The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele, Human Molecular Genetics, vol.4, issue.10, pp.2764-2770, 2015. ,
DOI : 10.1371/journal.pgen.1000006
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections, The American Journal of Human Genetics, vol.95, issue.6, pp.736-743, 2014. ,
DOI : 10.1016/j.ajhg.2014.10.018
International nosology of heritable disorders of connective tissue, Berlin, 1986, American Journal of Medical Genetics, vol.91, issue.3, pp.581-594, 1986. ,
DOI : 10.7326/0003-4819-93-6-813
mutations in patients with Marfan syndrome or a related fibrillinopathy, Human Mutation, vol.23, issue.1, p.99, 2004. ,
DOI : 10.1002/humu.9207
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome, Nature Genetics, vol.56, issue.8, pp.916-921, 2012. ,
DOI : 10.1023/B:BILE.0000007075.24434.5e
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature, Human Mutation, vol.279, issue.10 Spec No, pp.334-341, 2009. ,
DOI : 10.1074/jbc.M402656200
Fibrillins 1 and 2 Perform Partially Overlapping Functions during Aortic Development, Journal of Biological Chemistry, vol.88, issue.12, pp.8016-8023, 2006. ,
DOI : 10.1097/00001573-200403000-00007
URL : http://www.jbc.org/content/281/12/8016.full.pdf
Studies of Mutant Fibrillin-1 Microfibrils, Journal of Biological Chemistry, vol.2, issue.32, pp.24943-24955, 2010. ,
DOI : 10.1101/gr.6.4.300
URL : http://www.jbc.org/content/285/32/24943.full.pdf
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene, Nucleic Acids Research, vol.62, issue.3, pp.147-150, 1997. ,
DOI : 10.1002/ajmg.1320290316
Generation of Fbn1 conditional null mice implicates the extracellular microfibrils in osteoprogenitor recruitment, genesis, vol.23, issue.8, pp.635-641, 2012. ,
DOI : 10.1093/nar/23.24.5080
Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5??? End, Genomics, vol.17, issue.2, pp.476-484, 1993. ,
DOI : 10.1006/geno.1993.1350
Revised diagnostic criteria for the Marfan syndrome, American Journal of Medical Genetics, vol.104, issue.4, pp.417-426, 1996. ,
DOI : 10.2214/ajr.97.1.118
Cardiovascular manifestations in men and women carrying a FBN1 mutation, European Heart Journal, vol.32, issue.18, pp.2223-2229, 2010. ,
DOI : 10.1016/S0735-1097(98)00454-9
Marfan syndrome caused by a recurrent de novo missense mutation
in the fibrillin gene, Nature, vol.352, issue.6333, pp.337-339, 1991. ,
DOI : 10.1038/352337a0
Solution Structure of a Pair of Calcium-Binding Epidermal Growth Factor-like Domains: Implications for the Marfan Syndrome and Other Genetic Disorders, Cell, vol.85, issue.4, pp.597-605, 1996. ,
DOI : 10.1016/S0092-8674(00)81259-3
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome, Journal of Medical Genetics, vol.40, issue.1, pp.34-36, 2003. ,
DOI : 10.1136/jmg.40.1.34
URL : https://hal.archives-ouvertes.fr/inserm-00143439
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion, American Journal of Medical Genetics Part A, vol.38, issue.Supp 1, pp.854-860, 2009. ,
DOI : 10.1097/00125817-200009000-00002
URL : https://hal.archives-ouvertes.fr/inserm-00396232
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study, The American Journal of Human Genetics, vol.81, issue.3, pp.454-466, 2007. ,
DOI : 10.1086/520125
URL : https://hal.archives-ouvertes.fr/inserm-00344134
Further Characterization of Proteins Associated with Elastic Fiber Microfibrils Including the Molecular Cloning of MAGP-2 (MP25), Journal of Biological Chemistry, vol.11, issue.2, pp.1096-1103, 1996. ,
DOI : 10.1016/0888-7543(91)90142-2
Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4, Matrix Biology, vol.18, issue.5, pp.469-480, 1999. ,
DOI : 10.1016/S0945-053X(99)00038-4
Key residues involved in calcium-binding motifs in EGF-like domains, Nature, vol.351, issue.6322, pp.164-167, 1991. ,
DOI : 10.1038/351164a0
Severe infantile Marfan syndrome versus neonatal Marfan syndrome, American Journal of Medical Genetics Part A, vol.163, issue.1, p.1, 2005. ,
DOI : 10.1002/ajmg.a.30979
