneva, Switzerland
    Mol Ther 12:852-9. 2005
    ..This work represents the first demonstration of a complete and permanent correction of hyperbilirubinemia in Gunn rats using lentiviral vectors...
  30. ncbi A non-immunogenic adenoviral vector, coexpressing CTLA4Ig and bilirubin-uridine-diphosphoglucuronateglucuronosyltransferase permits long-term, repeatable transgene expression in the Gunn rat model of Crigler-Najjar syndrome
    N R Thummala
    Department of Medicine, Albert Einstein College of Medicine, New York, NY 10461, USA
    Gene Ther 9:981-90. 2002
    ..High levels of adenovirus-specific antibodies and CTL, and hepatic inflammation were found. This is the first demonstration that coexpression of CTLA4Ig permits prolonged expression and repeatable gene transfer by an adenoviral vector...
  31. pmc Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy
    W S Lee
    Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
    Arch Dis Child 85:38-42. 2001
    ....
  32. ncbi Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype
    A Kadakol
    Departments of Medicine and Molecular Genetics and Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Hum Mutat 16:297-306. 2000
    ..When the normal allele of a heterozygote carrier for a Crigler-Najjar type structural mutation contains a Gilbert type promoter, intermediate levels of hyperbilirubinemia, consistent with the diagnosis of CN-2, may be observed...
  33. ncbi A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II
    J Seppen
    Department of Gastrointestinal and Liver Diseases, Academic Medical Centre, Amsterdam, The Netherlands
    FEBS Lett 390:294-8. 1996
    ..The mutant protein was expressed with 0.5% efficiency, as compared to wild type. Mutant and wild type mRNAs were translated in vitro. Wild type transferase is processed by microsomes, no processing of the mutant protein was observed...
  34. pmc Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase
    J Seppen
    Department of Gastrointestinal and Liver Diseases, Academic Medical Centre, Amsterdam, The Netherlands
    J Clin Invest 94:2385-91. 1994
    ..We conclude that CN type I is caused by a complete absence of functional B-UGT and that in CN type II B-UGT activity is reduced...
  35. ncbi Gene therapy for inherited hyperbilirubinemias
    N Roy-Chowdhury
    Department of Medicine, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10467, USA
    J Perinatol 21:S114-8; discussion S125-7. 2001
    ..In summary, effective gene therapy methods have been validated in Gunn rats. Despite considerable remaining hurdles, gene therapy for CN-1 could become a clinical reality by the turn of this decade...
  36. ncbi Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I
    P J Bosma
    Department of Gastroenterology and Liver Diseases, Academic Medical Center, Amsterdam, The Netherlands
    FASEB J 6:2859-63. 1992
    ..Presence of identical abnormalities in the common regions of the three mRNAs is consistent with the finding that the common 3' regions of the two B-UGT mRNAs and the P-UGT mRNA are encoded by four shared exons...
  37. ncbi Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II
    S Aono
    Department of Perinatology, Aichi Prefecture Colony, Japan
    Biochem Biophys Res Commun 197:1239-44. 1993
    ..Our patient was homozygous for all defects and his parents and elder brother were heterozygous for all defective alleles. The findings suggest that the CN Type II is inherited as an autosomal recessive trait...
  38. pmc 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
    A Kadakol
    J Med Genet 38:244-9. 2001
  39. ncbi Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man
    P J Bosma
    Division of Gastroenterology, Academic Medical Centre, Amsterdam, The Netherlands
    J Biol Chem 269:17960-4. 1994
    ..Furthermore, we show that the mutation in B-UGT1 observed in each of the two CN-I patients inactivates B-UGT1. Together, the results indicate that B-UGT1 is the only physiologically relevant isoform in bilirubin glucuronidation...
  40. ncbi The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    P J Bosma
    Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands
    N Engl J Med 333:1171-5. 1995
    ..Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal...
  41. ncbi Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene
    Y Maruo
    Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan
    Pediatrics 106:E59. 2000
    ..We analyzed the bilirubin UGT1A1 of infants with prolonged unconjugated hyperbilirubinemia associated with breast milk to ascertain whether genetic factors are involved...
  42. ncbi Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
    Surini Yusoff
    Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, Malaysia
    Biol Neonate 89:171-6. 2006
    ..These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice...
