81. Node-61 13A H.sapiens; Clone=1338448) 1 P 3780 0.0478 16502 (Cytochrome P450, subfamilyXXVII (steroid 27hydroxylase, cerebrotendinous xanthomatosis); Clone=195269 http://www-users.cs.umn.edu/~boley/GENES/Tree1/Node-61.htm

Node-61 level=6 length=2 scatter=0.648078 sval^2=0.648078 [ratio 1] (Parent: length=4 scatter=2.10815 sval^2=0.833164) (ratio 2.53029) This node's top (Node-61) This node's Contents This node's Principal Direction This node's Centroid ... 62 (sibling) Contents (2 items) 17 (-0.7071) 17 DLCL-0011 +02 18 ( 0.7071) 18 DLCL-0032 -13 This node's top (Node-61) This node's Contents This node's Principal Direction This node's Centroid ... 62 (sibling) Most Distinctive Attributes from Principal Direction Vector (top 31 entries) This node's top (Node-61) This node's Contents This node's Principal Direction This node's Centroid ... 62 (sibling) Scaled Centroid (top 21 entries, original norm 0.822168) This node's top (Node-61) This node's Contents This node's Principal Direction This node's Centroid ... 62 (sibling)

82. Node-8 integrin alphaX; Clone=234357 1 P 1243 0.0829 16502 (Cytochrome P450, subfamilyXXVII (steroid 27-hydroxylase, cerebrotendinous xanthomatosis); Clone=195269 http://www-users.cs.umn.edu/~boley/GENES/TreeCoal2/Node-8.htm

Node-8 level=2 length=27 scatter=19.0535 sval^2=2.44955 [ratio 7.77836] (Parent: length=51 scatter=44.0813 sval^2=5.77909) (ratio 7.62772) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child) Contents (27 items) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child) Most Distinctive Attributes from Principal Direction Vector (top 39 entries) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child) Scaled Centroid (top 23 entries, original norm 0.542509) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child)

83. Cytochrome P450, Subfamily XXVIIA (steroid 27-hydroxylase Hs.82568, Homo sapiens, CYP27A1. Cytochrome P450, subfamily XXVIIA (steroid27hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1 SEE ALSO, 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

84. Enhancement Of Mdr2 Gene Transcription Mediates The Biliary Transfer Of Phosphat 1994 Aug;125(1)228. Treatment of cerebrotendinous xanthomatosiseffects of chenodeoxycholic acid, pravastatin, and combined use. http://pharmacy-online-usa.com/ref-pravachol/pravachol-research-abs3.81.html

Pravachol References Hepatology. 1999 Jun;29(6):1825-32. Enhancement of mdr2 gene transcription mediates the biliary transfer of phosphatidylcholine supplied by an increased biosynthesis in the pravastatin-treated rat. Carrella M, Feldman D, Cogoi S, Csillaghy A, Weinhold PA. Cattedra di Gastroenterologia, Facolta di Medicina e Chirurgia, Universita degli Studi di Udine, Italy. J Neurol Sci. 1994 Aug;125(1):22-8. Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. Kuriyama M, Tokimura Y, Fujiyama J, Utatsu Y, Osame M. Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan. Dermatology. 1996;192(3):214-6. Effects of systemic treatment with statins on skin barrier function and stratum corneum water-holding capacity. Brazzelli V, Distante F, Perani G, Berardesca E. Department of Dermatology, University of Pavia, IRCCS Policlinico S. Matteo, Italy. keyword search: pravachol online literature Dream Pharmaceuticals Rx Online Celebrex Dream Pharmaceuticals Rx Online Evista DreamPharm: Herbal and Nutritional supplements online Hair Million herbal formula for hair loss and hair growth Dream Pharmaceuticals Rx: Prescription Drugs Online Prescription drugs: drugs online, online pharmacy

85. NURSA - Nuclear Receptor Signaling Atlas Repa showed using coactivatorbinding assays that these intermediates act asfunctional PXR ligands in vitro. cerebrotendinous xanthomatosis (CTX). http://www.nursa.org/template.cfm?threadId=98

