Citations for
1MCCR, SOX21, TGFB2
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.
Erjavec E, Angée C, Hadjadj D, Passet B, David P, Kostic C, Dodé E, Zanlonghi X, Cagnard N, Nedelec B, Crippa SV, Bole-Feysot C, Zarhrate M, Creuzet S, Castille J, Vilotte JL, Calvas P, Plaisancié J, Chassaing N, Kaplan J, Rozet JM, Fares Taie L.
Am J Hum Genet. Oct 3;111(10):2265-2282. doi: 10.1016/j.ajhg.2024.08.019. Epub 2024 Sep 17. 2024
2LDS4, TGFB2
Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
Fry D, Groepper D, MacCarrick G, Demo EM, Thomas MJ, Wilkes MJ, Lyons MJ, Tucker ME, Steding C, Fleischer J.
Am J Med Genet A Jul;188(7):2237-2241. doi: 10.1002/ajmg.a.62758. Epub 2022 Apr 15. 2022
3TGFB2, TGFB3
TGFβ2 and TGFβ3 isoforms drive fibrotic disease pathogenesis
Sun T, Huang Z, Liang WC, Yin J, Lin WY, Wu J, Vernes JM, Lutman J, Caplazi P, Jeet S, Wong T, Wong M, DePianto DJ, Morshead KB, Sun KH, Modrusan Z, Vander Heiden JA, Abbas AR, Zhang H, Xu M, N'Diaye EN, Roose-Girma M, Wolters PJ, Yadav R, Sukumaran S, Ghilardi N, Corpuz R, Emson C, Meng YG, Ramalingam TR, Lupardus P, Brightbill HD, Seshasayee D, Wu Y, Arron JR.
Sci Transl Med. Aug 4;13(605):eabe0407. doi: 10.1126/scitranslmed.abe040 2021
4LDS4, TGFB2
Corneal thinning and cornea guttata in patients with mutations in TGFB2.
Eghrari AO, Rasooly MM, Fliotsos MJ, Kinard J, Odozor O, Cunningham D, Bishop RJ, Guerrerio AL, Frischmeyer-Guerrerio PA.
Can J Ophthalmol. Aug;55(4):336-341. doi: 10.1016/j.jcjo.2020.03.007. Epub 2020 Apr 16. 2020
5LDS4, TGFB2
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.
Al Maskari R, Yasmin, Cleary S, Figg N, Mehta S, Rassl D, Wilkinson I, O'Shaughnessy KM.
Eur J Hum Genet. Jan;25(1):157-160. doi: 10.1038/ejhg.2016.143. Epub 2016 Oct 26. 2016
6KLF10, TGFB2, TRH
TGFβ2 regulates hypothalamic Trh expression through the TGFβ inducible early gene-1 (TIEG1) during fetal development.
Martínez-Armenta M, Díaz de León-Guerrero S, Catalán A, Alvarez-Arellano L, Uribe RM, Subramaniam M, Charli JL, Pérez-Martínez L.
Mol Cell Endocrinol 400:129-39. doi: 10.1016/j.mce.2014.10.021. Epub 2014 Nov 18. 2015
7HOXB7, TGFB2
HOXB7 promotes malignant progression by activating the TGFβ signaling pathway.
Liu S, Jin K, Hui Y, Fu J, Jie C, Feng S, Reisman D, Wang Q, Fan D, Sukumar S, Chen H.
Cancer Res 75(4):709-19. doi: 10.1158/0008-5472.CAN-14-3100. Epub 2014 Dec 26. 2015
8TGFB1, TGFB2, TGFB3
Role of TGF-β3 in the regulation of immune responses
Okamura T, Morita K, Iwasaki Y, Inoue M, Komai T, Fujio K, Yamamoto K.
Clin Exp Rheumatol. Jul-Aug;33(4 Suppl 92):S63-9. Epub 2015 Oct 12. 2015
9LDS4, TGFB2
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
Ritelli M, Chiarelli N, Dordoni C, Quinzani S, Venturini M, Maroldi R, Calzavara-Pinton P, Colombi M.
BMC Med Genet 15:91. doi: 10.1186/s12881-014-0091-8. 2014
10TGFB2
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M.
Clin Chim Acta 437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. 2014
11TGFB2
Human aqueous humor levels of TGF- β2: relationship with axial length.
