| 1 | CLCDSF, LTBP1
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| Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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| Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.
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| Am J Hum Genet. Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14. 2021
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| 2 | FBLN1, LTBP1
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| Fibulin-1c regulates transforming growth factor-β activation in pulmonary tissue fibrosis.
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| Liu G, Cooley MA, Jarnicki AG, Borghuis T, Nair PM, Tjin G, Hsu AC, Haw TJ, Fricker M, Harrison CL, Jones B, Hansbro NG, Wark PA, Horvat JC, Argraves WS, Oliver BG, Knight DA, Burgess JK, Hansbro PM.
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| JCI Insight. Jul 25;5(16):e124529. doi: 10.1172/jci.insight.124529 2019
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| 3 | LTBP1, NOTCH1, TGFBR1, TGFBR3
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| Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
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| Sticchi E, De Cario R, Magi A, Giglio S, Provenzano A, Nistri S, Pepe G, Giusti B.
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| Biomed Res Int. Sep 5;2018:8386123. doi: 10.1155/2018/8386123. 2018
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| 4 | FBN1, LTBP1
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| The N-Terminal Region of Fibrillin-1 Mediates a Bipartite Interaction with LTBP1.
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| Robertson IB, Dias HF, Osuch IH, Lowe ED, Jensen SA, Redfield C, Handford PA.
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| Structure Aug 1;25(8):1208-1221.e5. doi: 10.1016/j.str.2017.06.003. Epub 2017 Jun 29. 2017
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| 5 | LTBP1
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| Latent TGF-β binding protein-1 deficiency decreases female fertility.
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| Dietzel E, Weiskirchen S, Floehr J, Horiguchi M, Todorovic V, Rifkin DB, Jahnen-Dechent W, Weiskirchen R.
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| Biochem Biophys Res Commun. Jan 22;482(4):1387-1392. doi: 10.1016/j.bbrc.2016.12.046. Epub 2016 Dec 9. 2017
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| 6 | LTBP1, LTBP2
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| Latent transforming growth factor-β binding proteins (LTBP-1 and LTBP-2) and gingiva keratinization
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| Chiang MS, Yang JR, Liao SC, Hsu CC, Hsu CW, Yuan K.
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| Oral Dis. Sep;21(6):762-9. doi: 10.1111/odi.12344. Epub 2015 Apr 28 2015
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| 7 | LTBP1
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| Backbone ¹H, ¹³C and ¹⁵N resonance assignment of the C-terminal EGF-cbEGF pair of LTBP1 and flanking residues
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| Robertson IB, Handford PA, Redfield C.
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| Biomol NMR Assign Apr;8(1):159-63. doi: 10.1007/s12104-013-9474-6. Epub 2013 Mar 14. 2013
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| 8 | LTBP1
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| Expression of mRNA isoforms of latent transforming growth factor-β binding protein-1 in coronary atherosclerosis and human tissues
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| Oklü R, Hesketh R, Wicky S, Metcalfe JC.
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| Biochem Genet. Apr;49(3-4):213-25. doi: 10.1007/s10528-010-9400-x. Epub 2010 Dec 15. 2011
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| 9 | LTBP1
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| Long form of latent TGF-β binding protein 1 (Ltbp1L) regulates cardiac valve development
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| Todorovic V, Finnegan E, Freyer L, Zilberberg L, Ota M, Rifkin DB.
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| Dev Dyn. Jan;240(1):176-87. doi: 10.1002/dvdy.22521. 2011
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| 10 | LTBP1, LTBP3
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| Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells.
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| Koli K, Ryynänen MJ, Keski-Oja J.
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| Bone 43(4):679-88. Epub 2008 Jul 11.
2008
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| 11 | LTBP1, LTBP2
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| LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein.
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| Hirani R, Hanssen E, Gibson MA.
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| Matrix Biol 26(4):213-23. Epub 2007 Jan 4.
2007
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| 12 | LTBP1
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| Novel functional single nucleotide polymorphisms in the latent transforming growth factor-beta binding protein-1L promoter: effect on latent transforming growth factor-beta binding protein-1L expression level and possible prognostic significance in ovarian cancer.
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| Higashi T, Kyo S, Inoue M, Tanii H, Saijoh K.
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| J Mol Diagn 8(3):342-50. 2006
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| 13 | FTAA2, LDS1B, LTBP1, LTBP2, LTBP3, LTBP4, MFAP1, MFAP2, MFAP3, MFAP4, MFAP5, TGFBR1, TGFBR2
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| The molecular genetics of Marfan syndrome and related disorders.
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| Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M.
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| J Med Genet 43(10):769-87. Epub 2006 Mar 29. 2006
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| 14 | LTBP1
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| Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein.
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| Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, Charbonneau NL, Reinhardt DP, Rifkin DB, Sakai LY.
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| J Biol Chem 278(4):2750-7. Epub 2002 Nov 11. 2003
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| 15 | LTBP1
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| Overexpression of latent transforming growth factor-beta 1 (TGF-beta 1) binding protein 1 (LTBP-1) in association with TGF-beta 1 in ovarian carcinoma.
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| Higashi T, Sasagawa T, Inoue M, Oka R, Shuangying L, Saijoh K.
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| Jpn J Cancer Res 92(5):506-15. 2001
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| 16 | CCA, FBN1, FBN2, AKAP13, LTBP1, LTBP2, LTBP3, LTBP4, MFAP5, MFAP1, MFAP2, MFAP3, MFAP4, MFS1
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| The molecular genetics of Marfan syndrome and related microfibrillopathies.
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| Robinson PN, Godfrey M.
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| J Med Genet 37(1):9-25. Review. 2000
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| 17 | LTBP1, LTBP2, LTBP3
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| 8-Cysteine TGF-BP structural motifs are the site of covalent binding between mouse LTBP-3, LTBP-2, and latent TGF-beta 1.
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| Yin W, Fang J, Smiley E, Bonadio J.
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| Biochim Biophys Acta 1383(2):340-50. 1998
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| 18 | LTBP1
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| Latent transforming growth factor-beta 1 and its binding protein are components of extracellular matrix microfibrils.
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| Taipale J, Saharinen J, Hedman K, Keski-Oja J.
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| J Histochem Cytochem 44(8):875-89.
1996
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| 19 | LTBP1
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| Efficient association of an amino-terminally extended form of human latent transforming growth factor-beta binding protein with the extracellular matrix.
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| Olofsson A, Ichijo H, Moren A, ten Dijke P, Miyazono K, Heldin CH.
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| J Biol Chem 270(52):31294-7. 1995
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| 20 | LTBP3, LTBP1
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| Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2).
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| Li X, Yin W, Perez-Jurado L, Bonadio J, Francke U.
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| Mamm Genome 6(1):42-5. 1995
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| 21 | LTBP1
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| Assignment of the gene encoding the latent TGF-beta 1-binding protein (LTBP1) to human chromosome 2, region p12-q22.
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| Stenman G, et al.
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| Cytogenet Cell Genet 66 : 117-119. 1994
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| 22 | LTBP1
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| TGF-beta 1 binding protein : a component of the large latent complex of TGF-beta 1 with multiple repeat sequences.
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| Kanzaki T, et al.
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| Cell 61 : 1051-1061. 1990
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| 23 | LTBP1
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| TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences.
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| Kanzaki T, Olofsson A, Moren A, Wernstedt C, Hellman U, Miyazono K, Claesson-Welsh L, Heldin CH.
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| Cell 61(6):1051-61. 1990
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