fibrillin 1


Gene Symbol: fibrillin 1
Description: fibrillin 1
Alias: fibrillin-1
Species: rat
Products:     fibrillin 1

Top Publications

  1. Neptune E, Frischmeyer P, Arking D, Myers L, Bunton T, Gayraud B, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33:407-11 pubmed
    ..These data indicate that matrix sequestration of cytokines is crucial to their regulated activation and signaling and that perturbation of this function can contribute to the pathogenesis of disease. ..
  2. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet. 1994;6:64-9 pubmed
    ..Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1, possibly providing new insights into genotype-phenotype comparisons...
  3. Putnam E, Cho M, Zinn A, Towbin J, Byers P, Milewicz D. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet. 1996;62:233-42 pubmed
  4. Ogawa N, Imai Y, Takahashi Y, Nawata K, Hara K, Nishimura H, et al. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Am J Cardiol. 2011;108:1801-7 pubmed publisher
  5. Tiedemann K, Batge B, Muller P, Reinhardt D. Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly. J Biol Chem. 2001;276:36035-42 pubmed
    ..These studies suggest that binding of fibrillin-1 to proteoglycan-associated heparan sulfate chains is an important step in the assembly of microfibrils. ..
  6. Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, et al. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. J Hum Genet. 2004;49:404-7 pubmed
    ..Although the number of the cases in this report is small, at least these results suggest that disease-causing mutations in exon regions of the FBN3 gene are very rare in MFS. ..
  7. Sakai L, Keene D, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol. 1986;103:2499-509 pubmed
  8. Zhang H, Apfelroth S, Hu W, Davis E, Sanguineti C, Bonadio J, et al. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol. 1994;124:855-63 pubmed
    ..Accordingly, we propose to classify the FBN1 and FBN2 gene products as a new family of extracellular proteins and to name its members fibrillin-1 and fibrillin-2, respectively. ..
  9. Zhao F, Pan X, Zhao K, Zhao C. Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. Mol Vis. 2013;19:751-8 pubmed
    ..To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes...

More Information


  1. Toyoshima T, Yamashita K, Furuichi H, Shishibori T, Itano T, Kobayashi R. Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues. J Histochem Cytochem. 1999;47:1049-56 pubmed
    ..Localization of MAGP-36 in elastic fibers coincided with the distribution of lysyl oxidase, an enzyme that plays a pivotal role in the deposition of tropoelastin. These findings suggest that MAGP-36 may be involved in elastogenesis. ..
  2. Hubmacher D, El Hallous E, Nelea V, Kaartinen M, Lee E, Reinhardt D. Biogenesis of extracellular microfibrils: Multimerization of the fibrillin-1 C terminus into bead-like structures enables self-assembly. Proc Natl Acad Sci U S A. 2008;105:6548-53 pubmed publisher
  3. Sakai L, Keene D, Glanville R, Bachinger H. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J Biol Chem. 1991;266:14763-70 pubmed
    ..Additional ultrastructural immunohistochemical data presented here suggest a model for the parallel, head-to-tail alignment of fibrillin molecules in microfibrils. ..
  4. Isogai Z, Ono R, Ushiro S, Keene D, Chen Y, Mazzieri R, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem. 2003;278:2750-7 pubmed
    ..In tissues where LTBP-1 is not expressed, LTBP-4 may substitute for LTBP-1, because the C-terminal end of LTBP-4 binds equally well to fibrillin. A model depicting the relationship between LTBP-1 and fibrillin microfibrils is proposed. ..
  5. Lee S, Knott V, Jovanovic J, Harlos K, Grimes J, Choulier L, et al. Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization. Structure. 2004;12:717-29 pubmed
    ..In light of our data, we propose a novel model for the assembly of the fibrillin microfibril and a mechanism to explain its extensibility...
  6. Pepe G, Giusti B, Evangelisti L, Porciani M, Brunelli T, Giurlani L, et al. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Clin Genet. 2001;59:444-50 pubmed
    ..It is noteworthy that the degree of the severity in the phenotype of one of our patients and another from the literature carrying a mutation in exon 41 could be explained with alterations in mRNA expression. ..
  7. Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, et al. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat. 2005;26:494 pubmed
    ..5%). Most mutations (67.9%) occurred in cbEGF-like modules. Genotype was clinically relevant for early diagnosis and conclusion of the diagnostic work-up in patients with incomplete or atypical phenotypes. ..