Jia Y, Hu DN, Zhou J.
Biomed Res Int 2014:258591. doi: 10.1155/2014/258591. Epub 2014 May 20. 2014
12TGFB2
Müller glial cells inhibit proliferation of retinal endothelial cells via TGF-β2 and Smad signaling.
Yafai Y, Iandiev I, Lange J, Unterlauft JD, Wiedemann P, Bringmann A, Reichenbach A, Eichler W.
Glia 62(9):1476-85. doi: 10.1002/glia.22694. Epub 2014 May 19. 2014
13TGFB2
Müller glial cells inhibit proliferation of retinal endothelial cells via TGF-β2 and Smad signaling.
Yafai Y, Iandiev I, Lange J, Unterlauft JD, Wiedemann P, Bringmann A, Reichenbach A, Eichler W.
Glia 62(9):1476-85. doi: 10.1002/glia.22694. Epub 2014 May 19. 2014
14CTGF, GREM1, TGFB2
TGF-β2 induces transdifferentiation and fibrosis in human lens epithelial cells via regulating gremlin and CTGF.
Ma B, Kang Q, Qin L, Cui L, Pei C.
Biochem Biophys Res Commun 447(4):689-95. doi: 10.1016/j.bbrc.2014.04.068. Epub 2014 Apr 19. 2014
15LDS4, TGFB2
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, von Kodolitsch Y, Rosenberger G.
Eur J Hum Genet 22(7):944-8. doi: 10.1038/ejhg.2013.252. Epub 2013 Nov 6. 2014
16SDC2, TGFB2
Syndecan-2 is a key regulator of transforming growth factor beta 2/Smad2-mediated adhesion in fibrosarcoma cells.
Mytilinaiou M, Bano A, Nikitovic D, Berdiaki A, Voudouri K, Kalogeraki A, Karamanos NK, Tzanakakis GN.
IUBMB Life 65(2):134-43. doi: 10.1002/iub.1112. Epub 2013 Jan 7. 2013
17TGFB2
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.
Renard M, Callewaert B, Malfait F, Campens L, Sharif S, del Campo M, Valenzuela I, Mcwilliam C, Coucke P, De Paepe A, De Backer J.
Int J Cardiol 165(3):584-7. doi: 10.1016/j.ijcard.2012.09.029. Epub 2012 Oct 25. No abstract available. 2013
18LDS4, TGFB2
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM.
Nat Genet 44(8):916-21. doi: 10.1038/ng.2348. 2012
19LDS4, TGFB2
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL.
Nat Genet 44(8):922-7. doi: 10.1038/ng.2349. 2012
20HOXA10, TGFB2
HoxA10 regulates transcription of the gene encoding transforming growth factor beta2 (TGFbeta2) in myeloid cells.
Shah CA, Wang H, Bei L, Platanias LC, Eklund EA.
J Biol Chem 286(4):3161-76. Epub 2010 Nov 18. 2011
21TGFB2
Transforming growth factor-β2 increases extracellular matrix proteins in optic nerve head cells via activation of the Smad signaling pathway.
Zode GS, Sethi A, Brun-Zinkernagel AM, Chang IF, Clark AF, Wordinger RJ.
Mol Vis 17:1745-58. Epub 2011 Jun 28. 2011
22CTGF, GREM1, TGFB2
Role of TGFbeta/Smad signaling in gremlin induction of human trabecular meshwork extracellular matrix proteins.
Sethi A, Jain A, Zode GS, Wordinger RJ, Clark AF.
Invest Ophthalmol Vis Sci 52(8):5251-9. doi: 10.1167/iovs.11-7587. 2011
23CNTN2, TGFB2
TAG-1 is an inhibitor of TGFbeta2-induced neuronal death via amyloid beta precursor protein.
Tachi N, Hashimoto Y, Nawa M, Matsuoka M.
Biochem Biophys Res Commun 394(1):119-25. Epub 2010 Feb 23. 2010
24TGFB2
Expression of transforming growth factor-β2in vitreous body and adjacent tissues during prenatal development of human eye.
Sukhikh GT, Panova IG, Smirnova YA, Milyushina LA, Firsova NV, Markitantova YV, Poltavtseva RA, Zinov'eva RD.
