153 related articles for article (PubMed ID: 9008528)
1. 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; 48(1):258-60. PubMed ID: 9008528
[TBL] [Abstract][Full Text] [Related]
2. 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; 37(3):631-9. PubMed ID: 8728324
[TBL] [Abstract][Full Text] [Related]
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; 37(7):1459-67. PubMed ID: 8827518
[TBL] [Abstract][Full Text] [Related]
4. 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; 1317(2):119-26. PubMed ID: 8950197
[TBL] [Abstract][Full Text] [Related]
5. 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; 42(2):159-69. PubMed ID: 11181744
[TBL] [Abstract][Full Text] [Related]
6. 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
[TBL] [Abstract][Full Text] [Related]
7. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
Verrips A; Steenbergen-Spanjers GC; Luyten JA; van den Heuvel LP; Keyser A; Gabreëls FJ; Wevers RA
Hum Genet; 1996 Dec; 98(6):735-7. PubMed ID: 8931710
[TBL] [Abstract][Full Text] [Related]
8. 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; 38(5):870-9. PubMed ID: 9186905
[TBL] [Abstract][Full Text] [Related]
9. 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; 67(2):195-8. PubMed ID: 10406988
[TBL] [Abstract][Full Text] [Related]
10. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients.
Chen W; Kubota S; Teramoto T; Nishimura Y; Yonemoto K; Seyama Y
Biochemistry; 1998 Mar; 37(13):4420-8. PubMed ID: 9521761
[TBL] [Abstract][Full Text] [Related]
11. Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis.
Chen W; Kubota S; Teramoto T; Ishida S; Ohsawa N; Katayama T; Takeda T; Kuroda K; Yahara O; Kusuhara T; Neshige R; Seyama Y
Neurology; 1998 Sep; 51(3):865-7. PubMed ID: 9748042
[TBL] [Abstract][Full Text] [Related]
12. Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.
Sperhake JP; Matschke J; Orth U; Gal A; Püschel K
Int J Legal Med; 2000; 113(2):110-3. PubMed ID: 10741487
[TBL] [Abstract][Full Text] [Related]
13. 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; 100(2):284-6. PubMed ID: 9254865
[TBL] [Abstract][Full Text] [Related]
14. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.
Lorincz MT; Rainier S; Thomas D; Fink JK
Arch Neurol; 2005 Sep; 62(9):1459-63. PubMed ID: 16157755
[TBL] [Abstract][Full Text] [Related]
15. Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family.
Segev H; Reshef A; Clavey V; Delbart C; Routier G; Leitersdorf E
Hum Genet; 1995 Feb; 95(2):238-40. PubMed ID: 7860076
[TBL] [Abstract][Full Text] [Related]
16. 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; 35(6):1031-9. PubMed ID: 7915755
[TBL] [Abstract][Full Text] [Related]
17. Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
Garuti R; Croce MA; Tiozzo R; Dotti MT; Federico A; Bertolini S; Calandra S
J Lipid Res; 1997 Nov; 38(11):2322-34. PubMed ID: 9392430
[TBL] [Abstract][Full Text] [Related]
18. New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools.
Wang PW; Chang WN; Lu CH; Chao D; Schrag C; Pan TL
Proteomics; 2006 Feb; 6(3):1029-37. PubMed ID: 16372260
[TBL] [Abstract][Full Text] [Related]
19. Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.
Rystedt E; Olin M; Seyama Y; Buchmann M; Berstad A; Eggertsen G; Björkhem I
J Intern Med; 2002 Sep; 252(3):259-64. PubMed ID: 12270007
[TBL] [Abstract][Full Text] [Related]
20. 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; 61(1):77-8. PubMed ID: 11903362
[No Abstract] [Full Text] [Related]
[Next] [New Search]