  43. ncbi Ex vivo lentivirus transduction and immediate transplantation of uncultured hepatocytes for treating hyperbilirubinemic Gunn rat
    Tuan Huy Nguyen
    Department of Microbiology and Molecular Medicine, University of Geneva Medical Center, Geneva, Switzerland, and Service de biochimie, Hopital Saint Joseph, Paris, France
    Transplantation 82:794-803. 2006
    ..Here, we evaluated the SLIT approach in Gunn rats, the animal model for Crigler-Najjar syndrome type 1, a defect in bilirubin UDP-glucuronosyltransferase (BUGT)...
  44. ncbi Effects of luminal nutrients and small bowel transplants on congenital indirect hyperbilirubinemia
    A A Burgos
    Department of Surgery, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA
    J Surg Res 69:87-93. 1997
    ..4 +/- 0.3 to 2.5 +/- 0.5 mg bilirubin conjugated/mg tissue/hr. Luminal fats and bile salts appear to augment enzyme-induced bilirubin conjugation in heterotopic jejunal transplant recipients...
  45. pmc Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 22:483-8. 2011
    ....
  46. ncbi Hepatic transport of serum bilirubin, bromsulfophthalein, and indocyanine green in patients with congenital non-hemolytic hyperbilirubinemia and patients with constitutional indocyanine green excretory defect
    M Nambu
    Department of Internal Medicine, Urayasu Hospital of Juntendo, University School of Medicine, Chiba, Japan
    J Gastroenterol 31:228-36. 1996
    ..These results indicate that studies of the hepatic transport of bilirubin, BSP, and ICG are useful for determining the etiological factors involved in congenital hyperbilirubinemia and constitutional ICG excretory defect...
  47. ncbi Hepatocyte transplantation for liver-based metabolic disorders
    Anil Dhawan
    Paediatric Liver Service, King s College Hospital, Denmark Hill, London, SE5 9RS, UK
    J Inherit Metab Dis 29:431-5. 2006
    ..Hepatocytes derived from stem cells could provide alternative sources of cells in the future...
  48. pmc Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1)
    Siddhartha S Ghosh
    Department of Medicine, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Biochem J 392:685-92. 2005
    ....
  49. ncbi Linkage disequilibrium of UGT1A1 *6 and UGT1A1 *28 in relation to UGT1A6 and UGT1A7 polymorphisms
    Naohito Urawa
    Division of Clinical Medicine and Biomedical Sciences, Department of Gastroenterology and Hepatology, Institute of Medical Science, Mie University Graduate School of Medicine, Mie 514 8507, Japan
    Oncol Rep 16:801-6. 2006
    ..Gilbert's syndrome (GS) and Crigler Najjar syndrome type 2 (CNS-II) are characterized by unconjugated hyperbilirubinemia due to reduced enzymatic activity of ..
  50. ncbi Liver after hepatocyte transplantation for liver-based metabolic disorders in children
    Alberto Quaglia
    Institute of Liver Studies, King s College Hospital and King s College London School of Medicine, London, UK
    Cell Transplant 17:1403-14. 2008
    ..Further studies are needed to monitor donor hepatocytes in vivo, to quantify better the efficacy of the procedure and to find ways of improving engraftment and function...
  51. doi Total knee arthroplasty and Crigler-Najjar syndrome: a case report
    David Walmsley
    Division of Orthopedic Surgery, Department of Surgery, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada
    Knee 17:252-4. 2010
    ..A literature review and intra-operative observations provide insight into the possible relationship between hyperbilirubinemia and osteoarthritis as well as the peri-operative considerations to be made for this group of patients...
  52. ncbi The hereditary hyperbilirubinaemias
    M J Nowicki
    Eastern Virginia Medical School, Norfolk, USA
    Baillieres Clin Gastroenterol 12:355-67. 1998
    ..These rare diseases share many clinical features; however, they can be readily distinguished by biochemical markers in the urine and bile...
  53. ncbi Living donor liver transplantation for pediatric patients with inheritable metabolic disorders
    Daisuke Morioka
    Organ Transplant Unit, Kyoto University Hospital, Shogoin Kawara cho, Sakyo ku, Kyoto, 606 8507, Japan
    Am J Transplant 5:2754-63. 2005
    ..LDLT using parental donors can be recommended as an effective treatment for pediatric patients with IMD. In the non-liver-oriented diseases, however, satisfactory outcomes were not obtained by hepatic replacement alone...
