Health Library Find Information On Crigler-Najjar Syndrome At criglernajjar syndrome. Definition Causes, incidence, and risk factorscrigler-najjar syndrome is inherited as an autosomal recessive trait. http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns
Liver Condions criglernajjar syndrome crigler-najjar syndrome, Medical Encyclopedia; Crigler-NajjarAssociation, Kings Way Foundation, Wichita, KS, includes Links to http://www.kumc.edu/gec/support/liver.html
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Extractions: Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Disease Injury Nutrition Poison ... Z Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions. Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop
Crigler-Najjar Syndrome criglernajjar syndrome. Glucuronyl transferase deficiency (type I); Ariassyndrome (type II Crigler-Najjar). Causes, incidence, and risk factors http://www.umm.edu/ency/article/001127.htm
Extractions: Toggle English Spanish Overview Symptoms Treatment Prevention Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions. Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop
Directory :: Look.com criglernajjar syndrome (6) See Also. Sites. Austin Health Information An overviewof crigler-najjar syndrome including symptoms, treatment and prevention. http://www.look.com/searchroute/directorysearch.asp?p=521033
Dr. Namita Roy-Chowdhury A near complete deficiency of the enzyme results in the potentially lethal disorder,criglernajjar syndrome type I (CN-1). Incomplete loss of the enzyme http://www.aecom.yu.edu/liver/Facultyresearch/nroychowdhury.htm
Extractions: Department of Molecular Genetics Inherited Disorders of Bilirubin Glucuronidation Glucuronidation is essential for hepatic excretion of bilirubin, the toxic end product of heme catabolism. Bilirubin glucuronidation is catalyzed by specific isoforms of a family of UDP-glucuronosyltransferase (UGT), particularly by one form, B-UGT1. B-UGT1 and at least three other UGT isoforms are expressed from a gene with unique organization, ugt1. Four consecutive exons at the 3' domain of the gene are used in all isoforms expressed from these genes, and encode the carboxy terminal region of the enzymes that are identical in all isoforms. Upstream to these is a series of unique exons, only one of which is used in a specific UGT isoform. Each unique region exon encodes the variable NH2 terminal domain of one UGT isoform that imparts aglycone substrate specificity to the isoform. The unique region exons are driven by independent 5' promoters and are therefore capable of independent regulation. Three grades of inherited B-UGT1 deficiency lead to three syndromes in humans, all of which are characterized by unconjugated hyperbilirubinemia. A near complete deficiency of the enzyme results in the potentially lethal disorder, Crigler-Najjar syndrome type I (CN-1). Incomplete loss of the enzyme activity causes Crigler-Najjar syndrome type II (CN-II). Milder forms of B-UGT deficiency cause the common benign disorder, Gilbert syndrome. Our laboratory is pursuing two related areas of research. One involves the correlation of molecular structure and catalytic function of B-UGT1. The second is aimed at characterization of the mechanism of regulation of ugt1 gene expression.
Untitled the Company's gene repair technology, termed chimeraplasty, to permanently correcta gene defect in the Gunn rat model of criglernajjar syndrome type I. The http://www.ahc.umn.edu/NewsAlert/Sep99/090199NewsAlert/32867.htm
Extractions: NEWTOWN, Pa., Aug. 30 /PRNewswire/ Kimeragen, Inc. today announced that researchers at the University of Minnesota (Minneapolis) and Albert Einstein College of Medicine (New York) have utilized the Company's gene repair technology, termed chimeraplasty, to permanently correct a gene defect in the Gunn rat model of Crigler-Najjar syndrome type I. The results of this study are reported in the current issue of the Proceedings of the National Academy of Sciences. "To my knowledge this is the first report that a disease based in a gene has been permanently corrected by the intravenous infusion of a drug," remarked Clifford J. Steer, M.D., Professor of Medicine and Cell Biology at the University of Minnesota Medical Center and lead investigator of the study.
