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Journal Abstract Search

122 related items for PubMed ID: 10519880

  • 1. Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
    Shiga K, Fukuyama R, Kimura S, Nakajima K, Fushiki S.
    J Neurol Neurosurg Psychiatry; 1999 Nov; 67(5):675-7. PubMed ID: 10519880
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  • 2. A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.
    Chen W, Kubota S, Ujike H, Ishihara T, Seyama Y.
    Biochemistry; 1998 Oct 27; 37(43):15050-6. PubMed ID: 9790667
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  • 3. Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
    Garuti R, Lelli N, Barozzini M, Tiozzo R, Dotti MT, Federico A, Ottomano AM, Croce A, Bertolini S, Calandra S.
    J Lipid Res; 1996 Jul 27; 37(7):1459-67. PubMed ID: 8827518
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  • 4. Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.
    Garuti R, Lelli N, Barozzini M, Dotti MT, Federico A, Bertolini S, Calandra S.
    J Lipid Res; 1996 Mar 27; 37(3):662-72. PubMed ID: 8728327
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  • 5. A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family.
    Okuyama E, Tomita S, Takeuchi H, Ichikawa Y.
    J Lipid Res; 1996 Mar 27; 37(3):631-9. PubMed ID: 8728324
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  • 6. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
    Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP.
    Hum Genet; 1997 Aug 27; 100(2):284-6. PubMed ID: 9254865
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  • 7. A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis.
    Ahmed MS, Afsar S, Hentati A, Ahmad A, Pasha J, Juneja T, Hung WY, Ahmad A, Choudhri A, Saya S, Siddique T.
    Neurology; 1997 Jan 27; 48(1):258-60. PubMed ID: 9008528
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  • 8. Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX).
    Chen W, Kubota S, Seyama Y.
    J Lipid Res; 1998 Mar 27; 39(3):509-17. PubMed ID: 9548584
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  • 10. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.
    Lee MH, Hazard S, Carpten JD, Yi S, Cohen J, Gerhardt GT, Salen G, Patel SB.
    J Lipid Res; 2001 Feb 27; 42(2):159-69. PubMed ID: 11181744
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  • 13. Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp).
    Nagai Y, Hirano M, Mori T, Takakura Y, Tamai S, Ueno S.
    Neurology; 1996 Feb 27; 46(2):571-4. PubMed ID: 8614539
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  • 14. Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.
    Chen W, Kubota S, Kim KS, Cheng J, Kuriyama M, Eggertsen G, Björkhem I, Seyama Y.
    J Lipid Res; 1997 May 27; 38(5):870-9. PubMed ID: 9186905
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  • 15. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
    Toba H, Fukuyama R, Sasaki M, Shiga K, Ishibashi S, Fushiki S.
    Clin Genet; 2002 Jan 27; 61(1):77-8. PubMed ID: 11903362
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  • 16. Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.
    Wakamatsu N, Hayashi M, Kawai H, Kondo H, Gotoda Y, Nishida Y, Kondo R, Tsuji S, Matsumoto T.
    J Neurol Neurosurg Psychiatry; 1999 Aug 27; 67(2):195-8. PubMed ID: 10406988
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  • 17. Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene.
    Chen W, Kubota S, Nishimura Y, Nozaki S, Yamashita S, Nakagawa T, Kameda-Takemura K, Menju M, Matsuzawa Y, Björkhem I, Eggertsen G, Seyama Y.
    Biochim Biophys Acta; 1996 Nov 15; 1317(2):119-26. PubMed ID: 8950197
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  • 19. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
    Kim KS, Kubota S, Kuriyama M, Fujiyama J, Björkhem I, Eggertsen G, Seyama Y.
    J Lipid Res; 1994 Jun 15; 35(6):1031-9. PubMed ID: 7915755
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