Bull Exp Biol Med 150(1):117-21. 2010
25TGFB2
TGFβ2-mediated production of hyaluronan is important for the induction of epicardial cell differentiation and invasion.
Craig EA, Austin AF, Vaillancourt RR, Barnett JV, Camenisch TD.
Exp Cell Res 316(20):3397-405. Epub 2010 Jul 13. 2010
26TGFB2
Expression of the Arf tumor suppressor gene is controlled by Tgfbeta2 during development.
Freeman-Anderson NE, Zheng Y, McCalla-Martin AC, Treanor LM, Zhao YD, Garfin PM, He TC, Mary MN, Thornton JD, Anderson C, Gibbons M, Saab R, Baumer SH, Cunningham JM, Skapek SX.
Development 136(12):2081-9. 2009
27PAX3, TGFB2
Transcriptional regulation by Pax3 and TGFbeta2 signaling: a potential gene regulatory network in neural crest development.
Nakazaki H, Shen YW, Yun B, Reddy A, Khanna V, Mania-Farnell B, Ichi S, McLone DG, Tomita T, Mayanil CS.
Int J Dev Biol 53(1):69-79. 2009
28TGFB2
A possible link between resveratrol and TGF-beta: resveratrol induction of TGF-beta expression and signaling.
Suenaga F, Hatsushika K, Takano S, Ando T, Ohnuma Y, Ogawa H, Nakao A.
FEBS Lett 582(5):586-90. Epub 2008 Jan 31. 2008
29TGFB2
Loss of transforming growth factor-beta 2 leads to impairment of central synapse function.
Heupel K, Sargsyan V, Plomp JJ, Rickmann M, Varoqueaux F, Zhang W, Krieglstein K.
Neural Dev 3:25. 2008
30BMP7, TGFB2
Bone morphogenetic protein-7 is an antagonist of transforming growth factor-beta2 in human trabecular meshwork cells.
Fuchshofer R, Yu AH, Welge-Lussen U, Tamm ER.
Invest Ophthalmol Vis Sci 48(2):715-26. 2007
31TGFB2, CTGF
Transforming growth factor-beta2 and connective tissue growth factor in proliferative vitreoretinal diseases: possible involvement of hyalocytes and therapeutic potential of Rho kinase inhibitor.
Kita T, Hata Y, Kano K, Miura M, Nakao S, Noda Y, Shimokawa H, Ishibashi T.
Diabetes 56(1):231-8. 2007
32TGFB2, MFS2
Mutations in TGF-beta receptor type-2 cause Marfan's syndrome.
Helm J, Macdonald M.
Clin Genet 67(1):26-27. No abstract available. 2005
33MED15,NODAL,TGFB1,TGFB2,TGFB3
A component of the ARC/Mediator complex required for TGFbeta/Nodal signalling.
Kato Y, Habas R, Katsuyama Y, Naar AM, He X.
Nature 418(6898):641-6. 2002
34TGFB2, TGFB1, TGFB3, TGFBR1, TGFBR2, TGFBR3
Molecular analysis of TGF-(beta)s and their receptors in human keratinocyte cell lines of different biological behaviour.
Bachmeier BE, Ruoss I, Hagedorn HG, Nerlich AG.
Int J Mol Med 10(4):371-6. 2002
35TGFB2, TGFBR2
Two divergent signaling pathways for TGF-beta separated by a mutation of its type II receptor gene.
Lu SL, et al.
Biochem Biophys Res Commun 259(2):385-90. 1999
36TGFB2
Dinucleotide repeat polymorphism in the TGFB2 gene.
Weston MD, et al.
Hum Mol Genet 3 : 1211. 1994
37TGFB2, HLX
Linkage localization of TGFB2 and the human homeobox gene HLX1 to chromosome 1q.
Nishimura DY, et al.
Genomics 15 : 357-364. 1993
38TGFB2, TGFB3
Chromosomal mapping of genes for transforming growth factors beta-2 and beta-3 in man and mouse : dispersion of TGB-beta gene family.
Barton DE, et al.
Oncogene Res 3 : 323-331. 1988
39TGFB2
Structural and sequence analysis of TGF-beta 2 cDNA clones predicts two different precursor proteins produced by alternative mRNA splicing.
Webb NR, Madisen L, Rose TM, Purchio AF.
DNA 7(7):493-7. 1988