  8. Faivre L, Gorlin R, Wirtz M, Godfrey M, Dagoneau N, Samples J, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003;40:34-6 pubmed
    ..This study strongly suggests that AD WMS and Marfan syndrome are allelic conditions at the fibrillin-1 locus and adds to the remarkable clinical heterogeneity of type I fibrillinopathies. ..
  9. Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, et al. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat. 2005;26:529-39 pubmed
  10. Corson G, Chalberg S, Dietz H, Charbonneau N, Sakai L. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics. 1993;17:476-84 pubmed
    ..Since FBN1 is the gene responsible for Marfan syndrome, the information presented here will be useful in identifying new mutations and in understanding the function of fibrillin in the pathogenesis of the disease. ..
  11. Meng B, Li H, Yang T, Huang S, Sun X, Yuan H. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. Mol Vis. 2011;17:2421-7 pubmed
    ..To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS)...
  12. Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics. 1994;19:573-6 pubmed
    ..This provides a possible explanation for the role of this mutation in the disease pathogenesis...
  13. Bax D, Bernard S, Lomas A, Morgan A, Humphries J, Shuttleworth C, et al. Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins. J Biol Chem. 2003;278:34605-16 pubmed
  14. Sabatier L, Djokic J, Hubmacher D, Dzafik D, Nelea V, Reinhardt D. Heparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assembly. FEBS Lett. 2014;588:2890-7 pubmed publisher
    ..These data suggest that heparin/heparan sulfate controls the formation of microfibrils at the bead interaction stage. ..
  15. De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007;72:188-98 pubmed
    ..FBN1 mutation analysis is supportive for the diagnosis in mild and atypical presentations. ..
  16. Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani M, et al. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Clin Genet. 2008;74:39-46 pubmed publisher
    ..In conclusion, we were able to detect FBN1 mutations in 88% of patients with MFS and in 36% of patients with other fibrillinopathies type I, confirming that FBN1 mutations are good predictors of classic MFS. ..
  17. Liang C, Fan W, Wu S, Liu Y. Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis. 2011;17:3481-5 pubmed
    ..To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis...
  18. Takahashi T, Friedmacher F, Zimmer J, Puri P. Fibrillin-1 Expression Is Decreased in the Diaphragmatic Muscle Connective Tissue of Nitrofen-Induced Congenital Diaphragmatic Hernia. Eur J Pediatr Surg. 2017;27:26-31 pubmed publisher
  19. Francke U, Berg M, Tynan K, Brenn T, Liu W, Aoyama T, et al. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet. 1995;56:1287-96 pubmed
    ..The Gly1127Ser mutation, therefore, produces a mild form of autosomal dominantly inherited weakness of elastic tissue, which predisposes to ascending aortic aneurysm and dissection later in life. ..
  20. Hubmacher D, Reinhardt D, Plesec T, Schenke Layland K, Apte S. Human eye development is characterized by coordinated expression of fibrillin isoforms. Invest Ophthalmol Vis Sci. 2014;55:7934-44 pubmed publisher
    ..We speculate that vasculature spanning the ciliary body and lens, which elaborates fibrillin-2 and -3, may provide an initial scaffold for fibrillin assembly and zonule formation. ..
  21. Buchan J, Alvarado D, Haller G, Cruchaga C, Harms M, Zhang T, et al. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Hum Mol Genet. 2014;23:5271-82 pubmed publisher
    ..0035) and upregulation of the transforming growth factor beta pathway. Overall, these results expand our definition of fibrillin-related disorders to include AIS and open up new strategies for diagnosing and treating severe AIS...
  22. Marek I, Volkert G, Hilgers K, Bieritz B, Rascher W, Reinhardt D, et al. Fibrillin-1 and alpha8 integrin are co-expressed in the glomerulus and interact to convey adhesion of mesangial cells. Cell Adh Migr. 2014;8:389-95 pubmed publisher
  23. Schaefer L, Tsalastra W, Babelova A, Baliova M, Minnerup J, Sorokin L, et al. Decorin-mediated regulation of fibrillin-1 in the kidney involves the insulin-like growth factor-I receptor and Mammalian target of rapamycin. Am J Pathol. 2007;170:301-15 pubmed
    ..This study provides evidence for the involvement of decorin and the IGF-I receptor/mTOR/p70 S6 kinase signaling pathway in the translational regulation of fibrillin-1. ..
  24. Wang W, Han P, Zheng J, Hu F, Zhu Y, Xie J, et al. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. J Mol Med (Berl). 2013;91:37-47 pubmed publisher
    ..9 % vs 33.3 %, P?=?0.0131). Thus, we conclude that exon 47 skipping of FBN1 leads preferentially to cardiovascular defects and human ancestries influence genotype-phenotype correlation in TAAD. ..
