Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome-Reference-Cited by-同舟云学术

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Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

Published:2007-05-10 Issue:1 Volume:122 Page:23-32
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Mátyás Gábor,Alonso Sira,Patrignani Andrea,Marti Myriam,Arnold Eliane,Magyar István,Henggeler Caroline,Carrel Thierry,Steinmann Beat,Berger Wolfgang

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-007-0371-x.pdf

Reference42 articles.

1. Adès LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B (2006) FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet A 140:1047–1058

2. Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (1999) Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics 56:70–77

3. Caputi M, Kendzior RJ Jr, Beemon KL (2002) A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. Genes Dev 16:1754–1759

4. Chaudhry SS, Cain SA, Morgan A, Dallas SL, Shuttleworth CA, Kielty CM (2007) Fibrillin-1 regulates the bioavailability of TGFbeta1. J Cell Biol 176:355–67

5. Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY (1993) Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics 17:476–484

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