86. Health Conditions And Diseases Nutrition And Metabolism Disorders Cholesterol An Top Web Sites cerebrotendinous xanthomatosis CTX Symptoms presentedwith this disease, the diagnosis and the treatment. http://www.pastconnect.com/odp/directory/Health/Conditions_and_Diseases/Nutritio

Sponsored Links What are you looking for? the entire directory only in Cholesterol_and_Other_Fats/Cerebrotendinous_Xanthomatosis Popular Categories Popular Searches Recent Categories Recent Searches ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis Top Web Sites: Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment. Try other search sites: Cerebrotendinous Xanthomatosis " search on: All the Web AltaVista Gigablast Google USENET ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Powered by ODP++

87. DiseaseSeek.com Cerebrotendinous_Xanthomatosis Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and OtherFats cerebrotendinous xanthomatosis Found 2 sites about Cerebrotendinous http://www.diseaseseek.com/categories/Health__Conditions_and_Diseases__Nutrition

@import url(http://www.animationseek.com/style.css); Search Directory Forum Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis - Found 2 sites about Cerebrotendinous Xanthomatosis Cerebrotendinous Xanthomatosis profile http://www.bhj.org/journal/1997/3901_jan/case_180.htm Case study of a 15 year old male student. Cerebrotendinous Xanthomatosis: CTX profile http://www.ulf.org/ulf/intro/#Inf6 Symptoms presented with this disease, the diagnosis and the treatment. Add / Update Url Become an Editor Link to Us Sitemap ... DiseaseSeek.com - Medical Conditions and Disease Search Engine - Seeking Sites about Conditions, Allergies,Blood Disorders,Cancer, Cardiovascular Disorders,Communication Disorders, Congenital Anomalies,Dental Disorders,Digestive Disorders,Ear, Nose and Throat, Endocrine. MedicineSeek.com AstronomySeek.com BiologySeek.com ChemistrySeek.com ... TechnologySeek.net

88. The Database Rejected This Transaction. GDB Object Name cytochrome P450, subfamily XXVII (sterol27hydroxylase, cerebrotendinous xanthomatosis). http://gdbwww.dkfz-heidelberg.de/gdb-bin/genera/genera/hgd/ObjectName/2467661?!s

89. Jacob Clarenbach, MD Clinical Studies. Sterol Kinetics in Patients with cerebrotendinous xanthomatosis;Clinical Studies on the Pharmacology of Ezetimibe (Zetia®); http://www8.utsouthwestern.edu/utsw/cda/dept27717/files/155371.html

Advanced Search document.write(hashTable['Home'].parentMenu) Home Research Center for Human Nutrition Jacob Clarenbach, MD Home About the Center Facilities Administration ... CHN Newsletters Current Research Center for Human Nutrition Director: Scott M. Grundy Clinical Studies Fatty Acid Metabolism and Insulin Resistance Inflammation Markers Physiology and Genetics of Cholesterol and Plant Sterol Absorption University of Bonn, Germany Department of Clinical Pharmacology Director: Klaus von Bergmann Clinical Studies Sterol Kinetics in Patients with Cerebrotendinous Xanthomatosis Phase I Study involving an ACAT Inhibitor Professional Experience since 11/2003 University of Texas Southwestern Medical Center in Dallas Research Fellow Center for Human Nutrition Director: Scott M. Grundy University of Bonn , Germany Resident Department of Clinical Pharmacology (Assistenzarzt) Director: Klaus von Bergmann University of Bonn , Germany Intern Department of Medicine I (Arzt im Praktikum) Director: Tilman Sauerbruch University of Bonn, Germany

90. HNRCA : Two Novel Mutations In The Sterol 27-hydroxylase Gene Causing Cerebroten LamonFava S, Schaefer EJ, Garuti R, Salen G, Calandra S. Two novel mutationsin the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. http://hnrcwww.hnrc.tufts.edu/publications/detail.php?id=126825

91. MITOP Human - Entry Defects in CYP27 are the cause of cerebrotendinous xanthomatosis (CTX), a raresterol storage disorder characterized clinically by progressive neurologic http://mips.gsf.de/cgi-bin/proj/medgen/tohtml?h A39740