  25. Hutchinson S, Wordsworth B, Handford P. Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Hum Genet. 2001;109:416-20 pubmed
    ..This is the first reported case of a splicing defect in FBN1 leading to the production of a full-length fibrillin-1 transcript containing a large amino acid insertion. ..
  26. Kasamatsu S, Hachiya A, Fujimura T, Sriwiriyanont P, Haketa K, Visscher M, et al. Essential role of microfibrillar-associated protein 4 in human cutaneous homeostasis and in its photoprotection. Sci Rep. 2011;1:164 pubmed publisher
    ..Taken together, our findings reveal the essential role of MFAP-4 in photoprotection and offer new therapeutic opportunities to prevent skin-associated pathologies. ..
  27. Micheal S, Khan M, Akhtar F, Weiss M, Islam F, Ali M, et al. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Mol Vis. 2012;18:1918-26 pubmed
    ..To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS)...
  28. Zhai Y, Wang W, Zhu Y, Li J, Yu Y, Lai K, et al. A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family. Int J Ophthalmol. 2015;8:855-9 pubmed publisher
    ..Our results expanded the mutation spectrum of FBN1 and enriched the overall knowledge of genotype-phenotype correlations due to FBN1 mutations. ..
  29. Qin Y, Yan J, Simpson J, Gu H, Wang L, Chen Z. Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS). Neuro Endocrinol Lett. 2007;28:629-32 pubmed
    ..The novel non-synonymous mutation, c.3022T>C (C1008R) in the TB domain of FBN1 gene, may be involved in the pathogenesis of MFS in a Han Chinese family. ..
  30. Yadin D, Robertson I, McNaught Davis J, Evans P, Stoddart D, Handford P, et al. Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly. Structure. 2013;21:1743-56 pubmed publisher
    ..These data suggest that heparan sulfate may sequester fibrillin at the cell surface via FUN-EGF3 prior to aggregation of the C terminus, thereby regulating microfibril assembly. ..
  31. Franken R, Groenink M, De Waard V, Feenstra H, Scholte A, van den Berg M, et al. Genotype impacts survival in Marfan syndrome. Eur Heart J. 2016;37:3285-3290 pubmed
    ..6, 95% CI 1.1-2.3, P = 0.014). Marfan syndrome patients with an HI mutation are at increased risk for cardiovascular death and aortic dissection compared with patients with a DN mutation. ..
  32. Kodera T, Tan F, Sasaki T, Arnett F, Bona C. Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. Gene. 2002;297:61-7 pubmed
    ..Sequence analysis revealed eight coding and 14 non-coding SNPs and other polymorphisms. Among them, a CT insertion in the 5'-untranslated region of exon A had a significant negative association with disease. ..
  33. Beene L, Wang L, Hubmacher D, Keene D, Reinhardt D, Annis D, et al. Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome. Invest Ophthalmol Vis Sci. 2013;54:8337-44 pubmed publisher
    ..wild-type, Fbn1-deficient, and Fbn2-deficient mice, as well as other species, was performed using monospecific fibrillin 1 and fibrillin 2 antibodies...
  34. Hartner A, Schaefer L, Porst M, Cordasic N, Gabriel A, Klanke B, et al. Role of fibrillin-1 in hypertensive and diabetic glomerular disease. Am J Physiol Renal Physiol. 2006;290:F1329-36 pubmed
    ..We conclude that fibrillin-1 may contribute to glomerular damage in hypertensive and diabetic kidney disease. ..
  35. Ades L, Haan E, Colley A, Richard R. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. J Med Genet. 1996;33:665-71 pubmed
    ..The A705T and C711Y mutations, at exon 16 and 17, respectively, are the first documented in the second transforming growth factor-beta 1 binding protein-like motif of FBN1. ..
  36. Lorena D, Darby I, Reinhardt D, Sapin V, Rosenbaum J, Desmouliere A. Fibrillin-1 expression in normal and fibrotic rat liver and in cultured hepatic fibroblastic cells: modulation by mechanical stress and role in cell adhesion. Lab Invest. 2004;84:203-12 pubmed
  37. Milewicz D, Dietz H, Miller D. Treatment of aortic disease in patients with Marfan syndrome. Circulation. 2005;111:e150-7 pubmed
  38. Chung A, Au Yeung K, Sandor G, Judge D, Dietz H, van Breemen C. Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. Circ Res. 2007;101:512-22 pubmed
    ..The resulting elastic fiber degeneration with deterioration of the aortic contraction and mechanical properties may explain the pathogenesis of TAA. ..
