81. Cyp27a1 - Cytochrome P450 27, Mitochondrial Precursor upregulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis. features of cerebrotendinous xanthomatosis (CTX) a recessively inherited http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/144420.html

We demonstrate that expression of and other established PXR target genes is increased in the (-/-) mice. Abstract-9665671 Ciprofibrate and the PPARalpha agonist Wy14,643 decreased bile acid synthesis in cultured rat hepatocytes and suppressed cholesterol 7alpha-hydroxylase and sterol 27-hydroxylase activities, paralleled by a similar reduction of the respective mRNAs. Abstract-9091735 Side chain hydroxylations in bile acid biosynthesis catalyzed by are markedly up-regulated in -/- mice but not in cerebrotendinous xanthomatosis Abstract-8855957 Moreover, LPS decreases the binding activity of HNF-1 by 70% in nuclear extracts in hamster liver , suggesting that LPS may down-regulate sterol 27-hydroxylase by decreasing the binding of HNF-1 to its promoter. Abstract-8853407 Unlike (-/-) mice, activity was not up-regulated despite marked accumulation of 5beta-cholestane-3alpha,7alpha,12alpha-triol in CTX. Abstract-8855957 This 1alpha-hydroxylase constitutes a new subfamily

82. Directory Of Open Access Journals Issn, 00283886. Year, 2003. Volume, 51. Issue, 4. Pages/rec. No., 556558.Key words, cerebrotendinous xanthomatosis; Oromandibular dyskinesia. http://www.doaj.org/abstract?id=86621&toc=y

83. Human Protein: Q02318 - Cytochrome P450 27, Mitochondrial Precursor (EC -.-) (Cy Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomalrecessive lipid storage disease. SwissProt Information http://harvester.embl.de/harvester/Q023/Q02318.htm

Human protein: Q02318 - Cytochrome P450 27, mitochondrial precursor (EC -.-) (Cytochrome P-450C27/25) (Sterol 26-hydroxylase) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase). EMBL FORUM Length: 531 aa , molecular weight: 60235 Da , CRC64 checksum: MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV RRRQRSLEEI 60 PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL GPQMHVNLAS APLLEQVMRQ 120 EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE GHHWYQLRQA LNQRLLKPAE AALYTDAFNE 180 VIDDFMTRLD QLRAESASGN QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF 240 VRSIGLMFQN SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA 300 GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH LSKDPEIQEA 360 LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV PTNSRIIEKE IEVDGFLFPK 420 NTQFVFCHYV VSRDPTAFSE PESFQPHRWL RNSQPATPRI QHPFGSVPFG YGVRACLGRR 480 IAELEMQLLL ARLIQKYKVV LAPETGELKS VARIVLVPNK KVGLQFLQRQ C 531 // SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University Cytochrome P450, family 27, subfamily A, polypeptide 1

84. NURSA | Nuclear Receptor Signaling Atlas | Receptors, Coactivators, Corepressors Repa referred to a human syndrome, cerebrotendinous xanthomatosis (CTX), a diseasecharacterized by functional disruption of the Cyp27 gene. http://www.nursa.org/template.cfm?threadId=98

85. GeneCard For CYP27A1 cerebrotendinous xanthomatosis Human Gene Mutation Database entry for CYP27A1.Medical News (Possibly Related Articles in Doctor s Guide) http://genecards.bcgsc.bc.ca/cgi-bin/carddisp?CYP27A1

86. Cerebrotendinous Xanthomatosis: A Family Study Of Sterol 27-hydroxylase Mutation cerebrotendinous xanthomatosis a family study of sterol 27hydroxylase mutationsand pharmacotherapy. GF Watts, WD Mitchell, JJ Bending, A Reshef and E http://qjmed.oxfordjournals.org/cgi/content/abstract/89/1/55

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article 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 (12) Request Permissions PubMed PubMed Citation Articles by Watts, G. F. Articles by Leitersdorf, E. ORIGINAL PAPERS Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy GF Watts, WD Mitchell, JJ Bending, A Reshef and E Leitersdorf University Department of Medicine, University of Western Australia, Perth. We examined the phenotypic characteristics, molecular genetics and optimal pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family with combined hyperlipidaemia. The proband presented in adulthood with classical clinical characteristics of CTX, a greater than