  54. ncbi Evolution of the activity of UGT1A1 throughout the development and adult life in a rat
    N Bustamante
    Departamento de Fisiología Fisiología Animal II, Facultad de Biologia, Universidad Complutense de Madrid UCM, 28040, Madrid, Spain
    Life Sci 78:1688-95. 2006
    ..We have found that concentration of samples by evaporation and ulterior storing at -20 degrees C seemed to be suitable for the maintenance of samples...
  55. ncbi Isolation of hepatocytes from livers from non-heart-beating donors for cell transplantation
    Robin D Hughes
    Institute of Liver Studies, King s College London School of Medicine at Guy s, King s College and St Thomas Hospitals, London, UK
    Liver Transpl 12:713-7. 2006
    ..In conclusion, hepatocytes suitable for cell transplantation can be obtained from NHBD livers. Higher viability values may be obtained if both warm and cold ischemia times of donor liver can be reduced prior to processing...
  56. doi Assessment of UGT polymorphisms and neonatal jaundice
    Mark G Bartlett
    University of Minnesota, Minneapolis, MN 55455, USA
    Semin Perinatol 35:127-33. 2011
    ..The purpose of this article is to review the current understanding of the genetic polymorphisms that result in these diseases and discuss recent advances in diagnosis and treatment...
  57. ncbi [CMV-enterocolitis as a cause for repeated intestinal intussusceptions in an adult patient after liver transplantation?]
    S Pischke
    Klinik fur Gastroenterologie, Hepatologie und Endokrinologie, Medizinische Hochschule Hannover
    Z Gastroenterol 48:688-92. 2010
    ..Whenever possible a PCR for CMV in colon biopsies should be carried out to detect an intestinal CMV infection because as shown in our case results for immunohistopathology and CMV pp65 can be negative despite a chronic infection...
  58. ncbi Biochemical and molecular aspects of genetic disorders of bilirubin metabolism
    T Iyanagi
    Department of Life Science, Himeji Institute of Technology, Hyogo, Japan
    Biochim Biophys Acta 1407:173-84. 1998
    ..Elucidation of both the structure of the UGT1 gene complex, and the Mrp2 (cMoat) gene which encodes the canalicular conjugate export pump, has led to a greater understanding of the genetic basis of hyperbilirubinemia...
  59. ncbi Monitoring of intraportal liver cell application in children
    Jochen Meyburg
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Cell Transplant 19:629-38. 2010
    ..Time courses for changes in PVF, PVP, and liver enzymes were obtained. Thorough monitoring of portal vein pressure and duplex sonography according to a defined protocol is likely to increase safety of cell application in pediatric LCT...
  60. ncbi [Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases]
    Hajer Aloulou
    Service de pédiatrie CHU Hédi CHAKER DE SFAX
    Tunis Med 88:707-9. 2010
    ..Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate (UDP) glucuronosyltransferase activity in the liver...
  61. ncbi [UDP-glucuronosyltransferase]
    Yoshihiro Maruo
    Department of Pediatrics, Biology Shiga University of Medical Science, Seta, Otsu, Shiga 520 2192, Japan
    Nihon Eiseigaku Zasshi 56:629-33. 2002
    ..These polymorphisms of UGTs might contribute to individual variations of drug metabolism and toxicity as well as inherited diseases...
  62. ncbi Liver cell transplantation in children
    Jochen Meyburg
    Department of General Paediatrics, University Children s Hospital, Heidelberg, Germany
    Clin Transplant 23:75-82. 2009
    ..Nevertheless, these individual therapeutic attempts of LCT yielded encouraging results, and prospective studies should be initiated...
  63. doi Review of hepatocyte transplantation
    Masahiro Ito
    Department of Surgery, Fujita Health University, Toyoake, Aichi, Japan
    J Hepatobiliary Pancreat Surg 16:97-100. 2009
    ....
  64. ncbi Therapeutic application of chimeric RNA/DNA oligonucleotide based gene therapy
    L W Lai
    Department of Medicine, Sections of Endocrinology and Nephrology, University of Arizona Health Sciences Center, Tucson, Arizona, USA
    Expert Opin Biol Ther 1:41-7. 2001
    ..Chimera based gene therapy has the potential to develop into powerful therapeutic modality for genetic diseases...
  65. ncbi Other genetic liver diseases in children
    Florence Lacaille
    Hopital Necker Enfants Malades, Hepatogastroenterology nutrition unit, 149, rue de Sevres, 75015 Paris, France
    Clin Res Hepatol Gastroenterol 36:301-3. 2012
    ..Gilbert disease is frequent and benign. Crigler-Najjar syndrome is rare, severe, and may be an indication for liver or liver-cell transplantation...
