crigler najjar syndrome
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.
Publications126 found, 100 shown here
- Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlationVeronica Servedio
Laboratory of Molecular Medicine, University of Foggia, Italy
Hum Mutat 25:325. 2005....
- [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..In the case of Gilbert syndrome two bases are inserted into the promoter of the gene. In Crigler-Najjar syndrome type I and II mutations lead to the exchange of amino acids, changes of the reading frame or to stop codons...
- Immune response to lentiviral bilirubin UDP-glucuronosyltransferase gene transfer in fetal and neonatal ratsJ 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...
- [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...
- 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 syndromeN 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...
- Gene therapy for inherited hyperbilirubinemiasN 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...
- [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
- 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 kernicterusA Kadakol
J Med Genet 38:244-9. 2001
- Adeno-associated virus vector serotypes mediate sustained correction of bilirubin UDP glucuronosyltransferase deficiency in ratsJurgen 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...
- Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromesElisio 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...
- A novel strategy for in vivo expansion of transplanted hepatocytes using preparative hepatic irradiation and FasL-induced hepatocellular apoptosisM 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...
- Therapeutic lentivirus-mediated neonatal in vivo gene therapy in hyperbilirubinemic Gunn ratsTuan 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...
- 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 ratsZhen 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...
- The effect of zinc salts on serum bilirubin levels in hyperbilirubinemic ratsLibor 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...
- Vigintiphobia revisitedJon 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....
- Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndromeFrançois 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...
- Molecular genetics of unconjugated hyperbilirubinemia in TaiwaneseChing 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...
- Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 casesF M Petit
Clin Genet 66:571-2. 2004
- Successful gene therapy of the Gunn rat by in vivo neonatal hepatic gene transfer using murine oncoretroviral vectorsMarta Bellodi-Privato
, INSERM CIC 04, , 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...
- [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...
- Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type IM L Kulkarni
Indian Pediatr 40:1209-10. 2003
- [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...
- Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotypeA 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...
- Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type IP 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...
- Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in manP 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...
- A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type IIJ 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...
- Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferaseJ 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...
- Genetic factors in neonatal hyperbilirubinemia and kernicterusS 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...
- Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancyW S Lee
Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
Arch Dis Child 85:38-42. 2001....
- Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substratesWandee Udomuksorn
Department of Clinical Pharmacology, Flinders University and Flinders Medical Centre, Adelaide, South Australia, Australia
Pharmacogenet Genomics 17:1017-29. 2007....
- Involvement of UDP-glucuronosyltransferase activity in irinotecan-induced delayed-onset diarrhea in ratsMasaharu 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...
- Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I diseaseNghia 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...
- Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type IIYeon Seok Seo
Scand J Gastroenterol 42:540-1. 2007
- Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemiaAgnese Marrone
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...
- Case of the month. Chronic hepatitisAudrey Griffin
Wichita State University, Physician Assistant Program, Wichita, Kansas, USA
JAAPA 19:70. 2006
- Crigler-Najjar syndrome type 2Ching-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...
- Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from SlovakiaI 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)...
- Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemiaA 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...
- The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndromeP 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...
- Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type IIS 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...
- Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase geneY 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. Patients and..
- Ex vivo lentivirus transduction and immediate transplantation of uncultured hepatocytes for treating hyperbilirubinemic Gunn ratTuan 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)...
- Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian populationSurini 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...
- Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectorsDavid Dimmock
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Gene Ther 22:483-8. 2011....
- Effects of luminal nutrients and small bowel transplants on congenital indirect hyperbilirubinemiaA 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...
- Hepatic transport of serum bilirubin, bromsulfophthalein, and indocyanine green in patients with congenital non-hemolytic hyperbilirubinemia and patients with constitutional indocyanine green excretory defectM 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...
- Hepatocyte transplantation for liver-based metabolic disordersAnil 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...
- Linkage disequilibrium of UGT1A1 *6 and UGT1A1 *28 in relation to UGT1A6 and UGT1A7 polymorphismsNaohito 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 ..
- 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....
- Liver after hepatocyte transplantation for liver-based metabolic disorders in childrenAlberto 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...
- Total knee arthroplasty and Crigler-Najjar syndrome: a case reportDavid 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...
- The hereditary hyperbilirubinaemiasM 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...
- Evolution of the activity of UGT1A1 throughout the development and adult life in a ratN 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...
- Living donor liver transplantation for pediatric patients with inheritable metabolic disordersDaisuke 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...
- Isolation of hepatocytes from livers from non-heart-beating donors for cell transplantationRobin 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...
- Assessment of UGT polymorphisms and neonatal jaundiceMark 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...
- [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...