87. Project: Neuromuscular And Neurometabolic Disorders (www.onderzoekinformatie.nl) In cerebrotendinous xanthomatosis the effect of a lipid storage disease on thenervous system was studied (6 new mutations were found, a new clinical sign http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1264186/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Neuromuscular and neurometabolic disorders Print View Titel Neuromusculaire en neurometabole aandoeningen Abstract Period 01/1995 - unknown Related organisations Secretariat: Department of Neurology (KUN) Related persons Project leader: Prof.dr. F.J.M. Gabre«ls Project leader: Prof.dr. G.W.A.M. Padberg Researcher: Drs. J.H. Blok Researcher: Dr.ir. W.N.J.M. Colier Researcher: Dr. G. Drost Researcher: Prof.dr. B.G.M. van Engelen Researcher: Dr. A.A.W.M. Gabre«ls-Festen Researcher: Dr. C.J. Houtman Researcher: Dr. J.G.N. de Jong Researcher: Dr. P.J.H. Jongen Researcher: Drs. E.L. van der Kooi Researcher: Dr. H.J. ter Laak Researcher: Prof.dr. S.L.H. Notermans Researcher: Dr. K. Roeleveld Researcher: Prof.dr.ir. D.F. Stegeman Researcher: Drs. A.S. Verrips Researcher: Drs. H.T.F.M. Verzijl Researcher: Drs. H.M. Vingerhoets Researcher: Dr. O.J.M. Vogels Researcher: Drs. R.A.C. van de Wetering Researcher: Prof.dr. R.A. Wevers

88. Untitled Document cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessively inheriteddisorder of bile acid synthesis caused by mutations in the sterol http://www2.musc.edu/Graduate/SRD/2004/SRD2004 Abstracts/119.html

TWO NOVEL MUTATIONS IN STEROL 27-HYDROXYLASE THAT CAUSE CEREBROTENDINOUS XANTHOMATOSIS Curzio Solcˆ, Tiffany Hunter, Shailesh Patel Division of Endocrinology, Diabetes and Medical Genetics, Department of Medicine, Medical University of South Carolina, STR 541, 114 Doughty St, Charleston, SC 29403, USA

89. CNR-PFI UO FEDERICO Antonio Evoked potentials in cerebrotendinous xanthomatosis and effect induced by SALEN G, FEDERICO A, cerebrotendinous xanthomatosis as a multisystem http://www.aging.cnr.it/uoe/uo2_071.htm

Reference Scientific data Publications Products ... Home page Italian National Research Council Targeted Project on Ageing Research Unit Director: FEDERICO Antonio Address: Viale Bracci, 2 - 53100 - Siena tel.: 0577-585763 - 263355 - fax: 0577-40327 E-mail: federico@unisi.it Scientific informations Subproject Italian Longitudinal Study of Ageing Title of research Side effects of drugs on mitochondrial metabolism. In vitro studies on cell lines and in vivo on populations. Minor clinical signs on carriers for dismetabolic neurogenetic disorders. Keywords mitochondria lysosomes carrier dementias Aims Side effect of antidepressant, antiarrythmic, neuroleptic drugs on mitochondrial and lysosomal metabolism in vivo and in vitro. Side effect of chronic use in population studies. The neuropharmacological model will be used for the study of the biochemical pathogenesis of the neurometabolic diseases. Studies of atypical cases of neurometabolic diseases. Evidence of minor clinical signs in carriers of neurometabolic genetic diseases considered as a model of premature ageing. Scientific activity Scientific results Reference Scientific data Publications Products ... Home page Publications Publications on Journals cited by Current Contents FEDERICO A, MALANDRINI A

90. THE MERCK MANUAL--SECOND HOME EDITION, Lipid Metabolism In Ch. 282, Hereditary M cerebrotendinous xanthomatosis occurs when cholestanol, a product of cholesterolmetabolism, accumulates in tissues. This disease eventually leads to http://www.merck.com/mmhe/sec23/ch282/ch282d.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Hereditary Metabolic Disorders Topics Introduction Amino Acid Metabolism Carbohydrate Metabolism Lipid Metabolism Pyruvate Metabolism Lipid Metabolism Buy The Book Print This Topic Email This Topic Pronunciations amniocentesis apheresis atherosclerosis cerebrotendinous xanthomatosis ... xanthomatosis Fats (lipids) are an important source of energy for the body. The body's store of fat is constantly broken down and reassembled to balance the body's energy needs with the food available. Groups of specific enzymes help the body break down and process fats. Certain abnormalities in these enzymes can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. Disorders caused by the accumulation of lipids are called lipidoses. Other enzyme abnormalities result in the body being unable to properly convert fats into energy. These abnormalities are called fatty acid oxidation disorders.

