Literature DB >> 9399842

Marfan Database (third edition): new mutations and new routines for the software.

G Collod-Béroud1, C Béroud, L Ades, C Black, M Boxer, D J Brock, K J Holman, A de Paepe, U Francke, U Grau, C Hayward, H G Klein, W Liu, L Nuytinck, L Peltonen, A B Alvarez Perez, T Rantamäki, C Junien, C Boileau.   

Abstract

The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping disorders. The third version of the Marfan database contains 137 entries. The software has been modified to accommodate four new routines and is now accessible on the World Wide Web at http://www.umd.necker.fr

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Year:  1998        PMID： 9399842      PMCID： PMC147226          DOI： 10.1093/nar/26.1.229

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  44 in total

1.  Partial sequence of a candidate gene for the Marfan syndrome.

Authors:  C L Maslen; G M Corson; B K Maddox; R W Glanville; L Y Sakai
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

2.  Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.

Authors:  W Liu; C Qian; U Francke
Journal:  Nat Genet       Date:  1997-08       Impact factor: 38.330

3.  Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.

Authors:  M Wang; J Y Wang; J Cisler; K Imaizumi; B K Burton; M C Jones; J J Lamberti; M Godfrey
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

4.  A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

Authors:  D M Milewicz; J Grossfield; S N Cao; C Kielty; W Covitz; T Jewett
Journal:  J Clin Invest       Date:  1995-05       Impact factor: 14.808

5.  Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

Authors:  D M Milewicz; K Michael; N Fisher; J S Coselli; T Markello; A Biddinger
Journal:  Circulation       Date:  1996-12-01       Impact factor: 29.690

6.  A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.

Authors:  C Hayward; M E Porteous; D J Brock
Journal:  Mol Cell Probes       Date:  1994-08       Impact factor: 2.365

7.  Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Authors:  G Nijbroek; S Sood; I McIntosh; C A Francomano; E Bull; L Pereira; F Ramirez; R E Pyeritz; H C Dietz
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

8.  Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

Authors:  S Sood; Z A Eldadah; W L Krause; I McIntosh; H C Dietz
Journal:  Nat Genet       Date:  1996-02       Impact factor: 38.330

9.  Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

Authors:  M Wang; C Price; J Han; J Cisler; K Imaizumi; M N Van Thienen; A DePaepe; M Godfrey
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150

10.  Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.

Authors:  C M Kielty; T Rantamäki; A H Child; C A Shuttleworth; L Peltonen
Journal:  J Cell Sci       Date:  1995-03       Impact factor: 5.285
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  20 in total

1.  Multifocal bursitis in a patient with homozygous homocystinuria.

Authors:  C Haedecke; A J Anders; H Kellner; N Weiss
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

2.  Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Authors:  Susan W Robinson; Cynthia D Morris; Elizabeth Goldmuntz; Mark D Reller; Melanie A Jones; Robert D Steiner; Cheryl L Maslen
Journal:  Am J Hum Genet       Date:  2003-03-11       Impact factor: 11.025

Review 3.  The molecular genetics of Marfan syndrome and related microfibrillopathies.

Authors:  P N Robinson; M Godfrey
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 4.  Marfan's syndrome.

Authors:  Daniel P Judge; Harry C Dietz
Journal:  Lancet       Date:  2005-12-03       Impact factor: 79.321

Review 5.  Marfan syndrome in the third Millennium.

Authors:  Gwenaëlle Collod-Béroud; Catherine Boileau
Journal:  Eur J Hum Genet       Date:  2002-11       Impact factor: 4.246

6.  Cardiovascular management of marfan syndrome in the young.

Authors:  Angela M Sharkey
Journal:  Curr Treat Options Cardiovasc Med       Date:  2006-09

7.  Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.

Authors:  Daniel P Judge; Nancy J Biery; Douglas R Keene; Jessica Geubtner; Loretha Myers; David L Huso; Lynn Y Sakai; Harry C Dietz
Journal:  J Clin Invest       Date:  2004-07       Impact factor: 14.808

8.  Effects of proline cis-trans isomerization on TB domain secondary structure.

Authors:  X Yuan; J M Werner; V Knott; P A Handford; I D Campbell; K Downing
Journal:  Protein Sci       Date:  1998-10       Impact factor: 6.725

9.  Switch region for pathogenic structural change in conformational disease and its prediction.

Authors:  Xin Liu; Ya-Pu Zhao
Journal:  PLoS One       Date:  2010-01-11       Impact factor: 3.240

10.  Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome.

Authors:  Ronald V Lacro; Harry C Dietz; Lisa M Wruck; Timothy J Bradley; Steven D Colan; Richard B Devereux; Gloria L Klein; Jennifer S Li; L LuAnn Minich; Stephen M Paridon; Gail D Pearson; Beth F Printz; Reed E Pyeritz; Elizabeth Radojewski; Mary J Roman; J Philip Saul; Mario P Stylianou; Lynn Mahony
Journal:  Am Heart J       Date:  2007-10       Impact factor: 4.749
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