| 1 | SENP1, TGFBR2
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| SUMO protease SENP1 acts as a ceRNA for TGFBR2 and thus activates TGFBR2/Smad signaling responsible for LPS-induced sepsis.
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| Zhang C, Li J, Qiu X, Chen Y, Zhang X.
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| Biomed Pharmacother 112:108620. doi: 10.1016/j.biopha.2019.108620. Epub 2019 Feb 20.
2019
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| 2 | AGTR2, TGFBR2
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| Angiotensin II Type 2 Receptor Decreases Transforming Growth Factor-β Type II Receptor Expression and Function in Human Renal Proximal Tubule Cells.
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| Guo HL, Liao XH, Liu Q, Zhang L.
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| PLoS One 11(2):e0148696. doi: 10.1371/journal.pone.0148696. eCollection 2016.
2016
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| 3 | ACVRL1, ENG, PPP2R2B, TGFBR2
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| Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks.
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| Xu G, Barrios-Rodiles M, Jerkic M, Turinsky AL, Nadon R, Vera S, Voulgaraki D, Wrana JL, Toporsian M, Letarte M.
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| Mol Cell Proteomics 13(2):489-502. doi: 10.1074/mcp.M113.033464. Epub 2013 Dec 7.
2014
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| 4 | ACTA2, LDS1A, LDS1B, TAAD4, TGFBR1, TGFBR2
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| Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
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| Regalado E, Medrek S, Tran-Fadulu V, Guo DC, Pannu H, Golabbakhsh H, Smart S, Chen JH, Shete S, Kim DH, Stern R, Braverman AC, Milewicz DM.
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| Am J Med Genet A 155A(9):2125-30. doi: 10.1002/ajmg.a.34050. Epub 2011 Aug 3.
2011
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| 5 | TGFBR1, TGFBR2, TGFBR3
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| TGF beta (transforming growth factor beta) receptor type III directs clathrin-mediated endocytosis of TGF beta receptor types I and II.
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| McLean S, Di Guglielmo GM.
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| Biochem J 429(1):137-45. doi: 10.1042/BJ20091598.
2010
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| 6 | FBN1, LDS1A, LDS2B, MFS1, TGFBR1, TGFBR2
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| Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
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| Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J.
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| Clin Genet 75(3):265-70. Epub 2009 Jan 20. 2009
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| 7 | TGFBR1, TGFBR2
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| Association of the TGF-beta receptor genes with abdominal aortic aneurysm.
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| Baas AF, Medic J, van 't Slot R, de Kovel CG, Zhernakova A, Geelkerken RH, Kranendonk SE, van Sterkenburg SM, Grobbee DE, Boll AP, Wijmenga C, Blankensteijn JD, Ruigrok YM.
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| Eur J Hum Genet ur J Hum Genet. 2009 Aug 12. [Epub ahead of print]
2009
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| 8 | FBN1, LDS1A, LDS2B, MFS1, MFS2, TGFBR1, TGFBR2
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| Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
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| Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL.
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| Am J Med Genet A 149A(7):1452-9. 2009
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| 9 | TGFBR2
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| The extracellular domain of the TGFbeta type II receptor regulates membrane raft partitioning.
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| Luga V, McLean S, Le Roy C, O'Connor-McCourt M, Wrana JL, Di Guglielmo GM.
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| Biochem J 421(1):119-31.
2009
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| 10 | FTAA4, LDS1B, TGFBR1, TGFBR2
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| Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
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| Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.
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| J Med Genet 46(9):607-13. Epub 2009 Jun 18.PMID: 19542084 2009
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| 11 | KLF14, TGFBR2
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| Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling.
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| Truty MJ, Lomberk G, Fernandez-Zapico ME, Urrutia R.
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| J Biol Chem 284(10):6291-300. Epub 2008 Dec 15.
2009
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| 12 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
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| Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.
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| Hum Mutat 29(11):E284-95. 2008
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| 13 | FBN1, TGFBR1, TGFBR2, ECTL, MFS1, TAA, WMSAD, CCSND1, CCSND2, FRLS
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| Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
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| Mizuguchi T, Matsumoto N.
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| J Hum Genet 52(1):1-12. Epub 2006 Oct 24. Review. 2007
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| 14 | TGFBR2
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| Proliferation and Cdk4 expression in microsatellite unstable colon cancers with TGFBR2 mutations.
