61. Molecular Genetics Of Cerebrotendinous Xanthomatosis In Jews Of North African Or cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storagedisease Spinal xanthomatosis a variant of cerebrotendinous xanthomatosis http://www.jlr.org/cgi/content/abstract/35/3/478

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Citation Map 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 Reshef, A. Articles by Leitersdorf, E. ARTICLES Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin A Reshef, V Meiner, VM Berginer and E Leitersdorf Division of Medicine, Hadassah University Hospital, Jerusalem, Israel. Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storage disease characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues. The disorder is manifested by extensive nervous system involvement, juvenile cataracts, tendon xanthomas, and premature atherosclerosis and is caused by sterol 27- hydroxylase (EC 1.14.13.15) mutations. Recently, two mutations were shown to cause CTX in

62. Cerebrotendinous Xanthomatosis Caused By Two New Mutations Of The Sterol-27-hydr cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage diseaseassociated Spinal xanthomatosis a variant of cerebrotendinous xanthomatosis http://www.jlr.org/cgi/content/abstract/37/7/1459

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Citation Map 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 Garuti, R. Articles by Calandra, S. ARTICLES Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing R Garuti, N Lelli, M Barozzini, R Tiozzo, MT Dotti, A Federico, AM Ottomano, A Croce, S Bertolini and S Calandra Dipartimento di Scienze Biomediche, Universita di Modena, Italy. Cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage disease associated with the accumulation of cholestanol and cholesterol in various tissues. CTX is caused by a deficiency of sterol-27- hydroxylase, a mitochondrial enzyme that oxidizes the side chain of cholesterol in the pathway leading to the formation of bile acids. In the present study we

63. Dorlands Medical Dictionary cerebrotendinous xanthomatosis, a lipid storage disease, inherited as an autosomalrecessive trait, characterized by xanthomas of the tendons, http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

64. Cerebrotendinous Xanthomatosis: The Spectrum Of Imaging Findings And The Correla Quantification of Brain Damage in cerebrotendinous xanthomatosis with MagnetizationTransfer MR Imaging AJNR Am. J. Neuroradiol., March 1, 2003; http://radiology.rsnajnls.org/cgi/content/abstract/217/3/869

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article 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 Barkhof, F. Articles by Valk, J. Radiology. RSNA Neuroradiology Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings Frederik Barkhof, MD , Aad Verrips, MD , Pieter Wesseling, MD , Marjo S. van der Knaap, MD , Baziel G. M. van Engelen, MD , Antoine Keyser, MD , Ron A. Wevers, MD and Jaap Valk, MD From the Depts of Radiology (F.B., J.V.) and Pediatric Neurology (M.S.v.d.K.), Academic Hospital "Vrije Universiteit," De Boelelaan 1118, 1081 HV Amsterdam, the Netherlands; and the Depts of Pediatric Neurology (A.V., F.J.M.G.), Pathology (P.W.), and Neurology (P.W., B.G.M.v.E., A.K.) and the Laboratory of Pediatrics and Neurology (R.A.W.), Univ Hosp Nijmegen, the Netherlands. Received Sep 15, 1999; revision requested Nov 5; final revision received Mar 31, 2000; accepted May 1. Address correspondence to F.B. (e-mail:

65. Cerebrotendinous Xanthomatosis: The Spectrum Of Imaging Findings And The Correla cerebrotendinous xanthomatosis (CTX) is an autosomalrecessive lipid storage disease cerebrotendinous xanthomatosis defective liver mitochondrial http://radiology.rsnajnls.org/cgi/content/full/217/3/869

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Figures Only Full Text (PDF) ... Citation Map Services Email this article 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 Barkhof, F. Articles by Valk, J. Radiology. RSNA Neuroradiology Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings Frederik Barkhof, MD , Aad Verrips, MD , Pieter Wesseling, MD , Marjo S. van der Knaap, MD , Baziel G. M. van Engelen, MD , Antoine Keyser, MD , Ron A. Wevers, MD and Jaap Valk, MD From the Depts of Radiology (F.B., J.V.) and Pediatric Neurology (M.S.v.d.K.), Academic Hospital "Vrije Universiteit," De Boelelaan 1118, 1081 HV Amsterdam, the Netherlands; and the Depts of Pediatric Neurology (A.V., F.J.M.G.), Pathology (P.W.), and Neurology (P.W., B.G.M.v.E., A.K.) and the Laboratory of Pediatrics and Neurology (R.A.W.), Univ Hosp Nijmegen, the Netherlands. Received Sep 15, 1999; revision requested Nov 5; final revision received Mar 31, 2000; accepted May 1. Address correspondence to F.B. (e-mail:

66. EMedicine - Hansen Disease : Article By James M Arrington, MD cerebrotendinous xanthomatosis Leishmaniasis Discoid lupus erythematosus Basalcell carcinoma Tuberculosis colliquativa Actinomyces mexicanus (Mycetoma) http://www.emedicine.com/oph/topic743.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Ophthalmology Lid Hansen Disease Last Updated: February 21, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: leprosy, Hansen's disease, Mycobacterium leprae M leprae AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: James M Arrington, MD , Former Chief and Chairman, Department of Ophthalmology, USPHS Hospital, San Francisco; Former Clinical Professor, Department of Ophthalmology, Texas Tech University Health Science Center School of Medicine James M Arrington, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Ophthalmology American Medical Association , and Contact Lens Association of Ophthalmologists Editor(s): Jack L Wilson, PhD , Distinguished Professor, Department of Anatomy and Neurobiology, University of Tennessee at Memphis; Francisco Talavera, PharmD, PhD

67. EMedicine - Sitosterolemia : Article By Robert D Steiner, MD cerebrotendinous xanthomatosis cerebrotendinous xanthomatosis, andbetasitosterolemia, and xanthomatosis. In Stanbury B, Wyngaarden, Fredrickson DS, http://www.emedicine.com/ped/topic2110.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Sitosterolemia Last Updated: July 1, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia, pseudohomozygous hypercholesterolemia, sitosterol, stigmasterol, campesterol, plant sterols, coronary atherosclerosis, , xanthomas, autosomal recessive genetic condition, bile acid-binding resins, xanthelasma, corneal arcus, hemolytic anemia, thrombocytopenia, lipid disorder, lipid disease, lipid storage disorder, lipid storage disease, hyperlipidemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Coauthor(s): Patricia Campbell, MD

68. Pulmonary Lymphangioleiomyomatosis And Cerebrotendinous Xanthomatosis: Is There cerebrotendinous xanthomatosis was diagnosed 4 years before. An open lung biopsyshowed the simultaneous presence of cerebrotendinous xanthomatosis and http://www.chestjournal.org/cgi/content/abstract/112/1/273

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) Submit a response 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 ... Download to citation manager PubMed PubMed Citation Articles by Dormans, T. P. Articles by Cox, N. ARTICLES Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link? TP Dormans, A Verrips, J Bulten and N Cox Department of Internal Medicine, University Hospital Nijmegen, The Netherlands. A 41-year-old woman had progressive shortness of breath. Cerebrotendinous xanthomatosis was diagnosed 4 years before. An open- lung biopsy showed the simultaneous presence of cerebrotendinous xanthomatosis and pulmonary lymphangioleiomyomatosis. This is perhaps the first time the coincidental occurrence of these two diseases is described.

69. 1998 - Journal Of Dermapathology cerebrotendinous xanthomatosis (CTX) tanisi alan 43 yasindaki erkek hastanin 25 cerebrotendinous xanthomatosis ilk kez 1937 de Bogaert tarafindan mental http://www.ato.org.tr/konuk/tdp/tjod/1998-01/9852.html

Year:1998 No:1-2 Vol:8 Serebrotendinöz Ksantomatozis* Dr. Gülçin ALTINOK1, Dr. Aytaç GÖKÖZ1, Dr. Eser YÜKSEL2 Hacettepe Üniversitesi Týp Fakültesi Patoloji1, Plastik ve Rekonstrüktif2 Cerrahi Anabilim Dalý Özet Cerebrotendinous xanthomatosis (CTX) tanýsý alan 43 yaþýndaki erkek hastanýn 25 senedir sol topukta aþil tendonu üzerinde ve diz altýnda, 4 senedir sað topukta aþil tendonu üzerinde ve sað dizde semimobil ve aðrýsýz kitleleri mevcuttu. Oldukça nadir olan ve otozomal resessif olarak geçen CTX'in klinik bulgularý; tendinöz ksantomalar, katarakt, nörolojik fonksiyon bozukluðu, demans, ataksi, hafifçe yüksek serum kolesterol seviyesi ve koroner arter hastalýðýdýr. Çoðunlukla lezyonlar el ve ayakta ekstensör tendonlarýn üzerinde ortaya çýkabileceði gibi aþil ve patella tendonlarý da tutulabilmektedir. Anahtar sözcükler: Serebrotendinöz ksantomatozis, aþil tendonu, ksantoma Summary Cerebrotendinous xanthomatosis The patient aged 43, had semimobile, painless grayish yellow masses on his left achilles tendon for 25 years and right achilles tendon and knee for 4 years, diagnosed as Cerebrotendinous Xanthomatosis (CTX).

