174 related articles for article (PubMed ID: 9746367)
1. Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.
Gibson MA; Ellis SL; Ades LC; Haan E; Cleary EG
Eur J Biochem; 1998 Aug; 256(1):221-8. PubMed ID: 9746367
[TBL] [Abstract][Full Text] [Related]
2. Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome.
McGrory J; Cole WG
Clin Genet; 1999 Feb; 55(2):118-21. PubMed ID: 10189089
[TBL] [Abstract][Full Text] [Related]
3. Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Tjeldhorn L; Amundsen SS; Barøy T; Rand-Hendriksen S; Geiran O; Frengen E; Paus B
BMC Med Genet; 2015 Dec; 16():113. PubMed ID: 26684006
[TBL] [Abstract][Full Text] [Related]
4. Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
Raghunath M; Kielty CM; Kainulainen K; Child A; Peltonen L; Steinmann B
Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):889-96. PubMed ID: 7945217
[TBL] [Abstract][Full Text] [Related]
5. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.
Putnam EA; Park ES; Aalfs CM; Hennekam RC; Milewicz DM
Am J Hum Genet; 1997 Apr; 60(4):818-27. PubMed ID: 9106527
[TBL] [Abstract][Full Text] [Related]
6. Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
Hutchinson S; Wordsworth BP; Handford PA
Hum Genet; 2001 Oct; 109(4):416-20. PubMed ID: 11702223
[TBL] [Abstract][Full Text] [Related]
7. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
Babcock D; Gasner C; Francke U; Maslen C
Hum Genet; 1998 Jul; 103(1):22-8. PubMed ID: 9737771
[TBL] [Abstract][Full Text] [Related]
8. A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.
Caputi M; Kendzior RJ; Beemon KL
Genes Dev; 2002 Jul; 16(14):1754-9. PubMed ID: 12130535
[TBL] [Abstract][Full Text] [Related]
9. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.
Liu W; Qian C; Comeau K; Brenn T; Furthmayr H; Francke U
Hum Mol Genet; 1996 Oct; 5(10):1581-7. PubMed ID: 8894692
[TBL] [Abstract][Full Text] [Related]
10. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
Milewicz DM; Grossfield J; Cao SN; Kielty C; Covitz W; Jewett T
J Clin Invest; 1995 May; 95(5):2373-8. PubMed ID: 7738200
[TBL] [Abstract][Full Text] [Related]
11. FBN1 exon 2 splicing error in a patient with Marfan syndrome.
Guo D; Tan FK; Cantu A; Plon SE; Milewicz DM
Am J Med Genet; 2001 Jun; 101(2):130-4. PubMed ID: 11391655
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.
Godfrey M; Vandemark N; Wang M; Velinov M; Wargowski D; Tsipouras P; Han J; Becker J; Robertson W; Droste S
Am J Hum Genet; 1993 Aug; 53(2):472-80. PubMed ID: 8101042
[TBL] [Abstract][Full Text] [Related]
13. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection.
Dietz HC; Kendzior RJ
Nat Genet; 1994 Oct; 8(2):183-8. PubMed ID: 7842017
[TBL] [Abstract][Full Text] [Related]
14. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
Schrijver I; Liu W; Brenn T; Furthmayr H; Francke U
Am J Hum Genet; 1999 Oct; 65(4):1007-20. PubMed ID: 10486319
[TBL] [Abstract][Full Text] [Related]
15. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
Eldadah ZA; Brenn T; Furthmayr H; Dietz HC
J Clin Invest; 1995 Feb; 95(2):874-80. PubMed ID: 7860770
[TBL] [Abstract][Full Text] [Related]
16. [Fibrillin-1 gene mutation in Chinese patients with Marfan syndrome and its gene diagnosis by haplotype analysis].
Wang B; Hu DX; Xia JH; Li Q; Lu GH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb; 20(1):1-4. PubMed ID: 12579488
[TBL] [Abstract][Full Text] [Related]
17. A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
Karttunen L; Raghunath M; Lönnqvist L; Peltonen L
Am J Hum Genet; 1994 Dec; 55(6):1083-91. PubMed ID: 7977366
[TBL] [Abstract][Full Text] [Related]
18. A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
Bateman JF; Chan D; Moeller I; Hannagan M; Cole WG
Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
[TBL] [Abstract][Full Text] [Related]
19. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
Aoyama T; Francke U; Dietz HC; Furthmayr H
J Clin Invest; 1994 Jul; 94(1):130-7. PubMed ID: 8040255
[TBL] [Abstract][Full Text] [Related]
20. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.
Aoyama T; Tynan K; Dietz HC; Francke U; Furthmayr H
Hum Mol Genet; 1993 Dec; 2(12):2135-40. PubMed ID: 8111384
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