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| Grady WM, Willis JE, Trobridge P, Romero-Gallo J, Munoz N, Olechnowicz J, Ferguson K, Gautam S, Markowitz SD.
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| Int J Cancer 118(3):600-8. 2006
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| 15 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| Aneurysm syndromes caused by mutations in the TGF-beta receptor.
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| Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.
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| N Engl J Med 355(8):788-98. 2006
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| 16 | FBN1, MFS1, FBN2, CCA, TGFBR2, MFS2
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| Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
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| 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.
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| Am J Med Genet A 140(16):1719-25. 2006
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| 17 | LDS1A, LDS2B, NIPBL, TGFBR1, TGFBR2
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| Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
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| Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L.
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| Hum Mutat 27(8):731-5. 2006
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| 18 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
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| Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M.
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| Hum Mutat 27(8):770-7. 2006
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| 19 | 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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| 20 | LDS1A, LDS2B, MFS2, TGFBR1, TGFBR2
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| A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
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| Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC.
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| Nat Genet 37(3):275-81. Epub 2005 Jan 30. 2005
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| 21 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| A new Marfan-like syndrome caused by perturbed transforming growth factor-beta signaling.
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| Gibson W.
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| Clin Genet 68(4):330-1. No abstract available. 2005
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| 22 | LDS2B, TGFBR2
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| Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
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| Ki CS, Jin DK, Chang SH, Kim JE, Kim JW, Park BK, Choi JH, Park IS, Yoo HW.
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| Clin Genet 68(6):561-3. No abstract available. 2005
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| 23 | LDS1B, TGFBR2
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| Genetic basis of thoracic aortic aneurysms and aortic dissections.
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| Pannu H, Tran-Fadulu V, Milewicz DM.
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| Am J Med Genet C Semin Med Genet 139(1):10-6. 2005
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| 24 | TGFBR2, MFS2
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| Heterozygous TGFBR2 mutations in Marfan syndrome.
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| Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N.
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| Nat Genet 36(8):855-60. Epub 2004 Jul 04. 2004
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| 25 | TGFBR2, TGFBR3
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| Genomic profiling identifies alterations in TGFbeta signaling through loss of TGFbeta receptor expression in human renal cell carcinogenesis and progression.
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| Copland JA, Luxon BA, Ajani L, Maity T, Campagnaro E, Guo H, LeGrand SN, Tamboli P, Wood CG.
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| Oncogene 22(39):8053-62. 2003
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| 26 | TGFB2, TGFB1, TGFB3, TGFBR1, TGFBR2, TGFBR3
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| Molecular analysis of TGF-(beta)s and their receptors in human keratinocyte cell lines of different biological behaviour.
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| Bachmeier BE, Ruoss I, Hagedorn HG, Nerlich AG.
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| Int J Mol Med 10(4):371-6. 2002
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| 27 | CDKN1B, TGFBR2
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| Transforming growth factor beta receptors and p27kip in thyroid carcinoma.
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| Muro-Cacho CA, et al.
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| Arch Otolaryngol Head Neck Surg 125(1):76-81. 1999
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| 28 | TGFBR2, SMAD2, SMAD3
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| The MH1 domains of smad2 and smad3 are involved in the regulation of the ALK7 signals.
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| Watanabe R, et al.
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| Biochem Biophys Res Commun 254(3):707-12. 1999
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| 29 | TGFBR2
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| Gene mutation of transforming growth factor beta1 type II receptor in hepatocellular carcinoma.
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| Furuta K, et al.
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| Int J Cancer 81(6):851-3. 1999
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| 30 | TGFB2, TGFBR2
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| Two divergent signaling pathways for TGF-beta separated by a mutation of its type II receptor gene.
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| Lu SL, et al.
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| Biochem Biophys Res Commun 259(2):385-90. 1999
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| 31 | TGFBR2, EWSR1, FLI1
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| Repression of the gene encoding the TGF-beta type II receptor is a major target of the EWS-FLI1 oncoprotein.
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| Hahm KB, et al.
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| Nat Genet 23(2):222-7 1999
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| 32 | TGFBR2, HNPCC6
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| HNPCC associated with germline mutation in the TGF-beta type II receptor gene.