  39. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A. 2006;140:104-8; author reply 109-10 pubmed
  40. Nistala H, Lee Arteaga S, Smaldone S, Siciliano G, Carta L, Ono R, et al. Fibrillin-1 and -2 differentially modulate endogenous TGF-? and BMP bioavailability during bone formation. J Cell Biol. 2010;190:1107-21 pubmed publisher
    ..Together, these findings identify the extracellular microfibrils as critical regulators of bone formation through the modulation of endogenous TGF-? and BMP signaling...
  41. Oh M, Kim J, Beck N, Yoo H, Lee H, Kohsaka T, et al. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome. Pediatr Int. 2000;42:488-91 pubmed
    ..We identified six mutations: a 2253 del 7 b.p., N1043S, C1254S, L1421F, C1895R and S2662P. These results suggest that many different mutations are responsible for MFS in the Korean population. ..
  42. Zhao J, Jin T, Liu Q, Chen C, Hu H. Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). Ophthalmic Genet. 2013;34:21-6 pubmed publisher
    ..Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis. ..
  43. Gaikwad A, Gupta J, Tikoo K. Epigenetic changes and alteration of Fbn1 and Col3A1 gene expression under hyperglycaemic and hyperinsulinaemic conditions. Biochem J. 2010;432:333-41 pubmed publisher
    ..we have investigated the hyperinsulinaemia/hyperglycaemia-induced epigenetic changes and alteration of Fbn1 (fibrillin 1) and Col3A1 (collagen type III ?1) gene expression...
  44. Singh K, Shukla P, Rommel K, Schmidtke J, Arslan Kirchner M. Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome. Eur J Hum Genet. 2006;14:876-9 pubmed
    ..We identified five novel and one previously reported variants in the six unrelated probands and provide preliminary evidence for their role in pathogenesis. ..
  45. Hilhorst Hofstee Y, Rijlaarsdam M, Scholte A, Swart van den Berg M, Versteegh M, van der Schoot van Velzen I, et al. The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Hum Mutat. 2010;31:E1915-27 pubmed publisher
    ..The recessive nature with reduced expression of FBN1 in one of the families suggests a threshold model combined with a mild functional defect of this specific mutation. ..
  46. Miao D, Bai X, Panda D, McKee M, Karaplis A, Goltzman D. Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. Endocrinology. 2001;142:926-39 pubmed
    ..These results suggest that alterations in the Phex gene may control bone matrix mineralization indirectly by regulating the synthesis and deposition of bone matrix proteins. ..
  47. Jovanovic J, Takagi J, Choulier L, Abrescia N, Stuart D, van der Merwe P, et al. alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity. J Biol Chem. 2007;282:6743-51 pubmed
    ..Non-focal contact distribution of alpha5beta1 suggests that its engagement by fibrillin-1 may elicit a lesser degree and/or different type of intracellular signaling compared with that seen with a high affinity ligand. ..
  48. Porst M, Daniel C, Plank C, Schocklmann H, Reinhardt D, Hartner A. Induction and coexpression of latent transforming growth factor beta-binding protein-1 and fibrillin-1 in experimental glomerulonephritis. Nephron Exp Nephrol. 2006;102:e99-104 pubmed
    ..An interaction of these molecules could stabilize latent TGF-beta complexes and thus attenuate the activation of TGF-beta during this self-limited glomerular disease. ..
  49. Tan F, Arnett F, Antohi S, Saito S, Mirarchi A, Spiera H, et al. Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. J Immunol. 1999;163:1066-72 pubmed
    ..The results presented demonstrate for the first time the presence of high levels of anti-fibrillin-1 Abs in a significant portion of patients with SSc. ..
  50. Li H, Qu W, Meng B, Zhang S, Yang T, Huang S, et al. Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis. Mol Vis. 2012;18:504-11 pubmed
    ..Y754C mutation in FBN1, which is the causative mutation for EL in this family. This missense mutation introduced an additional cysteine residue by substitution of a highly conserved tyrosine residue within the cbEGF-like7 module. ..
  51. Vestentoft P, Jelnes P, Andersen J, Tran T, Jørgensen T, Rasmussen M, et al. Molecular constituents of the extracellular matrix in rat liver mounting a hepatic progenitor cell response for tissue repair. Fibrogenesis Tissue Repair. 2013;6:21 pubmed publisher
    ..Transcriptional profiling and immunodetection, including three-dimensional reconstruction, generated a detailed overview of the extracellular matrix constituents expressed in a second tier of defense to liver injury. ..