Application of dHPLC for Mutation Detection of the Fibrillin-1 Gene for the Diagnosis of Marfan Syndrome in a National Health Service Laboratory, Genetic Testing, vol.11, issue.2, pp.146-152, 2007. ,
DOI : 10.1089/gte.2006.0514
Fibrillins: From Biogenesis of Microfibrils to Signaling Functions, Current Topics in Developmental Biology, vol.75, pp.93-123, 2006. ,
DOI : 10.1016/S0070-2153(06)75004-9
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment, Journal of Medical Genetics, vol.43, issue.1, pp.1-11, 2006. ,
DOI : 10.1136/jmg.2005.033522
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3??? end of FBN1 gene, European Journal of Medical Genetics, vol.57, issue.5, pp.230-234, 2014. ,
DOI : 10.1016/j.ejmg.2014.02.012
Dissecting the Fibrillin Microfibril: Structural Insights into Organization and Function, Structure, vol.20, issue.2, pp.215-225, 2012. ,
DOI : 10.1016/j.str.2011.12.008
URL : https://doi.org/10.1016/j.str.2011.12.008
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome, Journal of Clinical Investigation, vol.114, issue.2, pp.172-181, 2004. ,
DOI : 10.1172/JCI200420641
Fibrillin Microfibrils, Advances in Protein Chemistry, vol.70, pp.405-436, 2005. ,
DOI : 10.1016/S0065-3233(05)70012-7
URL : https://hal.archives-ouvertes.fr/hal-00523374
Solution Structure of the Third TB Domain from LTBP1 Provides Insight into Assembly of the Large Latent Complex that Sequesters Latent TGF-??, Journal of Molecular Biology, vol.334, issue.2, pp.281-291, 2003. ,
DOI : 10.1016/j.jmb.2003.09.053
Mutations in the TGF? binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias, American Journal of Human Genetics, vol.89, pp.7-14, 2011. ,
From tall to short: the role of TGF? signaling in growth and its disorders, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.160, pp.145-153, 2012. ,
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome, Nature Genetics, vol.56, issue.1, pp.85-88, 2012. ,
DOI : 10.1161/ATVBAHA.109.194548
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2, Nature Genetics, vol.167, issue.3, pp.275-281, 2005. ,
DOI : 10.1083/jcb.200403067
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome, Science Translational Medicine, vol.245, issue.25, pp.23-43, 2010. ,
DOI : 10.1074/jbc.M809348200
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953713/pdf
The revised Ghent nosology for the Marfan syndrome, Journal of Medical Genetics, vol.47, issue.7, pp.476-485, 2010. ,
DOI : 10.1136/jmg.2009.072785
URL : https://hal.archives-ouvertes.fr/hal-00557373
Microfibrils: Fine filamentous components of the tissue space, The Anatomical Record, vol.4, issue.2, pp.131-137, 1962. ,
DOI : 10.1016/0002-9394(54)90008-2
Circulating Transforming Growth Factor-?? in Marfan Syndrome, Circulation, vol.120, issue.6, pp.526-532, 2009. ,
DOI : 10.1161/CIRCULATIONAHA.108.841981
URL : http://circ.ahajournals.org/content/circulationaha/120/6/526.full.pdf
A subcutaneous lattice-like array of thick collagen is a clue to the diagnosis of stiff skin syndrome, Journal of Cutaneous Pathology, vol.28, issue.1, pp.2-4, 2012. ,
DOI : 10.1016/0190-9622(93)70072-2
The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue, Circulation, vol.11, issue.3, pp.321-342, 1955. ,
DOI : 10.1161/01.CIR.11.3.321
Heterozygous TGFBR2 mutations in Marfan syndrome, Nature Genetics, vol.55, issue.8, pp.855-860, 2004. ,
DOI : 10.1038/nrg775
URL : https://hal.archives-ouvertes.fr/inserm-00143367
Increased Vertebral Artery Tortuosity Index Is Associated With Adverse Outcomes in Children and Young Adults With Connective Tissue Disorders, Circulation, vol.124, issue.4, pp.388-396, 2011. ,
DOI : 10.1161/CIRCULATIONAHA.110.990549
Latent Transforming Growth Factor ??-binding Proteins and Fibulins Compete for Fibrillin-1 and Exhibit Exquisite Specificities in Binding Sites, Journal of Biological Chemistry, vol.44, issue.25, pp.16872-16881, 2009. ,
DOI : 10.1038/sj.emboj.7601768