  66. pmc Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndrome
    Anne Laure Sellier
    APHP, Service de Nephrologie Pediatrique, Hopital Robert Debre, boulevard Serrurier, 75019, Paris, France
    JIMD Rep 2:33-6. 2012
    ..55. Following the acute episode of very severe unconjugated hyperbilirubinemia, the child recovered and neurological examination was unchanged, thus suggesting that plasmapheresis possibly prevented further worsening of kernicterus...
  67. ncbi Liver transplantation in Crigler-Najjar syndrome type I disease
    Zhen Hua Tu
    Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Key Laboratory of Combined Multi organ Transplantation, Ministry of Public Health and Key Laboratory of Organ Transplantation of Zhejiang Province, Hangzhou 310003, China
    Hepatobiliary Pancreat Dis Int 11:545-8. 2012
    ..Crigler-Najjar syndrome type I (CNS I) is a very rare autosomal recessive inherited disease that liver transplantation can properly deal with...
  68. doi Monogenic diseases that can be cured by liver transplantation
    Stefano Fagiuoli
    Gastroenterology and Transplant Hepatology, Ospedale Papa Giovanni XXIII, Bergamo, Italy
    J Hepatol 59:595-612. 2013
    ....
  69. doi Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient
    Wei Liang Liu
    Department of Pediatrics, Affiliated Hospital of Guiyang Medical College, Guiyang 550004, PR China
    Mol Med Rep 6:667-9. 2012
    ..The phenotype of this unusual CN syndrome patient may be associated with the specific genotype...
  70. ncbi Role of a homozygous A(TA)₇TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate
    P Nilyanimit
    Center of Excellence in Clinical Virology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    Genet Mol Res 12:3391-7. 2013
    ....
  71. ncbi A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome
    Jin Wang
    Department of Neonatology, Children s Hospital of Fudan University, Shanghai 201102, China
    Chin Med J (Engl) 124:4109-11. 2011
    ..Both of his parents were heterozygous for the same mutation. A novel frame-shifting mutation of the UGT1A1 gene was found, confirming the diagnosis of Crigler-Najjar syndrome type I for this patient...
  72. ncbi Xenobiotic nuclear receptor-mediated regulation of UDP-glucuronosyl-transferases
    J Zhou
    Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh School of Pharmacy, 656 Salk Hall, Pittsburgh, PA 15261, USA
    Curr Drug Metab 6:289-98. 2005
    ..Therefore, elucidating UGT regulation by nuclear receptors has broader significance in understanding UGT's function in various physiological and patho-physiological conditions...
  73. pmc Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer
    Giulia Bortolussi
    International Centre for Genetic Engineering and Biotechnology, Padriciano 99, I 34149 Trieste, Italy
    FASEB J 26:1052-63. 2012
    ..We believe that, besides gene-addition-based therapies, our mice could represent a very useful model to develop and test novel technologies based on gene correction by homologous recombination...
  74. doi Small animal models of hepatocyte transplantation
    Jurgen Seppen
    AMC Liver Center, Amsterdam, The Netherlands
    Methods Mol Biol 481:75-82. 2009
    ..Protocols for the collection of bile in rats and mice are described, and we have also detailed the detection of green fluorescent protein (GFP)-labelled human hepatocytes in immunodeficient mice in this chapter...
  75. ncbi [Relationship between bilirubin UDP-glucuronosyl transferase polymorphism and neonatal jaundice]
    Bin Sha
    Zhongguo Dang Dai Er Ke Za Zhi 9:510-3. 2007
  76. ncbi The Tunisian population history through the Crigler-Najjar type I syndrome
    François M Petit
    Department of Biochemistry, Antoine Beclere Hospital, Universite Paris Sud, UFR Kremlin Bicêtre, Clamart Cedex, France
    Eur J Hum Genet 16:848-53. 2008
    ..After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities...
  77. ncbi Hepatic repopulation with stably transduced conditionally immortalized hepatocytes in the Gunn rat
    Yujo Kawashita
    Department of Medicine, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York, NY 10461, USA
    J Hepatol 49:99-106. 2008
    ....
  78. ncbi [Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II]
    Jorge Carriel Mancilla
    Universidad Católica Santiago de Guayaquil
    Arch Argent Pediatr 108:e100-4. 2010
    b>Crigler Najjar syndrome type II is related to a defect of bilirubin conjugation due to partial deficiency of the enzyme uridine diphosphate-glucuronyl transferase...
