| 1 | CCA, FBN2
|
| Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.
|
| Lavillaureix A, Heide S, Chantot-Bastaraud S, Marey I, Keren B, Grigorescu R, Jouannic JM, Gelot A, Whalen S, Héron D, Siffroi JP.
|
| Clin Genet 92(5):556-558. doi: 10.1111/cge.13062. Epub 2017 Aug 1. No abstract available.
2017
|
| 2 | FBN2, POSTN, SP7
|
| Induction of fibrillin-2 and periostin expression in Osterix-knockdown MC3T3-E1 cells.
|
| Lee SJ, Lee EH, Park SY, Kim JE.
|
| Gene 596:123-129. doi: 10.1016/j.gene.2016.10.018. Epub 2016 Oct 14.
2017
|
| 3 | FBN2
|
| Fibrillin 2 is upregulated in the ascending aorta of patients with bicuspid aortic valve.
|
| Rueda-Martínez C, Lamas O, Mataró MJ, Robledo-Carmona J, Sánchez-Espín G, Moreno-Santos I, Carrasco-Chinchilla F, Gallego P, Such-Martínez M, de Teresa E, Jiménez-Navarro M, Fernández B.
|
| Eur J Cardiothorac Surg 51(1):104-111. doi: 10.1093/ejcts/ezw277. Epub 2016 Sep 15.
2017
|
| 4 | FBN1, FBN2
|
| Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development.
|
| Kira-Tatsuoka M, Oka K, Tsuruga E, Ozaki M, Sawa Y.
|
| J Periodontal Res 50(6):714-20. doi: 10.1111/jre.12256. Epub 2014 Dec 18.
2015
|
| 5 | FBN2
|
| Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.
|
| Sengle G, Carlberg V, Tufa SF, Charbonneau NL, Smaldone S, Carlson EJ, Ramirez F, Keene DR, Sakai LY.
|
| PLoS Genet 11(6):e1005340. doi: 10.1371/journal.pgen.1005340. eCollection 2015 Jun.
2015
|
| 6 | FBN2
|
| Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
|
| Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A.
|
| Hum Mol Genet 23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4.
2014
|
| 7 | FBN2
|
| Ocular phenotype of Fbn2-null mice.
|
| Shi Y, Tu Y, Mecham RP, Bassnett S.
|
| Invest Ophthalmol Vis Sci 54(12):7163-73. doi: 10.1167/iovs.13-12687.
2013
|
| 8 | FBN1, FBN2, FBN3
|
| Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.
|
| Davis MR, Summers KM.
|
| Mol Genet Metab 107(4):635-47. doi: 10.1016/j.ymgme.2012.07.023. Epub 2012 Aug 3.
2012
|
| 9 | FBN1, FBN2
|
| Fibrillin-1 and fibrillin-2 are essential for formation of thick oxytalan fibers in human nonpigmented ciliary epithelial cells in vitro.
|
| Yamanouchi K, Tsuruga E, Oka K, Sawa Y, Ishikawa H.
|
| Connect Tissue Res 53(1):14-20. doi: 10.3109/03008207.2011.602767. Epub 2011 Aug 18.
2012
|
| 10 | FBN2, MATN2, MATN4, TNC
|
| Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies
|
| Szalai E, Felszeghy S, Hegyi Z, Módis L Jr, Berta A, Kaarniranta K.
|
| Mol Vis. 18:1927-36. Epub 2012 Jul 18. 2012
|
| 11 | FBN1, FBN2
|
| Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils.
|
| Arteaga-Solis E, Sui-Arteaga L, Kim M, Schaffler MB, Jepsen KJ, Pleshko N, Ramirez F.
|
| Matrix Biol 30(3):188-94. doi: 10.1016/j.matbio.2011.03.004. Epub 2011 Mar 29.
2011
|
| 12 | ATP5MC2, CCDC8, CORO6, FBN2, KLHL35, PCDH8, QPCT, SCUBE3, ZSCAN18
|
| Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma.
|
| Morris MR, Ricketts CJ, Gentle D, McRonald F, Carli N, Khalili H, Brown M, Kishida T, Yao M, Banks RE, Clarke N, Latif F, Maher ER.
|
| Oncogene ncogene. 2010 Dec 6. [Epub ahead of print]PMID: 21132003 2010
|
| 13 | FBN1, FBN2
|
| Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation.
|
| Nistala H, Lee-Arteaga S, Smaldone S, Siciliano G, Carta L, Ono RN, Sengle G, Arteaga-Solis E, Levasseur R, Ducy P, Sakai LY, Karsenty G, Ramirez F.
|
| J Cell Biol 190(6):1107-21. doi: 10.1083/jcb.201003089.