91. IngentaConnect Clinical And Molecular Genetic Characteristics Of Patients With C cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a Keywords cerebrotendinous xanthomatosis; mutations; genotype–phenotype http://www.ingentaconnect.com/content/oup/brainj/2000/00000123/00000005/art00908

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis Authors: Verrips A. ; Hoefsloot L.H. ; Steenbergen G.C.H. ; Theelen J.P. ; Wevers R.A. ; van Engelen B.G.M. ; van den Heuvel L.P.W.J. Source: Brain , Volume 123, Number 5, May 2000, pp. 908-919(12) Publisher: Oxford University Press View Table of Contents full text options Abstract: Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP 27), due to mutations in its gene. In this study we report on mutations in 58 patients with CTX out of 32 unrelated families. Eight of these were novel mutations, two of which were found together with two already known pathogenic mutations. Twelve mutations found in this patient group have been described in the literature. In the patients from 31 families, mutations were found in both alleles. In the literature, 28 mutations in 67 patients with CTX out of 44 families have been described. Pooling our patient group and the patients from the literature together, 37 different mutations in 125 patients out of 74 families were obtained. Identical mutations have been found in families from different ethnic backgrounds. In 41% of all the patients

92. Interesting Case No. 1 - Loyola University's Department Of Pathology Prepared by Karen Thompson, MD, and Meena Gujrati, MD. The diagnosis iscerebrotendinous xanthomatosis (CTX). Biochemical Analysis of brain tissue http://www.luhs.org/depts/path/education/cases/cs1dg.htm

CASE No. 1: 56-YEAR-OLD MALE WITH ATAXIA Prepared by: Karen Thompson, M.D., and Meena Gujrati, M.D. The diagnosis is cerebrotendinous xanthomatosis (CTX) Biochemical Analysis of brain tissue: Cholesterol Cholestanol Ratio Cerebellum (control) Cerebellum (patient) Frontal lobe (control) Frontal lobe (patient) Cerebrotendinous xanthomatosis (CTX) facts: Rare familial lipid storage disease First described by Van Bogaert, et al. (1937) Defective bile acid synthesis resulting in accumulation of cholestanol with xantoma formation Central nervous system, peripheral nervous systems, tendons, and bile Juvenile cataracts Presents 2nd - 3rd decade Cataracts contain high level of cholestanol Tendon xanthomas Presents 2nd - 3rd decade Preferentially involves Achilles tendon Quadriceps, triceps, and finger extensor tendons can also be involved CNS Involvement: Progressive neurological dysfunction Initial symptoms appear by age 20 Mild mental retardation to severe dementia Ataxia, dysarthria

93. Human Skeletal Muscle [Return To Full Profile] Hs.82568 [G NM_000105, Homo sapiens cytochrome P450, subfamily XXVIIA (steroid 27hydroxylase,cerebrotendinous xanthomatosis), polypeptide 1 (CYP27A1a) mRNA http://telethon.bio.unipd.it/cgi-bin/GETProfEST.cgi?profile=skm2208&entry=82568&

94. Structure-function Analysis Of CYP27B1 And CYP27A1: Studies On Mutants From Pati rickets type I (VDDRI) and cerebrotendinous xanthomatosis (CTX) vitamin D-dependent rickets type I; CTX, cerebrotendinous xanthomatosis; THC, http://content.febsjournal.org/cgi/content/abstract/268/24/6607

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Sawada, N. Articles by Inouye, K. Eur. J. Biochem. FEBS Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX) Natsumi Sawada Toshiyuki Sakaki Sachiko Kitanaka Shigeaki Kato and Kuniyo Inouye Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Japan; Institute of Molecular and Cellular Biosciences, The University of Tokyo, Japan Correspondence to K. Inouye, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Sakyo-ku, Kyoto 606-8502, Japan. Fax:+81 75 753 6265, Tel.:+81 75 753 6266, E-mail: We have determined eight types of missense mutants of CYP27B1 from Japanese vitamin D-dependent rickets type I (VDDR-I) patients [Kitanaka, S., Takeyama, K., Murayama, A., Sato, T., Okumura

95. Biochemical Diagnosis Of Cerebrotendinous Xanthomatosis Using Reversed Phase Thi When serum cholestanol in cerebrotendinous xanthomatosis (CTX) patients wasquantified by TLC, GCMS, and GC, the correlation among the three methods was http://jb.oxfordjournals.org/cgi/content/abstract/99/3/771