  79. doi Lentiviral vectors that express UGT1A1 in liver and contain miR-142 target sequences normalize hyperbilirubinemia in Gunn rats
    Françoise Schmitt
    INSERM Unité 948, CHU Hotel Dieu, Nantes, France
    Gastroenterology 139:999-1007, 1007.e1-2. 2010
    ..We used adult Gunn rats (an animal model of the disease) to evaluate the efficiency of lentiviral-based gene therapy to express UGT1A1 in liver...
  80. ncbi High-throughput single-base mismatch detection for genotyping of UDP-glucuronosyltransferase (UGT1A1) with probe capture assay coupled with modified allele-specific primer extension reaction (MASPER)
    Osamu Kisaki
    Japan Clinical Laboratories, Kumiyama, Kuze gun, Kyoto, Japan
    J Clin Lab Anal 24:85-91. 2010
    ..The proposed method includes ordinary PCR and a microplate assay format, and may be used in routine laboratory tests...
  81. doi Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants
    Nina Sneitz
    Centre for Drug Research, University of Helsinki, Finland
    Hum Mutat 31:52-9. 2010
    ....
  82. doi Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome)
    Christian P Strassburg
    Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Carl Neuberg Str 1, 30625 Hannover, Germany
    Best Pract Res Clin Gastroenterol 24:555-71. 2010
    ..In addition, the precise diagnosis of these inherited hyperbilirubinemic syndromes avoids unnecessary invasive procedures for suspected more severe hepatobiliary disease...
  83. doi Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature
    V Passuello
    Department of Obstetrics and Gynaecology, Johannes Gutenberg University of Mainz, Mainz, Germany
    Fetal Diagn Ther 26:121-6. 2009
    ..Data sources included the PubMed and up to date databases...
  84. ncbi Long-term reduction of jaundice in Gunn rats by nonviral liver-targeted delivery of Sleeping Beauty transposon
    Xia Wang
    Department of Medicine, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx 10461, NY, USA
    Hepatology 50:815-24. 2009
    ..With histidine containing FPL, serum bilirubin was reduced by 40% +/- 5%, and bilirubin glucuronides were excreted into bile. No antibodies were detectable in the recipient rats against the F-protein or human UGT1A1...
  85. pmc Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes
    Yuan Ming Di
    Discipline of Chinese Medicine, School of Health Sciences, RMIT University, Bundoora, Melbourne, Victoria, Australia
    AAPS J 11:469-80. 2009
    ..1% and 66.7%, respectively. These findings demonstrate the potential use of bioinformatics techniques to predict genotype-phenotype relationships which may constitute the basis for future functional studies...
  86. doi Mycophenolate mofetil impairs transduction of single-stranded adeno-associated viral vectors
    Paula S Montenegro-Miranda
    Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, 1105 BK Amsterdam, The Netherlands
    Hum Gene Ther 22:605-12. 2011
    ..Furthermore, because this effect is due to impaired second-strand synthesis, the use of MMF with scAAV seems warranted...
  87. doi A step toward liver gene therapy: efficient correction of the genetic defect of hepatocytes isolated from a patient with Crigler-Najjar syndrome type 1 with lentiviral vectors
    Jacques Birraux
    University of Geneva Medical Centre CMU, Research Laboratory of Pediatric Surgery, Geneva, Switzerland
    Transplantation 87:1006-12. 2009
    ..We also reported SLIT efficiency in the animal model of Crigler-Najjar type 1 syndrome (CN-1), the Gunn rat. Here, we evaluated SLIT efficiency with diseased human hepatocytes...
  88. ncbi Functional characterization of hepatocytes for cell transplantation: customized cell preparation for each receptor
    A Bonora-Centelles
    Unidad de Hepatologia Experimental, Centro de Investigacion, Hospital La Fe, Valencia, Spain
    Cell Transplant 19:21-8. 2010
    ..Finally, livers from non-heart-beating donors are apparently a potential suitable source of hepatocytes, which could enlarge the liver donor pool...
  89. ncbi Epidemiological assessment of liver disease in northeastern Brazil by means of a standardized liver biopsy protocol
    Lucas Lembrança
    Scientific Initiation Program of the Hepatology Unit, University Hospital, Federal University of Bahia, Salvador, Brazil
    Ann Hepatol 10:43-9. 2011
    ..The main objective of this study was to describe the profile of patients who were benefitted in a collective effort to perform liver biopsies in Bahia, Brazil...