Untitled of Medicine conducted the experiment, which was to repair the genetic code of ratssuffering from the rodent equivalent of criglernajjar syndrome I. To fix http://www.ahc.umn.edu/NewsAlert/Sep99/090399NewsAlert/33003.htm
Extractions: A team of researchers say they have for the first time succeeded in permanently correcting a genetic defect in a living animal using a new and provocative technology. Their results were published in the Aug. 31 issue of the Proceedings of the National Academy of Science. Medical experts heralded the study as an important step forward in the field of gene therapy. The hope is that genes can be delivered much like drugs to cure inherited disorders. Researchers from the University of Minnesota Medical School and the Albert Einstein College of Medicine conducted the experiment, which was to repair the genetic code of rats suffering from the rodent equivalent of Crigler-Najjar syndrome I. To fix the defect, they used an approach called chimeraplasty, which was developed at a small biotech company in Newtown, Pa., called Kimeragen.
MOLECULAR GENETICS FACULTY genetic lesions of any one of the five exons encoding UGT1A1 can abolish or reduceBUGT activity, causing potentially lethal crigler-najjar syndrome type I (CN http://sequence.aecom.yu.edu/molgen/faculty/namita.html
Extractions: UDP-glucuronosyltransferases (UGT) are a family of enzymes concentrated in the hepatic endoplasmic reticulum, that mediate the glucuronidation of many endogenous and foreign substances. Several independently regulated UGT isoforms are expressed from the human UGT1A locus, of which, UGT1A1 mediates bilirubin glucuronidation, which is critical for biliary excretion of this toxic pigment. We have shown that genetic lesions of any one of the five exons encoding UGT1A1 can abolish or reduce B-UGT activity, causing potentially lethal Crigler-Najjar syndrome type I (CN-I), or its less severe variant, Crigler-Najjar syndrome type II (CN-II). We also showed that Gilbert syndrome, a milder form of UGT1A1 deficiency, is associated with a variant TATAA element 5' to the first exon of UGT1A1. This genotype may also be related to severe neonatal jaundice. Current projects and recent findings are briefly summarized below: Mechanism of the regulation of expression of the UGT1A1 gene: As each UGT isoform is differentially regulated, we expected to find cis-regulatory elements upstream to the unique region exons. A 2-kb region 5' to exon 1 of UGT1A1 revealed an unusually long TATAA element [A(TA)6 TAA] 29 nt upstream to the translation initiation site, that serves as the basal promoter. Our subsequent studies showed that an insertion of two additional nucleotides in this promoter is associated with Gilbert syndrome (reduced expression of structurally normal UGT1A1. In addition, a series of putative regulatory elements have been identified. The function of these elements is being elucidated.
MOLECULAR GENETICS FACULTY this work has been translated into the first successful hepatocyte allotransplantationin humans for the amelioration of a criglernajjar syndrome type I. We http://sequence.aecom.yu.edu/molgen/faculty/chowdhury.html
Extractions: chowdhur@aecom.yu.edu Hepatocyte Transplantation and Liver-Directed Gene Therapy During the past seven years, liver-directed cell therapy and gene therapy for inherited metabolic disorders has progressed from a rudimentary concept to a point where successful clinical application appears to be in sight. We have pursued several approaches for liver-directed gene therapy, which are: 1. Hepatocyte-based gene transfer to the liver, 2. Recombinant virus-mediated gene transfer in vivo; and 3. Oligonucleotide-mediated site-directed gene repair in vivo. Subproject 1. Hepatocyte-based gene transfer to the liver. First, to increase the availability of transplantable human hepatocytes, we are developing conditionally immortalized human hepatocytes that can be expanded in culture, but not after transplantation. Second, methods are being developed for abrogating rejection of allografted hepatocytes by modulating the recipient's immune system by gene transfer. Third, we are exploring methods for inducing preferential proliferation of the transplanted hepatocytes for eventual repopulation of the host liver with donor cells. Recently, this work has been translated into the first successful hepatocyte allotransplantation in humans for the amelioration of a Crigler-Najjar syndrome type I. We have also transplanted human hepatocyte successfully in mice to generate a small animal model for hepatitis B viral infection and replication. Subproject 3. Site-specific gene repair. The newest technique in liver-directed gene therapy is oligonucleotide-mediated site-directed gene repair. In this method, a specially designed oligonucleotide is introduced into the liver in vivo, using receptor-mediated gene delivery. The oligonucleotide is designed to hybridize to the genomic DNA and generate a single-base mis-pairing. The mis-pairing triggers the cell's mismatch repair enzyme system, thereby correcting an inherited mutation. We have used this method to correct the genetic and metabolic defect in UDP-glucuronosyltransferase-deficient jaundiced Gunn rats.