  52. Porst M, Plank C, Bieritz B, Konik E, Fees H, Dotsch J, et al. Fibrillin-1 regulates mesangial cell attachment, spreading, migration and proliferation. Kidney Int. 2006;69:450-6 pubmed
    ..We conclude that fibrillin-1 promotes mesangial cell attachment, spreading, migration, and proliferation. We speculate that fibrillin-1 may thus contribute to mesangial hypercellularity during glomerular disease. ..
  53. Schaefer L, Mihalik D, Babelova A, Krzyzankova M, Grone H, Iozzo R, et al. Regulation of fibrillin-1 by biglycan and decorin is important for tissue preservation in the kidney during pressure-induced injury. Am J Pathol. 2004;165:383-96 pubmed
    ..Our results indicate a novel role for decorin and biglycan during pressure-induced renal injury by stimulating fibrillin-1 expression. ..
  54. Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani M, Giurlani L, et al. A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. J Mol Cell Cardiol. 1997;29:1877-84 pubmed
    ..In particular, our ultimate goal was to identify the region(s) of the fibrillin 1 (FBN1) gene mainly involved in the health of the heart and of the aorta in terms of the cardiovascular system...
  55. Saito S, Kasturi K, Bona C. Genetic and immunologic features associated with scleroderma-like syndrome of TSK mice. Curr Rheumatol Rep. 1999;1:34-7 pubmed
    ..Among the other factors that may contribute to the develop- ment of hyperplasia, collagen V seems to play an important role. ..
  56. Challa P, Hauser M, Luna C, Freedman S, Pericak Vance M, Yang J, et al. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. Mol Vis. 2006;12:1009-15 pubmed
    ..To describe the clinical, ocular, and genetic findings in multiple members of a family with early-onset and bilateral lens dislocation, clinical corneal guttae, and glaucoma...
  57. Liu D, Wang C, Judge D, Halushka M, Ni J, Habashi J, et al. A Pkd1-Fbn1 genetic interaction implicates TGF-? signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2014;25:81-91 pubmed publisher
    ..In addition, we demonstrate that loss of PKD1 alone is sufficient to induce a heightened responsiveness to TGF-?. Our data link the interaction of two important diseases to a fundamental signaling pathway. ..
  58. Roark E, Keene D, Haudenschild C, Godyna S, Little C, Argraves W. The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study. J Histochem Cytochem. 1995;43:401-11 pubmed
    ..g., that it is a structural protein that contributes to the elastic properties of connective tissue fibers or that is involved with the process of fibrogenesis. ..
  59. Sui R, Wei H, Zhao J, Hu S, Wang B, Huang S, et al. [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family]. Zhonghua Yan Ke Za Zhi. 2004;40:828-31 pubmed
    ..To identify the mutation gene of a Chinese family with ectopia lentis...
  60. Tiedemann K, Boraschi Diaz I, Rajakumar I, Kaur J, Roughley P, Reinhardt D, et al. Fibrillin-1 directly regulates osteoclast formation and function by a dual mechanism. J Cell Sci. 2013;126:4187-94 pubmed publisher
  61. Wang F, Li B, Lan L, Li L. C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family. Mol Vis. 2015;21:194-200 pubmed
    ..A C596G mutation in FBN1 was identified in a Chinese family with MFS. Our results expand the spectrum of FBN1 mutations and contribute to the understanding of the role of FBN1 in the pathogenesis of Marfan syndrome. ..
  62. Collin G, Hubmacher D, Charette J, Hicks W, Stone L, Yu M, et al. Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. Hum Mol Genet. 2015;24:6958-74 pubmed publisher
    ..In summary, the Adamtsl4(tvrm267) model provides a valuable tool to further elucidate the molecular basis of zonule formation, the pathophysiology of EL and ADAMTSL4 function in the maintenance of the RPE. ..
  63. Hung C, Lin S, Lee C, Cheng H, Lin C, Chang C, et al. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis. Anal Biochem. 2009;389:102-6 pubmed publisher
    ..Our results support the use of this technology as an alternative method for the diagnosis of Marfan syndrome as well as its suitability for high-throughput mutation scanning of other large genes. ..
  64. Lemaire R, Bayle J, Mecham R, Lafyatis R. Microfibril-associated MAGP-2 stimulates elastic fiber assembly. J Biol Chem. 2007;282:800-8 pubmed