  90. pmc Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II
    Shigeo Iijima
    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
    Yonsei Med J 52:369-72. 2011
    ..Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy...
  91. pmc Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives
    Philippe A Lysy
    Pediatric Hepatology and Cell Therapy, Universite Catholique de Louvain, Cliniques Saint Luc, 10 av Hippocrate, Brussels B 1200, Belgium
    World J Gastroenterol 14:3464-70. 2008
    ..We discuss the future developments of the technique and new emerging perspectives...
  92. ncbi A homozygous mutation in UGT1A1 exon 5 may be responsible for persistent hyperbilirubinemia in a Japanese girl with Gilbert's syndrome
    Taku Nakagawa
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
    Kobe J Med Sci 57:E26-31. 2011
    ..1456T>G), leading to the substitution of aspartate for tyrosine at position 486 of the UGT1A1 protein (p.Y486D). In conclusion, the homozygous mutation of UGT1A1 may be responsible for persistent hyperbilirubinemia in this patient...
  93. doi Generation of liver disease-specific induced pluripotent stem cells along with efficient differentiation to functional hepatocyte-like cells
    Arefeh Ghodsizadeh
    Department of Stem Cells and Developmental Biology, Royan Institute for Stem Cell Biology and Technology, ACECR, P O Box 19395 4644, Tehran, Iran
    Stem Cell Rev 6:622-32. 2010
    ..Our results provide proof of principal that human liver-disease specific iPSCs present an exciting potential venue toward cell-based therapeutics, drug metabolism, human liver development and disease models for liver failure disorders...
  94. pmc Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I
    H H van Es
    Division of Gastroenterology, Academic Medical Center, Amsterdam, The Netherlands
    J Clin Invest 85:1199-205. 1990
    ..Patient C showed a normal banding pattern and in patient D only the 53-kD band showed decreased intensity. These findings suggest considerable heterogeneity with regard to the expression of UDPGT isoenzymes among CN type I patients...
  95. ncbi Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease
    M Ciotti
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 9S 242, Bethesda, Maryland 20892 1830, USA
    Biochim Biophys Acta 1407:40-50. 1998
    ..e. paired with itself, as previously reported in the literature, it is far less repressive and generates the mild Gilbert's phenotype...
  96. ncbi Crigler-Najjar syndrome in Saudi Arabia
    H Nazer
    King Faisal Specialist Hospital and Research Center, Department of Pediatrics, Riyadh, Saudi Arabia
    Am J Med Genet 79:12-5. 1998
    ..One of our patients successfully underwent living-related segmental liver transplantation...
  97. ncbi Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes
    M Sampietro
    Dipartimento di Biomedicina dell Eta Evolutiva, Universita di Bari, Italy
    Haematologica 84:150-7. 1999
    ....
  98. ncbi A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene
    Y Maruo
    Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan
    Eur J Pediatr 158:547-9. 1999
    ....
  99. ncbi Liver irradiation: a potential preparative regimen for hepatocyte transplantation
    C Guha
    Department of Radiation Oncology, Albert Einstein College of Medicine, Bronx, NY 10467, USA
    Int J Radiat Oncol Biol Phys 49:451-7. 2001
    ..This strategy could be useful in the treatment of various genetic, metabolic, or malignant diseases of the liver...
  100. ncbi Understanding neonatal hyperbilirubinaemia in the era of genomics
    Jon F Watchko
    Division of Neonatology and Developmental Biology, Department of Pediatrics, University of Pittsburgh School of Medicine, Magee Womens Hospital, 300 Halket Street, Pittsburgh, Pennsylvania 15213, USA
    Semin Neonatol 7:143-52. 2002
    ..Expanded study using the tools of genomics will shed insights into the genetics of newborn jaundice and the pathogenesis of hyperbilirubinaemic encephalopathy...
  101. ncbi Heme degradation and human disease: diversity is the soul of life
    Shigeki Shibahara
    Department of Molecular Biology and Applied Physiology, Tohoku University School of Medicine, Aoba ku, Sendai, Miyagi 980 8575, Japan
    Antioxid Redox Signal 4:593-602. 2002
    ..Implications of such a variety are discussed in relevance to the pathogenesis of severe malaria caused by Plasmodium falciparum, the most ancient foe of humans...