- Monitoring of intraportal liver cell application in childrenJochen 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...
- Biochemical and molecular aspects of genetic disorders of bilirubin metabolismT 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...
- Liver cell transplantation in childrenJochen 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...
- [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...
- [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...
- Review of hepatocyte transplantationMasahiro Ito
Department of Surgery, Fujita Health University, Toyoake, Aichi, Japan
J Hepatobiliary Pancreat Surg 16:97-100. 2009....
- Therapeutic application of chimeric RNA/DNA oligonucleotide based gene therapyL 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...
- 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 vectorsJacques 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...
- Crigler-Najjar syndrome: treatment at home with phototherapyR Dixon
Department of Paediatrics, Western General Hospital, Edinburgh
Scott Med J 33:335-6. 1988..A diagnosis of Crigler Najjar type 1 syndrome was made by exclusion and confirmed by liver biopsy. The infant has been successfully treated at home with phototherapy. Liver transplantation remains a therapeutic option...
- Small animal models of hepatocyte transplantationJurgen 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...
- Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectivesPhilippe 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...
- Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndromeS Aono
Department of Perinatology, Institute of Developmental Research, Aichi, Japan
Lancet 345:958-9. 1995..All ten relatives with mild hyperbilirubinaemia were heterozygotes with respect to each defective allele. These results suggest that Gilbert's syndrome is inherited as a dominant trait...
- Hepatic repopulation with stably transduced conditionally immortalized hepatocytes in the Gunn ratYujo 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....
- Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitroL T Erps
Department of Biochemistry, School of Medicine, University of Louisville, Kentucky 40292
J Clin Invest 93:564-70. 1994..These results suggest that the two codons, located in conserved regions of the molecule, are part of the active site of the bilirubin enzyme...
- The Tunisian population history through the Crigler-Najjar type I syndromeFrançois 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...
- A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type IS Aono
Department of Perinatology, Institute for Developmental Research, Aichi Prefecture Colony, Japan
Pediatr Res 35:629-32. 1994..Our results suggest that a homozygous nonsense or deletion mutation is detected not only in the exons common to UGT1A and UGT1D genes but also in unique exon 1 of UGT1A in CN type I...
- Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 casesP Labrune
Unité de Recherche sur les Handicaps Génétiques de l Enfant, INSERM U393, Hopital des Enfants Malades, Paris, France
Hum Genet 94:693-7. 1994..The present study confirms that CN-I is genetically heterogeneous and suggests that different founder effects are involved in Western Europe, the Middle East, and North Africa...
- The glucuronidation of exogenous and endogenous compounds by stably expressed rat and human UDP-glucuronosyltransferase 1.1C D King
Department of Pharmacology, University of Iowa, Iowa City 52242, USA
Arch Biochem Biophys 332:92-100. 1996..1 catalyzed the glucuronidation of amines, monoterpenoid alcohols, androgens, or progestins. In general, these data indicate that rat and human UGT1.1 are functionally identical and can be considered orthologous enzymes...
- Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genesYuan 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...
- Long-term reduction of jaundice in Gunn rats by nonviral liver-targeted delivery of Sleeping Beauty transposonXia Wang
Department of Medicine, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx 10461, NY, USA
Hepatology 50:815-24. 2009..No antibodies were detectable in the recipient rats against the F-protein or human UGT1A1. Conclusion: FPL is an efficient hepatocyte-targeted gene delivery platform in vivo that warrants further exploration toward clinical application...
- Hepatocytes immobilised by microencapsulation in artificial cells: effects on hyperbilirubinemia in Gunn ratsS Bruni
Artificial Cells and Organs Research Centre, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
Biomater Artif Cells Artif Organs 17:403-11. 1989..After encapsulation, Sprague-Dawley hepatocytes were as effective as free hepatocytes in lowering bilirubin levels in Gunn rats. After 68 days, the free Sprague-Dawley hepatocytes were not rejected...
- Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type IIShigeo 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...
- Epidemiological assessment of liver disease in northeastern Brazil by means of a standardized liver biopsy protocolLucas 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...
- Mycophenolate mofetil impairs transduction of single-stranded adeno-associated viral vectorsPaula 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...
- Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type IH 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...
- 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...
- Generation of liver disease-specific induced pluripotent stem cells along with efficient differentiation to functional hepatocyte-like cellsArefeh 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...
- [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. 2010b>Crigler Najjar syndrome type II is related to a defect of bilirubin conjugation due to partial deficiency of the enzyme uridine diphosphate-glucuronyl transferase...
- Lentiviral vectors that express UGT1A1 in liver and contain miR-142 target sequences normalize hyperbilirubinemia in Gunn ratsFrançoise 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...