92. Genetic And Rare Diseases Information Center - Office Of Rare Diseases gov. Disease xanthomatosis cerebrotendinous. Synonyms CTX. cerebrotendinousxanthomatosis. Disease Information. Clinical http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=5622

93. Birth Disorder Information Directory - X List of Sites. Xanthoma Tuberosum See BroadBetalipoproteinemia. XanthomatosisCerebrotendinous (Cerebral Cholesterinosis, Sterol 27-Hydroxylase Deficiency) http://www.bdid.com/defectx.htm

HOME X X-Linked Lymphoproliferative Disease See Duncan Disease X-Linked Mental Retardation Related Books See Mental Retardation, X-Linked X-Linked Progressive Combined Variable Immunodeficiency See Duncan Disease X-Linked Severe Combined Immunodeficiency See Severe Combined Immunodeficiency, Alymphocytotic/Swiss Type/X-Linked Xanthelasmoidea See Urticaria Perstans Hemorrhagica/with Pigmentosa Xanthinuria (Xanthic Urolithiasis) List of Sites Xanthoma Tuberosum See Broad-Betalipoproteinemia Xanthomatosis Cerebrotendinous (Cerebral Cholesterinosis, Sterol 27-Hydroxylase Deficiency) CEREBROTENDINOUS XANTHOMATOSIS Xanthomatosis cerebrotendinous Xeroderma Pigmentosum List of Sites with Talipes and Enamel Defects See XTC SYNDROME Xerodermic Idiocy of De Sanctic and Cacchione See De Sanctis Cacchione Syndrome XK (Aprosencephaly) Syndrome (Aprosencephaly Syndrome, Aprosencephaly-Stelencephaly Syndrome, Atelencephalic Microcephaly Syndrome, Garcia Lurie Syndrome) List of Sites XLP See Duncan Disease XTC Syndrome (Moynahan's Syndrome III, Xeroderma with Talipes and Enamel Defects) Xeroderma talipes enamel defects Moynahan's syndrome III XX Male Syndrome See De la Chapelle Syndrome XXY List of Sites XY Gonadal Agenesis Syndrome See Testicular Regression Syndrome Xylitol Dehydrogenase Deficiency See Pentosuria HOME

94. NurseZone - On The Job - Nursing News - Cardiology Case Report Coronary heart disease in a patient with cerebrotendinousxanthomatosis Journal of Internal Medicine. Here, we present http://www.nursezonenews.com/

On the job Nursing news News by specialty Cardiovascular ... Search NurseLinx Archives June 01, 2004 Smoking habits and predictors of continued smoking in patients with acute coronary syndromes Journal of Advanced Nursing Conclusions: Smoking patients who do not participate in a heart rehabilitation programme may need extra help with smoking cessation. The findings may provide means of identifying patients in need of special intervention... Acute Escherichia coli endotoxaemia decreases the plasma L-arginine/asymmetrical dimethylarginine ratio in humans Clinical Science Acute inflammation impairs vascular function. Based on the association between endothelial dysfunction and plasma concentrations of L-arginine and the endogenous nitric oxide synthase inhibitor ADMA (asymmetrical dimethylarginine), we hypothesized that the ratio between L-arginine and ADMA could be affected by experimental inflammation... Low plasma vitamin B-6 concentrations and modulation of coronary artery disease risk American Journal of Clinical Nutrition Conclusion: Low plasma PLP concentrations are inversely related to major markers of inflammation and independently associated with increased CAD risk...

95. Interesting Case No. 1 - Loyola University's Department Of Pathology Prepared by Karen Thompson, MD, and Meena Gujrati, MD. The diagnosis is cerebrotendinousxanthomatosis (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

96. CNR-PFI UO FEDERICO Antonio Geriat., 1994, suppl. 4 1318; FEDERICO A, DOTTI MT, LORÈ F, NUTI N, CerebrotendinousXanthomatosis pathophysiological study on bone metabolism, J. Neurol. 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

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