Research Grants64

  1. MR Spectroscopy to Evaluate Liver Repopulation by Transplanted Hepatocytes
    Chandan Guha; Fiscal Year: 2009
    ..In this proposal we propose to develop a non -invasive MR Spectroscopic Imaging (MRSI) for the detection of transplanted hepatocytes expressing brain isozyme of cratine kinase (CK-B) as a transgene reporter. ..
  2. MR Spectroscopy to Evaluate Liver Repopulation by Transplanted Hepatocytes
    Chandan Guha; Fiscal Year: 2007
    ..In this proposal we propose to develop a non -invasive MR Spectroscopic Imaging (MRSI) for the detection of transplanted hepatocytes expressing brain isozyme of cratine kinase (CK-B) as a transgene reporter. ..
  3. MR Spectroscopy to Evaluate Liver Repopulation by Transplanted Hepatocytes
    Chandan Guha; Fiscal Year: 2010
    ..In this proposal we propose to develop a non -invasive MR Spectroscopic Imaging (MRSI) for the detection of transplanted hepatocytes expressing brain isozyme of cratine kinase (CK-B) as a transgene reporter. ..
  4. Bilirubin and Photobilirubin: Metabolism & Exretion
    Antony McDonagh; Fiscal Year: 2004
    ..The work will lead to safer more effective treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  5. Bilirubin and Photobilirubin: Metabolism & Excretion
    Antony McDonagh; Fiscal Year: 2003
    ..The work will lead to safer more effective treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  6. Bilirubin and Photobilirubin: Metabolism & Exretion
    Antony McDonagh; Fiscal Year: 2005
    ..The work will lead to safer more effective treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  7. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 1999
    ..The work will lead to safer and more effective methods for the treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  8. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 2001
    ..The work will lead to safer and more effective methods for the treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  9. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 2000
    ..The work will lead to safer and more effective methods for the treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  10. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 2002
    ..The work will lead to safer and more effective methods for the treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  11. INHERITED DISORDER OF HEPATIC BILIRUBIN GLUCURONIDATION
    Namita Roy Chowdhury; Fiscal Year: 1992
    ....
  12. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCURONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2000
    ....
  13. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCURONIDATION
    Namita Roy Chowdhury; Fiscal Year: 1999
    ....
  14. Neonatal Phototherapy / Bilirubin Excretion
    DAVID LIGHTNER; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  15. Neonatal Phototherapy / Bilirubin Excretion
    DAVID LIGHTNER; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  16. Neonatal Phototherapy / Bilirubin Excretion
    DAVID LIGHTNER; Fiscal Year: 2003
    ....
  17. Neonatal Phototherapy / Bilirubin Excretion
    DAVID LIGHTNER; Fiscal Year: 2005
    ....
  18. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 1993
    ..The development of liver-directed gene therapies in the Gunn rat should greatly facilitate subsequent application of these methods to the treatment of Crigler-Najjar syndrome, Type I and other inherited metabolic diseases of the liver...
  19. Neonatal Phototherapy / Bilirubin Excretion
    DAVID LIGHTNER; Fiscal Year: 2004
    ....
  20. UNDERSTANDING NEONATAL PHOTOTHERAPY/BILIRUBIN EXCRETION
    DAVID LIGHTNER; Fiscal Year: 2002
    ....
  21. UNDERSTANDING NEONATAL PHOTOTHERAPY/BILIRUBIN EXCRETION
    DAVID LIGHTNER; Fiscal Year: 2001
    ....
  22. UNDERSTANDING NEONATAL PHOTOTHERAPY/BILIRUBIN EXCRETION
    DAVID LIGHTNER; Fiscal Year: 2000
    ....
  23. UNDERSTANDING NEONATAL PHOTOTHERAPY/BILIRUBIN EXCRETION
    DAVID LIGHTNER; Fiscal Year: 1999
    ....
  24. MECHANISM OF BILE PIGMENT EXCRETION
    IRWIN ARIAS; Fiscal Year: 1992
    ..The goal is to define basic transport defects in these mutants...
  25. GENE EXPRESIION WITH ADENOVIRUS-MEDIATED TRANSFER
    Frederick Askari; Fiscal Year: 2001
    ..The results obtained in this model should prove valuable to the development of liver directed gene therapy for other genetic and acquired diseases. ..
  26. GENE EXPRESIION WITH ADENOVIRUS-MEDIATED TRANSFER
    Frederick Askari; Fiscal Year: 2000
    ..The results obtained in this model should prove valuable to the development of liver directed gene therapy for other genetic and acquired diseases. ..
