61. Crigler-Najjar Disease criglernajjar syndrome a disease caused by a single base deletion in the gene for For more information on crigler-najjar syndrome, follow these links http://www.bio.davidson.edu/courses/Molbio/MolStudents/spring2000/roberts/Pages/

This web page was produced as an assignment for an undergraduate course at Davidson College. Crigler-Najjar Syndrome Crigler-Najjar Syndrome a disease caused by a single base deletion in the gene for a liver enzyme that metabolizes bilirubin ( ). Therefore, the body fails to break down bilirubin (a yellow pigment), which accumulates to toxic levels ( ). Therefore, the patient becomes juandiced and must spend up to 16 hours a day under blue lights to break down the pigment. Crigler-Najjar disease is fatal if untreated, and liver transplant is the only known cure ( For more information on Crigler-Najjar Syndrome, follow these links: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?218800 http://www.icondata.com/health/pedbase/files/CRIGLER-.HTM Return to "Uses of Chimeraplasty" Return to the Molecular Biology Homepage Send comments, questions, and suggestions to: luroberts@davidson.edu

62. Pharmacogenetics And Genomics - UserLogin However, criglernajjar syndrome is rarely reported in Chinese. Family studyfor the patient suffering from crigler-najjar syndrome type II. aSerum http://www.jpharmacogenetics.com/pt/re/pharmgen/fulltext.00008571-200110000-0001

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63. Transplantation - UserLogin criglernajjar syndrome type 1 (CNS1) is an autosomal recessive genetic disorder Split liver transplantation of two brothers for crigler-najjar syndrome http://www.transplantjournal.com/pt/re/transplantation/fulltext.00007890-2002011

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64. Journal Of Pediatric Gastroenterology And Nutrition - Fulltext: Volume 37(5) Nov criglernajjar syndrome type 1 is a severe form of hereditary unconjugatedhyperbilirubinemia caused by mutations in the bilirubin http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200311000-00024.htm

65. Indian Pediatrics - Editorial criglernajjar syndrome type-1 (CNS-I) is a potentially lethal disorder However, differentiating crigler-najjar syndrome type I from type II solely on http://www.indianpediatrics.net/dec2003/dec-1209-1210.htm

Home Past Issue About IP About IAP ... Subscription Letters to the Editor Indian Pediatrics 2003; 40:1209-1210 Persistant Unconjugated Hyperbilirubinemia in an Infant with Crigler-Najjar Syndrome Type I A 6-month-old baby born to a consanguineously married couple, presented with jaundice since day 3 of life (total biluribin of 22.6 mg/dL with indirect fraction of 21.8 mg/dL) along with abnormal movements in the form of stiffening of limbs and arching of body. Review of medical records showed no features suggestive of hemolysis, liver cell failure, hypothyroid state and breast milk jaundice. Trial of phenobarbitone therapy was also found to be ineffective in bringing down bilirubin levels. Now at 6 months of age, with regular home phototherapy for the past 5 months, baby weighed 5 kg and was irritable. Develop-mental history revealed delayed attainment of milestones with social smile at 5 months and partial head control at 6 months. Examination revealed deep icterus with staining of palms and soles and signs of kernicterus. Routine blood and urine tests were normal. Serum bilirubin was 25 mg/dL (indirect fraction of 23.8 mg/dL) and other liver function tests were normal. A screening for TORCH infection was negative. A second trial of phenobarbitone therapy was also in- effective. M.L. Kulkarni

66. Blackwell Synergy - Cookie Absent Genetic heterogeneity of criglernajjar syndrome type I a study of 14 cases.Hum Genet 1994 94 693 -700. 7. Francoual J, Trioche P, Mokrani C et al. http://www.blackwell-synergy.com/doi/abs/10.1111/j.1399-0004.2004.00371.x

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67. Statesman.com criglernajjar syndrome is inherited as an autosomal recessive trait. Parents whoare carriers of this condition have about half the normal enzyme activity http://www.statesman.com/health/healthfd/shared/health/adam/ency/article/001127.