2010
|
| 14 | FBN1, FBN2
|
| Microfibril structure masks fibrillin-2 in postnatal tissues.
|
| Charbonneau NL, Jordan CD, Keene DR, Lee-Arteaga S, Dietz HC, Rifkin DB, Ramirez F, Sakai LY.
|
| J Biol Chem 285(26):20242-51. doi: 10.1074/jbc.M109.087031. Epub 2010 Apr 19.
2010
|
| 15 | CCA, FBN2
|
| The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
|
| Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G.
|
| Hum Mutat 30(2):181-90.
2009
|
| 16 | CLDN6, FBN2, RBP4, TFPI2, TMEFF2
|
| Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma.
|
| Tsunoda S, Smith E, De Young NJ, Wang X, Tian ZQ, Liu JF, Jamieson GG, Drew PA.
|
| Oncol Rep 21(4):1067-73.
2009
|
| 17 | FBN1, FBN2
|
| Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration.
|
| McGowan SE, Holmes AJ, Mecham RP, Ritty TM.
|
| Am J Respir Cell Mol Biol 38(4):435-45. Epub 2007 Nov 15.
2008
|
| 18 | CCA, FBN2
|
| FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
|
| Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N.
|
| Am J Med Genet A 143(7):694-8. 2007
|
| 19 | FBN1, MFS1, FBN2, CCA, TGFBR2, MFS2
|
| Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
|
| Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N.
|
| Am J Med Genet A 140(16):1719-25. 2006
|
| 20 | FBN2, LOX, FGF1
|
| Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.
|
| Yoneyama T, Kasuya H, Onda H, Akagawa H, Jinnai N, Nakajima T, Hori T, Inoue I.
|
| J Hum Genet 48(6):309-14. Epub 2003 May 16. 2003
|
| 21 | CCA, FBN1, FBN2, AKAP13, LTBP1, LTBP2, LTBP3, LTBP4, MFAP5, MFAP1, MFAP2, MFAP3, MFAP4, MFS1
|
| The molecular genetics of Marfan syndrome and related microfibrillopathies.
|
| Robinson PN, Godfrey M.
|
| J Med Genet 37(1):9-25. Review. 2000
|
| 22 | CCA, FBN2
|
| Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
|
| Park ES, et al.
|
| Am J Med Genet 78 : 350-355. 1998
|
| 23 | CCA, FBN2
|
| A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
|
| Babcock D, et al.
|
| Hum Genet 103 : 22-28. 1998
|
| 24 | CCA, FBN2
|
| Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.
|
| Putnam EA, et al.
|
| Am J Hum Genet 60 : 818-827. 1997
|
| 25 | CCA, FBN2
|
| A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
|
| Maslen C, Babcock D, Raghunath M, Steinmann B.
|
| Am J Hum Genet 60(6):1389-98. 1997
|
| 26 | CCA, FBN2
|
| Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing fo exon 34 of fibrillin-2.
|
| Wang M, et al.
|
| Am J Hum Genet 59 : 1027-1034. 1996
|
| 27 | CCA, FBN2
|
| Fibrillin-2(FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
|
| Putnam EA, et al.
|
| Nat Genet 11 : 456-458. 1995
|
| 28 | FBN1, FBN2
|
| Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.
|
| Li X, et al.
|
| Genomics 18 : 667-672. 1993
|
| 29 | FBN1, FBN2
|
| Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2).
|
| Biddinger AL, et al.
|
| Hum Mol Genet 2 : 1323. 1993
|
| 30 | FBN1, FBN2
|
| Genetic map of fibrillin-15, Marfan syndrome, ectopia lentis, limb-girdle muscular dystrophy on 15q; map of markers flanking fibrillin-5 and congenital contractural arachnodactyly on 5q.
|
| Tsipouras P, et al.
|
| Am J Hum Genet 51 : A203. 1992
|
| 31 | MFS1, CCA, FBN1, FBN2
|
| Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
|
| Lee B, et al.
|
| Nature 352 : 330-334. 1991
|