  27. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 1992
    ..The work will lead to safer and more effective methods for the treatment of familial hyperbilirubinemia and jaundice in the newborn...
  28. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 1993
    ..The work will lead to safer and more effective methods for the treatment of familial hyperbilirubinemia and jaundice in the newborn...
  29. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2006
    ..abstract_text> ..
  30. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2005
    ..abstract_text> ..
  31. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2003
    ..abstract_text> ..
  32. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2004
    ..abstract_text> ..
  33. IMMUNE RESPONSE TO ADENOVIRAL GENE TRANSFER
    Frederick Askari; Fiscal Year: 1999
    ..The results obtained in this model should prove valuable to the development of liver directed gene therapy for other genetic and acquired diseases. ..
  34. IMMUNE RESPONSE TO ADENOVIRAL GENE TRANSFER
    Frederick Askari; Fiscal Year: 2000
    ..The results obtained in this model should prove valuable to the development of liver directed gene therapy for other genetic and acquired diseases. ..
  35. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 1990
    ..The results will lead to safer and more effective phototherapy methods for the treatment of neonatal jaundice and congenital unconjugated hyperbilirubinemia...
  36. BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETION
    Antony McDonagh; Fiscal Year: 1991
    ..The results will lead to safer and more effective phototherapy methods for the treatment of neonatal jaundice and congenital unconjugated hyperbilirubinemia...
  37. INHERITED DISORDERS OF BILIRUBIN GLUCURONIDATION
    Jayanta Roy Chowdhury; Fiscal Year: 1990
    ....
  38. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2000
    ..Successful completion of these studies will provide a basis for gene therapies for CN-I and other inherited metabolic disorders, such as deficiency of alpha1-antitrypsin and urea cycle enzymes. ..
  39. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2001
    ..Successful completion of these studies will provide a basis for gene therapies for CN-I and other inherited metabolic disorders, such as deficiency of alpha1-antitrypsin and urea cycle enzymes. ..
  40. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 1999
    ..Successful completion of these studies will provide a basis for gene therapies for CN-I and other inherited metabolic disorders, such as deficiency of alpha1-antitrypsin and urea cycle enzymes. ..
  41. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2002
    ..Successful completion of these studies will provide a basis for gene therapies for CN-I and other inherited metabolic disorders, such as deficiency of alpha1-antitrypsin and urea cycle enzymes. ..
  42. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2002
    ..Successful completion of these studies will provide a basis for gene therapies for CN-I and other inherited metabolic disorders, such as deficiency of alpha1-antitrypsin and urea cycle enzymes. ..
  43. HDAd-mediated gene therapy for hemophilia B
    Nicola Brunetti Pierri; Fiscal Year: 2009
    ..abstract_text> ..
  44. Viral Immunoregulatory Genes and Hepatocyte Transplants
    Jayanta Roy Chowdhury; Fiscal Year: 2005
    ..The lentivirus technology also will allow us to use primary hepatocytes to assess their efficacy in reconstituting normal bilirubin processing in the liver. ..
  45. Viral Immunoregulatory Genes and Hepatocyte Transplants
    Jayanta Roy Chowdhury; Fiscal Year: 2006
    ..The lentivirus technology also will allow us to use primary hepatocytes to assess their efficacy in reconstituting normal bilirubin processing in the liver. ..
  46. Viral Immunoregulatory Genes and Hepatocyte Transplants
    Jayanta Roy Chowdhury; Fiscal Year: 2007
    ..The lentivirus technology also will allow us to use primary hepatocytes to assess their efficacy in reconstituting normal bilirubin processing in the liver. ..
  47. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2007
    ..abstract_text> ..
  48. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2005
    ..abstract_text> ..
  49. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2006
    ..abstract_text> ..
  50. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2003
    ..abstract_text> ..
  51. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2004
    ..abstract_text> ..
  52. CONTROL HYPERBILIRUBINEMIA IN CRIGLER/NAJJAR SYNDROME
    ATALLAH KAPPAS; Fiscal Year: 2000
    ..abstract_text> ..
  53. DEFECTS OF DRUG METABOLISM IN LABORATORY ANIMALS
    Michael Court; Fiscal Year: 1999
    ....
  54. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2005
    ..abstract_text> ..
  55. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 1999
    ..abstract_text> ..
  56. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2001
    ..abstract_text> ..
  57. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2002
    ..abstract_text> ..
  58. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2004
    ..abstract_text> ..
  59. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2007
    ..abstract_text> ..