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article 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 PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Kasama, T. Articles by Seyama, Y. ARTICLES Biochemical diagnosis of cerebrotendinous xanthomatosis using reversed phase thin layer chromatography T. Kasama and Y. Seyama We developed a simple quantitative procedure for cholestanol in serum involving reversed phase thin layer chromatography. This procedure was satisfactory with regard to the linearity of the calibration curve in the range of 100 ng to 1,000 ng, recovery and reproducibility. Only 100 microliter of serum was needed for determination of the cholestanol concentration. Prior to thin layer chromatography, cholesterol was converted to alpha- and beta-epoxides with m-chloroperbenzoic acid, which

96. Xanthomatosis, Cerebrotendinous Xanthomatosis, Cerebrotendinous Medical.WebEnds.com. http://medical.webends.com/kw/Xanthomatosis, Cerebrotendinous

Medical.WebEnds.com - Medical Terminology Dictionary A B C D ... Z WWW Medical.WebEnds.com Xanthomatosis, Cerebrotendinous Van Bogaert-Scherer-Epstein Disease; Bogaert-Scherer-Epstein Disease, Van; Cerebrotendinous Xanthomatoses; Cerebrotendinous Xanthomatosis; Disease, Van Bogaert-Scherer-Epstein; Van Bogaert Scherer Epstein Disease A lipid storage disease , inherited as an autosomal recessive trait, characterized by xanthomas of the tendons , the white matter of the brain , and the lungs, and by spasticity, ataxia , pyramidal paresis mental retardation dementia , early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves . The lesions contain cholesterol and dehydro cholesterol . (Dorland, 28th ed) Google links Processing time was 0.062505006790161 seconds.

97. Karger Publishers cerebrotendinous xanthomatosis is characterized by tendinous xanthomas, progressivecerebellar ataxia, mental retardation, cataracts, and elevated serum http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

98. Xanthomatosis Cerebrotendinous Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/xanthomatosis_cerebrotendinous.html

Orphanet database access Xanthomatosis cerebrotendinous Direct access to data Summary Clinical signs Autosomal recessive inheritance Hyperlipidaemia/hypercholesterolemia Xanthomas/lipomas Paraparesis/quadraparesis Ataxia/incoordination Cataract E.E.G.abnormality Hypereflexia Intracranial calcifications Kidney stones Neurological regression/dementia Update : 04/09/2005 Orphanet database access

99. Free Online ICD9/ICD9CM Codes And Medical Dictionary xanthomatosis, cerebrotendinous Van BogaertScherer-Epstein Disease Bogaert-Scherer-Epstein Disease, Van cerebrotendinous Xanthomatoses http://icd9cm.chrisendres.com/index.php?action=dictdtl&recordid=16610

100. The Human Skeletal Muscle Transcriptional Profile Unigene Entry Hs Cytochrome P450, subfamily XXVIIA (steroid 27hydroxylase, cerebrotendinousxanthomatosis), polypeptide 1. SEE ALSO. LocusLink, 1593. OMIM, 213700 http://telethon.bio.unipd.it/GETProfiles/Skeletal_Muscle/ESTs/Hs.82568.html

The Human Skeletal Muscle transcriptional profile Unigene entry Hs.82568 (Jul, 9th, 1999). Hs.82568 Homo sapiens Cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1 SEE ALSO LocusLink OMIM MAPPING INFORMATION Chromosome MIM Gene Map 2q33-qter Gene Map 98 , Chr.2, EXPRESSION INFORMATION cDNA sources fetal liver/spleen, multiple sclerosis lesions, monocytes (stimulated), melanocyte, infant brain, liver, bloodwhite cells BodyMap GS 2411 SAGE Gene to Tag mapping mRNA/GENE SEQUENCES (2) Human sterol 27-hydroxylase (CYP27) mRNA, complete cds H.sapiens CYP 27 mRNA for vitamin D3 25-hydroxylase EST SEQUENCES (41) cDNA clone IMAGE:43563 Brain 5' read 1.8 kb cDNA clone IMAGE:43563 Brain 3' read 1.8 kb cDNA clone IMAGE:261618 Foreskin 5' read 1.6 kb cDNA clone IMAGE:261618 Foreskin 3' read 1.6 kb cDNA clone IMAGE:262769 Foreskin 5' read 1.4 kb cDNA clone IMAGE:198553 5' read 0.6 kb cDNA clone IMAGE:198553 3' read 0.6 kb cDNA clone IMAGE:202972 5' read 0.6 kb cDNA clone IMAGE:202972 3' read 0.6 kb cDNA clone IMAGE:2184845 Stomach 3' read 0.6 kb

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