175 related articles for article (PubMed ID: 9548584)
1. 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; 39(3):509-17. PubMed ID: 9548584
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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; 37(43):15050-6. PubMed ID: 9790667
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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; 37(3):662-72. PubMed ID: 8728327
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.
Leitersdorf E; Reshef A; Meiner V; Levitzki R; Schwartz SP; Dann EJ; Berkman N; Cali JJ; Klapholz L; Berginer VM
J Clin Invest; 1993 Jun; 91(6):2488-96. PubMed ID: 8514861
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
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; 38(5):870-9. PubMed ID: 9186905
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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; 46(2):571-4. PubMed ID: 8614539
[TBL] [Abstract][Full Text] [Related]
17. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A; Hoefsloot LH; Steenbergen GC; Theelen JP; Wevers RA; Gabreëls FJ; van Engelen BG; van den Heuvel LP
Brain; 2000 May; 123 ( Pt 5)():908-19. PubMed ID: 10775536
[TBL] [Abstract][Full Text] [Related]
18. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
Lamon-Fava S; Schaefer EJ; Garuti R; Salen G; Calandra S
Clin Genet; 2002 Mar; 61(3):185-91. PubMed ID: 12000359
[TBL] [Abstract][Full Text] [Related]
19. Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.
Hansson M; Olin M; Floren CH; von Bahr S; van't Hooft F; Meaney S; Eggertsen G; Björkhem I
J Intern Med; 2007 May; 261(5):504-10. PubMed ID: 17444890
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]