Extractions: Synonyms, Key Words, and Related Terms: CNS, Crigler-Najjar disease, Gilbert syndrome, Arias syndrome, congenital nonhemolytic jaundice, neonatal jaundice, inherited unconjugated hyperbilirubinemias, uridine diphosphate glycosyltransferase, UGT, kernicterus, bilirubin encephalopathy, plasma exchange transfusion Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Alessio Pigazzi, MD, PhD , Staff Physician, Department of General Surgery, New York Presbyterian Hospital Coauthored by Stefano Ravalli, MD , Assistant Professor, Department of Medicine, Division of Cardiology, Columbia University College of Physicians and Surgeons Edited by Tushar Patel, MD Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, eMedicine; BS Anand, MD , Professor, Department of Internal Medicine, Division of Gastroenterology, Baylor University College of Medicine; Alex J Mechaber, MD, FACP , Associate Director of Generalist Primary Care Clerkship, Assistant Professor, Department of Internal Medicine, Division of General Internal Medicine, University of Miami School of Medicine; and
Mioti: Medical Condition Condition Crigler Najjar Syndrome. MEDLINEplus criglernajjar syndrome.MEDLINEplus NORD Crigler Najjar Syndrome Type I. Information http://www.mioti.com/cat/condition/condition.asp?Cat=CriglerNajjar
Member Sign In Applications Of AdenovirusBased Gene Therapy. Hereditary Disorderscrigler-najjar syndrome Type 1. crigler-najjar syndrome type 1 http://www.medscape.com/viewarticle/416599_7
Gene Repair In Rats Raises Hope termed chimeraplasty , researchers have, for the first time, successfully repairedthe genetic defect associated with criglernajjar syndrome, a rare but http://www.vhl.org/newsletter/vhl2000/00airats.htm
Extractions: to improve diagnosis, treatment, and quality of life for people affected by von Hippel-Lindau disease. By Penny Stern M.D., Reuters Health As you read in the press about advances in gene repair, look for advancement of knowledge about the technology. Once there are good vehicles for delivery of repair information to all cells, then the possibility of repair of the VHL gene is more likely. Through the use of a novel technique termed "chimeraplasty", researchers have, for the first time, successfully repaired the genetic defect associated with Crigler-Najjar syndrome, a rare but devastating liver disease, in lab rats. The finding may lead to gene therapies that cure other genetic diseases such as hemophilia, sickle cell anemia, [and von Hippel-Lindau disease,] according to the report published in the Proceedings of the National Academy of Sciences.
Crigler-Najjar Syndrome criglernajjar syndrome. A Medical Medical System. A resource with informationon over 4000 medical topics including crigler-najjar syndrome. http://www.bloodandmarrowtransplant.com/medical-terms/02959.htm
SpringerLink: Medizinische Klinik - Abstract Volume 97 Issue 9 (2002) Pp 528-532 Translate this page crigler-najjar syndrome II leads to a more serious kind of hyperbilirubinemia. KeyWords Morbus Gilbert · crigler-najjar syndrome · UGT1A1 gene locus. http://link.springer-ny.com/link/service/journals/00063/bibs/2097009/20970528.ht
Extractions: Zusammenfassung. Hintergrund: Molekulargenetischer Wissensstand: Schlussfolgerung: Abstract. Background: Gilbert syndrome and the Crigler-Najjar syndromes Type I and II are disorders of bilirubin conjugation with consecutive indirect hyperbilirubinemia of different severity. Morbus Gilbert is a mild hyperbilirubinemia, which is only of significance in case of drug therapy or differential diagnosis. 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. Molecular Genetics: The molecular defects of these three syndromes have been characterized during the last decade. They are caused by mutations in the UGT1A1 gene locus. This locus codes for the enzyme bilirubin uridine 5'-diphosphate-(UDP-)glucuronosyltransferase (UGT1A1). 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.
ThirdAge - Adam - Crigler-Najjar Syndrome criglernajjar syndrome. Alternative Names Glucuronyl transferasedeficiency (type I A family history of crigler-najjar syndrome. http://www.thirdage.com/health/adam/ency/article/001127sym.htm
Extractions: document.write(''); document.write(''); document.write(''); document.write(''); document.write(''); document.write(''); document.write(''); document.write(''); Activities Computers Family Tree Health ... Prevention Alternative Names: Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar)