@import url(http://alt.coxnewsweb.com/statesman/css/display_template_more.css); /*Adds styles that break page in NN 4.78.*/ var cxType = ""; Home Page Site Map Search Last 7 Days ... Log in Search Site/Web Yellow Pages Classifieds Jobs Cars Homes ... Advertise With Us Resources Customer Service Archives Corrections Member Center ... For Sale E-MAIL THIS PAGE MOST E-MAILED ARTICLES Illustrated Health Encyclopedia Important notice Ency. home Disease C Crigler-Najjar syndrome Overview Symptoms Treatment Prevention Alternative names: Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar) Definition: Crigler-Najjar syndrome is an inherited disorder of bilirubin metabolism in which bilirubin cannot be changed into its water-soluble form, bilirubin glucuronide. This is caused by abnormal genes which fail to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result of the defect, bilirubin can build up in the body causing organs to not work properly and jaundice (a yellow discoloration of the skin and eyes because bilirubin is yellow colored). Causes and Risks Crigler-Najjar syndrome is inherited as an autosomal recessive trait. Parents who are carriers of this condition have about half the normal

68. Metabolic Genetic Conditions criglernajjar syndrome, cystinosis, diabetes insipidus, Fabry, Crigler NajjarSyndrome, links to resources, web page from Italy (in English) http://www.kumc.edu/gec/support/metaboli.html

Metabolic Conditions Includes: aspartylglusomarinuria, biotinidase deficiency , carbohydrate deficient glycoprotein syndrome (CDGS), Crigler-Najjar syndrome , cystinosis, diabetes insipidus, Fabry fatty acid metabolism disorders galactosemia , Gaucher, glucose-6-phosphate dehydrogenase (G6PD), glutaric aciduria , Hurler, Hurler-Scheie, Hunter, hypophosphatemia, I-cell, Krabbe , lactic acidosis, long chain 3 hydroxyacyl CoA dehydrogenase deficiency (LCHAD), lysosomal storage diseases, mannosidosis maple syrup urine , Maroteaux-Lamy, metachromatic leukodystrophy, mitochondrial , Morquio, mucopolysaccharidosis , neuro-metabolic, Niemann-Pick, organic acidemias , purine, phenylketonuria (PKU) , Pompe, porphyria , pseudo-Hurler, pyruvate dehydrogenase deficiency, Sandhoff, Sanfilippo, Scheie, Sly, Tay-Sachs, trimethylaminuria (Fish-Malodor syndrome) urea cycle conditions , vitamin D deficiency rickets Association for Neuro-Metabolic Disorders 5223 Brookfield Lane Sylvania, OH 43560-1809 Phone: (419) 885-1497 E-mail: volk4olks@aol.com

69. Liver Condions criglernajjar syndrome. crigler-najjar syndrome, Medical Encyclopedia;Crigler-Najjar Association, King’s Way Foundation, Wichita, KS, includes Links to http://www.kumc.edu/gec/support/liver.html

Liver Conditions (Biliary Atresia, Alagille Syndrome, Alpha-1 Antitrypsin, Tyrosinemia, Neonatal Hepatitis, Wilson Disease) American Liver Foundation Web Page: http://www.liverfoundation.org/ Liver Health , conditions, pamphlets, American Liver Foundation United Liver Association 11646 West Pico Boulevard Los Angeles, CA 90064-2987 Phone: (310) 445-4204 Fax: (310) 575-3871 , Australia 23 Dirkala Street Mansfield Qld 4122, Australia Phone/Fax: +61 7 3219 2864 Email: cla@liverkids.org.au Web site: http://www.liverkids.org.au/ Tyrosinemia Hereditary tyrosinemia , American Liver Foundation Hereditary tyrosinemia , Children's Liver Alliance Tyrosinemia Information , community group on MSN Overview of tyrosinemia , MeadJohnson Overview of tyrosinemia , emedicine Tyrosinemia , MARodriguez Lanza, in Spanish Crigler-Najjar Syndrome Crigler-Najjar syndrome , Medical Encyclopedia Crigler-Najjar Association Links to Resources Crigler-Najjar Syndrome , Online Mendelian Inheritance in Man (OMIM) #218800 Crigler Najjar Syndrome , links to resources, web page from Italy (in English) Also See: National organizations - information on genetic conditions/birth defects Special Diet for low protein food (tyrosinemia, PKU, other)