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1, Proceedings of the National Academy of Sciences, vol.393, issue.6682, pp.3819-3823, 1999. ,
DOI : 10.1038/30522
URL : http://www.pnas.org/content/96/7/3819.full.pdf
Fibrillin???2 (FBN2) mutations result in the Marfan???like disorder, congenital contractural arachnodactyly, Nature Genetics, vol.2, issue.4, pp.456-458, 1995. ,
DOI : 10.1038/327339a0
Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development, Matrix Biology, vol.21, issue.8, pp.637-646, 2002. ,
DOI : 10.1016/S0945-053X(02)00100-2
Biogenesis and function of fibrillin assemblies, Cell and Tissue Research, vol.129, issue.1, pp.71-82, 2010. ,
DOI : 10.1172/JCI200422715
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819175/pdf
Molecular Genetics of Aortic Aneurysms and Aortic Dissections, pp.10-1002, 2015. ,
DOI : 10.1038/ng1721
Marfan Syndrome, 2006. ,
DOI : 10.1136/jmg.37.1.9
URL : https://hal.archives-ouvertes.fr/inserm-00143572
Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils, Journal of Biological Chemistry, vol.266, pp.14763-14770, 1991. ,
Surgical management of patients with Marfan syndrome: Evolution throughout the years, Archives of Cardiovascular Diseases, vol.105, issue.2, pp.84-90, 2012. ,
DOI : 10.1016/j.acvd.2012.01.001
URL : https://hal.archives-ouvertes.fr/hal-01681809
Microenvironmental Regulation by Fibrillin-1, PLoS Genetics, vol.22, issue.1, p.1002425, 2012. ,
DOI : 10.1371/journal.pgen.1002425.s009
URL : https://doi.org/10.1371/journal.pgen.1002425
The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?, Matrix Biology, vol.47, pp.3-12, 2015. ,
DOI : 10.1016/j.matbio.2015.05.002
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes, American Journal of Medical Genetics Part A, vol.31, issue.16, pp.1719-1725, 2006. ,
DOI : 10.1002/ajmg.a.31353
Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1, Human Mutation, vol.23, issue.4, pp.348-352, 2005. ,
DOI : 10.1111/j.1439-0442.1994.tb00075.x
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation., Genome Research, vol.6, issue.4, pp.300-313, 1996. ,
DOI : 10.1101/gr.6.4.300
Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year, Pediatric Research, vol.65, issue.3, pp.265-270, 2011. ,
DOI : 10.1086/302582
URL : https://hal.archives-ouvertes.fr/hal-01670010
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis, Nature Genetics, vol.20, issue.2, pp.121-126, 2011. ,
DOI : 10.1006/excr.2000.4932
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2, American Journal of Human Genetics, vol.59, pp.1027-1034, 1996. ,
Angiotensin II???dependent TGF-?? signaling contributes to Loeys-Dietz syndrome vascular pathogenesis, Journal of Clinical Investigation, vol.124, issue.1, pp.448-460, 2014. ,
DOI : 10.1172/JCI69666DS1
URL : http://www.jci.org/articles/view/69666/files/pdf
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma, Nature, vol.3, issue.7474, pp.126-130, 2013. ,
DOI : 10.1038/35060120
Noncanonical TGF?? Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice, Science, vol.218, issue.1, pp.358-361, 2011. ,
DOI : 10.1002/path.2516
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111087/pdf
Structure of the Integrin Binding Fragment from Fibrillin-1 Gives New Insights into Microfibril Organization, Structure, vol.12, issue.4, pp.717-729, 2004. ,
DOI : 10.1016/j.str.2004.02.023
URL : https://hal.archives-ouvertes.fr/hal-00264690
Homo- and Heterotypic Fibrillin-1 and -2 Interactions Constitute the Basis for the Assembly of Microfibrils, Journal of Biological Chemistry, vol.264, issue.52, pp.50795-50804, 2002. ,
DOI : 10.1016/S0248-4900(98)80018-X
A novel fibronectin binding site required for fibronectin fibril growth during matrix assembly, The Journal of Cell Biology, vol.257, issue.5, pp.1081-1088, 2001. ,
DOI : 10.3109/15419069609014219
URL : http://jcb.rupress.org/content/jcb/154/5/1081.full.pdf
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils, The Journal of Cell Biology, vol.129, issue.4, pp.1165-1176, 1995. ,
DOI : 10.1083/jcb.129.4.1165