70. Journal Of Pediatric Gastroenterology And Nutrition - UserLogin Treatment and followup of children with cerebrotendinous xanthomatosis. Eur JPediatr 1998;157313-6. Medline Link CrossRef Context Link http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200504000-00016.htm

71. Maladies Rares, Maladies Orphelines cerebrotendinous xanthomatosis (CTX) Chagas disease chalazion CTX (cerebrotendinousxanthomatosis) CurthMacklin type ichthyosis hystrix http://www.fmo.easynetonline.net/anciensite/listord.html

72. British Library Direct: Order Details Library A case of familial type IIa hypercholesterolemia with the clinicalfeatures similar to cerebrotendinous xanthomatosis Clinical Neurology tokyo- http://direct.bl.uk/research/50/32/RN082361900.html

This is an article from British Library Direct, a new service that allows you to search across 20,000 journals for free and order full text using your credit card. Buy this article Search British Library Direct Return to Google Article details Article title A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis Author Sakae, N. Taniwaki, T. Arakawa, K. Yamada, T. Kira, J.-i. Journal title CLINICAL NEUROLOGY -TOKYO- Bibliographic details 2000, VOL 40; PART 3, pages 222-226 Publisher SOCIETAS NEUROLOGICA JAPONICA Country of publication Japan ISBN ISSN Language Original Pricing To buy the full text of this article you pay: service charge Abstract: By using this site you agree to our terms and conditions Privacy policy We welcome your comments

73. Arch Ophthalmol -- Abstract: Cerebrotendinous Xanthomatosis, January 1976, Kearn cerebrotendinous xanthomatosis. WP Kearns and WS Wood. A case of presumedcerebrotendinous xanthomatosis is described. The association of cataracts with http://archopht.ama-assn.org/cgi/content/abstract/94/1/148

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 94 No. 1, January 1976 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Kearns WP Wood WS Contact me when this article is cited Cerebrotendinous xanthomatosis W. P. Kearns and W. S. Wood A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease. HOME CURRENT ISSUE PAST ISSUES COLLECTIONS ... HELP

74. Mayo Clinic Proceedings cerebrotendinous xanthomatosis (CTX) is an extremely rare autosomal recessive cerebrotendinous xanthomatosis is clinically characterized by tendon http://www.mayoclinicproceedings.com/inside.asp?AID=380&UID=

75. Case Of Cerebrotendinous Xanthomatosis. I: Unusual Ophthalmic Features -- Morgan A case of cerebrotendinous xanthomatosis is reported. In addition to the classicalophthalmic and systemic features the patient presented with unilateral http://bjo.bmjjournals.com/cgi/content/abstract/73/12/1011

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 ... Download to citation manager PubMed PubMed Citation Articles by Morgan, S. J. Articles by Bosanquet, R. C. British Journal of Ophthalmology, 1989, Vol 73, 1011-1014 ORIGINAL ARTICLES Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features SJ Morgan, P McKenna and RC Bosanquet Department of Ophthalmology, Newcastle General Hospital. A case of cerebrotendinous xanthomatosis is reported. In addition to the classical ophthalmic and systemic features the patient presented with unilateral proptosis. This feature has never previously been reported. The

76. Biosynthesis Of Bile Acids In Cerebrotendinous Xanthomatosis. Relationship Of Bi Moreover in cerebrotendinous xanthomatosis, mitochondrial 5 betacholestane-3alpha,7 Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=423892

77. Abnormal High Density Lipoproteins In Cerebrotendinous Xanthomatosis. Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=370925

78. Connexion Genetic analysis of a Japanese cerebrotendinous xanthomatosis family cerebrotendinous xanthomatosis in the israeli druze molecular genetics and http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=CYP27A1

79. ?050321 Translate this page cerebrotendinous xanthomatosis in three siblings from a Taiwanese family. cerebrotendinous xanthomatosis a rare disease with diverse manifestations. http://www.wanfangdata.com.cn/qikan/periodical.Articles/zhsjk/zhsj2005/0503/0503

80. CYP27A1 - Cytochrome P450 27, Mitochondrial Precursor upregulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis. man with cerebrotendinous xanthomatosis genetic analysis of the sterol http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/87609.html

A series of homologated 1 alpha-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3 molecules with one to three extra carbons in the side chain were used to examine the substrate preferences and hydroxylation site selection mechanisms of the liver vitamin D3-25-hydroxylase ( ) and the target cell 25-hydroxyvitamin D3-24-hydroxylase ( Abstract-298551 However, in marked contrast, enhanced the kinase activity. Abstract-1157940 We demonstrate that expression of and other established PXR target genes is increased in the (-/-) mice. Abstract-9665671 An additional electrostatic interaction between adrenodoxin and P450c27 ( ) results in tighter binding than between adrenodoxin and Abstract-1719877 Western blot analysis, spectral analysis including reduced CO-difference spectra and substrate-induced difference spectra, and enzymatic analysis of the mutant gave information on the structure- function relationships of both and Abstract-8869483 In conclusion, glycine-conjugated and free bile acids suppress bile acid synthesis and mRNA levels of mRNA levels of and are suppressed to a much lower degree than Abstract-10029742 Ciprofibrate and the PPARalpha agonist Wy14,643 decreased bile acid synthesis in cultured rat

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