70. Gene Therapy Cures Inherited Liver Disease In Rats - From The Laboratories At Ba This is the first time this disease (criglernajjar syndrome) has been crigler-najjar syndrome is an inherited disorder in which bilirubin (a substance http://www.bcm.edu/fromthelab/vol04/is4/05may_n3.htm

May 2005 Current Issue Past Issues About Us Public Affairs ... Baylor Home Sign up for free newsletter: Email Subscribe Unsubscribe Public Affairs Baylor College of Medicine One Baylor Plaza, Room 176B Houston, TX 77030 Telephone: Fax: email: pa@bcm.tmc.edu Photos Available Upon Request Comments, Suggestions? Gene therapy cures inherited liver disease in rats by Ruth SoRelle, MPH Brendan Lee, MD, PhD A single dose of gene-virus combination cured rats of an inherited liver disease in which lack of a gene causes the accumulation of bilirubin - which, untreated, results in jaundice and brain damage, said researchers at Baylor College of Medicine in a report in the Proceedings of the Natural Academy of Sciences. "This is the first time this disease (Crigler-Najjar syndrome) has been completely cured long term with a single injection in an adult animal," said Brendan Lee, MD, PhD, associate professor of molecular and human genetics and a Howard Hughes Medical Investigator at Baylor College of Medicine. 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. Individuals with this disorder lack an enzyme called uridine diphospho-glucuronosyl transferase 1A 1. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions.

71. Crigler-Najjar Disease CriglerNajjar disease. MIM.218800. crigler-najjar syndrome Crigler-Najjarsyndrome type I - crigler-najjar syndrome type II. Etiology http://www.humpath.com/article.php3?id_article=4671

72. Current Papers In Liver Disease - May, 1998 Treatment of the criglernajjar syndrome type I with hepatocyte transplantation.New England Journal of Medicine. 3381422-1426. crigler-najjar syndrome http://www.cumc.columbia.edu/dept/gi/may98.html

Current Papers in Liver Disease - May, 1998 By Howard J. Worman, M. D. Columbia University This is a past issue of Current Papers in Liver Disease. Click here for information on Current Papers and the current issue. Chayam, K., Suzuki, Y., Kobayashi, M., Kobayashi, M., Tsubota, A., Hashimoto, M., Miyano, Y., Koike, H., Kobayashi, M., Koida, I., Arase, Y., Saitoh, S., Murashima, N., Ikeda, K., and Kumada, H. 1998. Emergence and takeover of YMDD motif mutant hepatitis B virus during long-term lamivudine therapy and re-takeover by wild type after cessation of therapy. Hepatology. and Allen, M. I., Deslauriers, M., Andrews, C. W., Tipples, G. A., Walters, K.-A., Tyrrell, D. L. J., Brown, N., and Condreay, L. D. 1998. Identification and characterization of mutations in hepatitis B virus resistant to lamivudine. Hepatology. Lamivudine is an inhibitor of hepatitis B virus (HBV) RNA-dependent DNA polymerase that has shown considerable promise in the treatment of patients with hepatitis B. One factor that may limit its use as a therapeutic agent is the development of resistance, which is known to occur as a result of mutations in a particular amino acid motif of tyrosine-methione-aspartate-aspartate (YMDD) in the polymerase. These two studies in Hepatology further examined the phenomenon of lamivudine resistance. The study by Allen et al. examined the genomic sequences of HBV from 20 patients who developed resistance to lamivudine. The authors showed that the 20 mutations at the YMDD motif comprise two "groups." Group I had a substitution of valine for methionine (YVDD) and group II had a substitution of isoleucine for methionine (YIDD). Group I mutants always had a second mutation that resulted of leucine for another methionine at a position upstream of the YMDD motif. The authors further showed that these mutations inhibited polymerase sensitivity to lamivudine

73. Sue Golding Graduate Division @ AECOM - Roy-Chowdhury, Namita results in the potentially lethal disorder, criglernajjar syndrome type I (CN-1).Incomplete loss of the enzyme activity causes crigler-najjar syndrome http://www.aecom.yu.edu/home/sggd/faculty/nroychowdhury.htm

Department of Molecular Genetics ULLMANN BLDG. - ROOM 523 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.