- 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...
- Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutantsNina Sneitz
Centre for Drug Research, University of Helsinki, Finland
Hum Mutat 31:52-9. 2010....
- Functional characterization of hepatocytes for cell transplantation: customized cell preparation for each receptorA 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...
- Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literatureV 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...
- A homozygous mutation in UGT1A1 exon 5 may be responsible for persistent hyperbilirubinemia in a Japanese girl with Gilbert's syndromeTaku 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...
- [Relationship between bilirubin UDP-glucuronosyl transferase polymorphism and neonatal jaundice]Bin Sha
Zhongguo Dang Dai Er Ke Za Zhi 9:510-3. 2007
- Critical assessment of lifelong phenotype correction in hyperbilirubinemic Gunn rats after retroviral mediated gene transferT H Nguyen
INSERM, CIC 04, Biothérapies Hépatiques, CHU Hotel Dieu, Nantes, France
Gene Ther 14:1270-7. 2007..They offer a better delineation of liver gene correction level required to achieve complete correction of bilirubinemia and pave the way for future clinical application of gene therapy for inherited liver disorders...
- Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP)Jeanne Francoual
Laboratoire de Biochimie, , 92141 Clamart Cedex, France
Prenat Diagn 22:914-6. 2002..SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis...
- Inherited disorders of bilirubin metabolismPiter Jabik Bosma
AMC Liver Centre, S1-168, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
J Hepatol 38:107-17. 2003
- Congenital nonhemolytic hyperbilirubinemiasHalina Cichoz Lach
Department of Gastroenterology, Skubiszewski Medical University of Lublin
Ann Univ Mariae Curie Sklodowska Med 59:449-52. 2004..In present, CNH are treated as cosmetic defects and no therapy is applied...
- Isolated hepatocyte transplantation in an infant with a severe urea cycle disorderSimon P Horslen
Section of Pediatric Gastroenterology, University of Nebraska Medical Center, Omaha, Nebraska 68198 3285, USA
Pediatrics 111:1262-7. 2003....
- Overcoming the portal steal phenomenon in auxiliary partial orthotopic liver transplantation by modulation of the venous outflow of the native liverDieter C Broering
Department of Hepatobiliary Surgery and Transplantation, University Hospital of Hamburg Eppendorf, Germany
Liver Transpl 11:1140-3. 2005..This new surgical technique could encourage centers to recommence APOLT...
- Removal of protein-bound and unbound unconjugated bilirubin by perfusion of plasma through an anion-exchange resin in a case of Crigler-Najjar syndrome type IHiroshi Ihara
Department of Laboratory Medicine, Toho University School of Medicine, 2 17 6 Ohashi, Meguro, Tokyo 1538515, Japan
Ann Clin Biochem 40:528-33. 2003....
- Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndromeY Maruo
Department of Pediatrics, Shiga University of Medical Science, Seta, Otsu, Japan
Clin Genet 64:420-3. 2003..The results also suggest the importance of the accumulation of prevalent or polymorphic mutation in the etiology of Gilbert's syndrome and Crigler-Najjar syndrome type II...
- Hepatocyte transplantationIra J Fox
Department of Surgery, University of Nebraska Medical Center, Omaha, NE, USA
Am J Transplant 4:7-13. 2004....
- MR Spectroscopy to Evaluate Liver Repopulation by Transplanted HepatocytesChandan 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. ..
- Bilirubin and Photobilirubin: Metabolism & ExretionAntony McDonagh; Fiscal Year: 2005..The work will lead to safer more effective treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
- BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETIONAntony 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. ..
- Neonatal Phototherapy / Bilirubin ExcretionDAVID LIGHTNER; Fiscal Year: 2007....
- GENE THERAPY FOR INHERITED JAUNDICEJayanta 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...
- UNDERSTANDING NEONATAL PHOTOTHERAPY/BILIRUBIN EXCRETIONDAVID LIGHTNER; Fiscal Year: 2002....
- BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETIONAntony 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...
- BILIRUBIN AND PHOTOBILIRUBIN/METABOLISM AND EXCRETIONAntony 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...
- GENE THERAPY FOR INHERITED JAUNDICEJayanta 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. ..
- Viral Immunoregulatory Genes and Hepatocyte TransplantsJayanta 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. ..
- GENE THERAPY FOR INHERITED JAUNDICEJayanta Roy Chowdhury; Fiscal Year: 2007..abstract_text> ..
- NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEINJon Watchko; Fiscal Year: 2002..abstract_text> ..
- NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEINJon Watchko; Fiscal Year: 2007..abstract_text> ..