174 related articles for article (PubMed ID: 9746367)
21. Hammerhead ribozymes targeted to the FBN1 mRNA can discriminate a single base mismatch between ribozyme and target.
Phylactou LA; Tsipouras P; Kilpatrick MW
Biochem Biophys Res Commun; 1998 Aug; 249(3):804-10. PubMed ID: 9731217
[TBL] [Abstract][Full Text] [Related]
22. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.
Wang M; Price C; Han J; Cisler J; Imaizumi K; Van Thienen MN; DePaepe A; Godfrey M
Hum Mol Genet; 1995 Apr; 4(4):607-13. PubMed ID: 7633409
[TBL] [Abstract][Full Text] [Related]
23. Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
Chikumi H; Yamamoto T; Ohta Y; Nanba E; Nagata K; Ninomiya H; Narasaki K; Katoh T; Hisatome I; Ono K; Tanaka Y; Kuroda H; Ohgi S
J Hum Genet; 2000; 45(2):115-8. PubMed ID: 10721679
[TBL] [Abstract][Full Text] [Related]
24. Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.
Raghunath M; Kielty CM; Steinmann B
J Mol Biol; 1995 May; 248(5):901-9. PubMed ID: 7760331
[TBL] [Abstract][Full Text] [Related]
25. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end.
Corson GM; Chalberg SC; Dietz HC; Charbonneau NL; Sakai LY
Genomics; 1993 Aug; 17(2):476-84. PubMed ID: 7691719
[TBL] [Abstract][Full Text] [Related]
26. The skipping of constitutive exons in vivo induced by nonsense mutations.
Dietz HC; Valle D; Francomano CA; Kendzior RJ; Pyeritz RE; Cutting GR
Science; 1993 Jan; 259(5095):680-3. PubMed ID: 8430317
[TBL] [Abstract][Full Text] [Related]
27. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.
Liu W; Qian C; Francke U
Nat Genet; 1997 Aug; 16(4):328-9. PubMed ID: 9241263
[No Abstract] [Full Text] [Related]
28. An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
Guo DC; Gupta P; Tran-Fadulu V; Guidry TV; Leduc MS; Schaefer FV; Milewicz DM
J Hum Genet; 2008; 53(11-12):1007-1011. PubMed ID: 18795226
[TBL] [Abstract][Full Text] [Related]
29. A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
Lönnqvist L; Karttunen L; Rantamäki T; Kielty C; Raghunath M; Peltonen L
Genomics; 1996 Sep; 36(3):468-75. PubMed ID: 8884270
[TBL] [Abstract][Full Text] [Related]
30. An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.
Xiao Y; Yang KQ; Zhou XL; Shen YQ; Lu CX; Zhang X
Clin Chim Acta; 2015 Mar; 442():84-6. PubMed ID: 25636182
[No Abstract] [Full Text] [Related]
31. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.
Milewicz DM; Duvic M
Am J Hum Genet; 1994 Mar; 54(3):447-53. PubMed ID: 8116614
[TBL] [Abstract][Full Text] [Related]
32. A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
Booms P; Withers AP; Boxer M; Kaufmann UC; Hagemeier C; Vetter U; Robinson PN
Hum Genet; 1997 Aug; 100(2):195-200. PubMed ID: 9254848
[TBL] [Abstract][Full Text] [Related]
33. Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts.
Kilpatrick MW; Phylactou LA; Godfrey M; Wu CH; Wu GY; Tsipouras P
Hum Mol Genet; 1996 Dec; 5(12):1939-44. PubMed ID: 8968747
[TBL] [Abstract][Full Text] [Related]
34. Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
Howarth R; Yearwood C; Harvey JF
Genet Test; 2007; 11(2):146-52. PubMed ID: 17627385
[TBL] [Abstract][Full Text] [Related]
35. Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
Whiteman P; Handford PA
Hum Mol Genet; 2003 Apr; 12(7):727-37. PubMed ID: 12651868
[TBL] [Abstract][Full Text] [Related]
36. Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52.
Cale JM; Greer K; Fletcher S; Wilton SD
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33801742
[TBL] [Abstract][Full Text] [Related]
37. Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.
Chao SC; Chen JS; Tsai CH; Lin JM; Lin YJ; Sun HS
Clin Genet; 2010 May; 77(5):453-63. PubMed ID: 20132243
[TBL] [Abstract][Full Text] [Related]
38. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
Adès LC; Haan EA; Colley AF; Richard RI
J Med Genet; 1996 Aug; 33(8):665-71. PubMed ID: 8863159
[TBL] [Abstract][Full Text] [Related]
39. In vivo studies of mutant fibrillin-1 microfibrils.
Charbonneau NL; Carlson EJ; Tufa S; Sengle G; Manalo EC; Carlberg VM; Ramirez F; Keene DR; Sakai LY
J Biol Chem; 2010 Aug; 285(32):24943-55. PubMed ID: 20529844
[TBL] [Abstract][Full Text] [Related]
40. Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
Rommel K; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2002 Nov; 20(5):406-7. PubMed ID: 12402346
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]