74. Opera Directory An overview of criglernajjar syndrome including symptoms, treatment and NORD Crigler Najjar Syndrome Type I. General information and further resources http://portal.opera.com/directory/?cat=521033

75. Crigler-Najjar Syndrome Type II Is Inherited Both As A Dominant And As A Recessi criglernajjar syndrome type II (CN-II) is caused by a severely reduced hepaticactivity of bilirubin UDP-glucuronosyltransferase (UGT). http://hmg.oxfordjournals.org/cgi/content/full/5/5/645

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (29) Request Permissions PubMed PubMed Citation Articles by Koiwai, O. Articles by Sato, H. Human Molecular Genetics Pages Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait Introduction Results And Discussion Materials And Methods Human subjects ... References Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait Osamu Koiwai* Sachiko Aono Yukihiko Adachi Toshinori Kamisako Yoshihiro Yasui Miwako Nishizawa and Hiroshi Sato Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya Japan Department of Perinatology, Institute for Developmental Research, Aichi Prefecture Colony, Kasugai

76. MeSH-D Terms Associated To MeSH-C Term Crigler-Najjar Syndrome MeSHD terms associated to MeSH-C term crigler-najjar syndrome, G2D Home of the association of the corresponding term to crigler-najjar syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Crigler-Najjar_Syndrome:unknown

77. Crigler-Najjar Syndrome (type I CriglerNajjar); Arias syndrome (type II Crigler-Najjar) for prospective parents with a family history of crigler-najjar syndrome. http://www.healthscout.com/ency/1/001127prv.html

Search HealthScout Web MEDLINE Special Offers TV Specials Chronic Pain Erectile Dysfunction GERD Diabetes ... High Tech Health Top Features Bipolar Disorder Resources Sleep Skin Cancer Migraines ... Diabetes Health Organizer Resources Healthscout News 3D Health Animations Health Videos Health Encyclopedia ... Drug Library Drug Information Drug Search Drug Interactions Image Database Pill Identifier Channels Home Today Women Men ... Drug Checker Medical Health Encyclopedia Crigler-Najjar syndrome Injury Disease Nutrition Poison ... Prevention Crigler-Najjar syndrome Alternative Names: Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) Prevention: Genetic counseling is recommended for prospective parents with a family history of Crigler-Najjar syndrome. People who carry the gene can be recognized by blood testing. New Features Learn More About Migraines Bipolar Disorder Skin Cancer Building Strong Bones ... Alzheimer's Disease We subscribe to the HONcode principles of the Health On the Net Foundation About The HealthScout Network Contact Us Site Map To find more information on specific conditions, please visit our partner sites: ADHD Issues (www.adhdissues.com)

78. Crigler-Najjar Syndrome - SWMC Serving Vancouver Washington Portland Oregon criglernajjar syndrome - Online Medical Encyclopedia courtesy of SouthwestWashington Medical Center, a Top 100 Hosptital award winner locacted in http://www.swmedicalcenter.com/117786.cfm

@import url(default.css); Health Information Manager Back to Health Library Print This Page Email to a Friend Liver anatomy Crigler-Najjar syndrome 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. Alternative Names: Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) 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 enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called being homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop

79. Molecular Analysis Of Patients Of Sardinian Descent With Crigler-Najjar Syndrome criglernajjar syndrome type II resulting from three different mutations in thebilirubin uridine 5 -diphosphate-glucuronosyltransferase (UGT1A1) gene http://jmg.bmjjournals.com/cgi/content/abstract/34/2/122

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Rosatelli, M. C. Articles by Cao, A. Journal of Medical Genetics, 1997, Vol 34, 122-125 ARTICLES Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I MC Rosatelli, A Meloni, V Faa, L Saba, G Crisponi, MG Clemente, G Meloni, MT Piga and A Cao Instituto di Clinica e Biologia dell'Eta Evolutiva, Universita degli Studi di Cagliari, Sardinia, Italy. This study reports the molecular characterisation of the bilirubin UDP- glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence

80. Crigler-Najjar Syndrome Type II Resulting From Three Different Mutations In The http://jmg.bmjjournals.com/cgi/reprint/37/9/712

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