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| Lu SL, et al.
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| Nat Genet 19 : 17-18. 1998
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| 33 | TGFBR2, TSG3B
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| Novel mutations in the polyadenine tract of the transforming growth factor beta type II receptor gene are found in a subpopulation of human pancreatic adenocarcinomas.
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| Venkatasubbarao K, et al.
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| Genes Chromosomes Cancer 22 : 138-144. 1998
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| 34 | TGFBR2
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| Analyses of mutation and loss of heterozygosity of coding sequences of the entire transforming growth factor beta type II receptor gene in sporadic human gastric cancer.
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| Guo RJ, et al.
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| Carcinogenesis 19 : 1539-1544. 1998
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| 35 | BAX, IGF2R, TGFBR2
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| The clinicopathological features of gastric carcinomas with microsatellite instability may be mediated by mutations of different target genes : a study of the TGFbeta RII, IGFII R, and BAX genes.
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| Oliveira C, et al.
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| Am J Pathol 153 : 1211-1219. 1998
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| 36 | TGFBR1, TGFBR2
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| Genetic alterations of the transforming growth factor beta receptor genes in pancreatic and biliary adenocarcinomas.
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| Goggins M, et al.
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| Cancer Res 58 : 5329-5332. 1998
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| 37 | TGFBR2
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| Transforming growth factor beta type II receptor gene mutations in adenomas from hereditary nonpolyposis colorectal cancer.
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| Akiyama Y, et al.
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| Gastroenterology 112 : 33-39. 1997
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| 38 | TGFBR2
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| Mutation and downregulation of the transforming growth factor beta type II receptor gene in primary squamous cell carcinomas of the head and neck.
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| Wang D, Song H, Evans JA, Lang JC, Schuller DE, Weghorst CM.
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| Carcinogenesis 18(11):2285-90. 1997
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| 39 | TGFBR2
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| The genomic structure of the gene encoding the human transforming growth factor beta type II receptor (TGF-beta RII).
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| Takenoshita S, et al.
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| Genomics 36 : 341-344. 1996
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| 40 | TGFBR2
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| Molecular cloning of a novel type I receptor serine/threonine kinase for the TGFbeta superfamily from rat brain.
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| Tsuchida K, et al.
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| Mol Cell Neurosci 7 : 467-478. 1996
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| 41 | IGF2R, TGFBR2
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| Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours.
|
| Souza RF, et al.
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| Nat Genet 14 : 255-257. 1996
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| 42 | TSG3B, TGFBR2
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| Genomic structure of the transforming growth factor beta type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers.
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| Lu SL, et al.
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| Cancer Res 56 : 4595-4598. 1996
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| 43 | TGFBR2
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| Missense mutations of the transforming growth factor beta type II receptor in human head and neck squamous carcinoma cells.
|
| Garrigue-Antar L, et al.
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| Cancer Res 55 : 3982-3987. 1995
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| 44 | TSG3B, TGFBR2
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| Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer.
|
| Parsons R, et al.
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| Cancer Res 55 : 5548-5550. 1995
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| 45 | TGFBR2
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| Mutations of the transorming growth factor-beta type II receptor gene and genomic instability in hereditary nonpolyposis colorectal cancer.
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| Lu SL, et al.
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| Biochem Biophys Res Commun 216 : 452-457. 1995
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| 46 | TGFBR2, TSG3B
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| A tranforming growth factor beta receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability.
|
| Myeroff LL, et al.
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| Cancer Res 55 : 5545-5547. 1995
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| 47 | TGFBR2, TSG3B
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| Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability.
|
| Markowitz S, et al.
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| Science 268 : 1336-1338. 1995
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| 48 | TGFBR2
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| Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22.
|
| Mathew S, et al.
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| Genomics 20 : 114-115. 1994
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| 49 | ACVR1B, TGFBR2
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| Genomic structure and cloned cDNAs predict that four variants in the kinase domain of serine/threonine kinase receptors arise by alternative splicing and poly(A) addition.
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| Xu J, Matsuzaki K, McKeehan K, Wang F, Kan M, McKeehan WL.
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| Proc Natl Acad Sci U S A 91(17):7957-61. 1994
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| 50 | TGFBR1, TGFBR2, TGFBR3
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| Receptors for the TGF-beta family.
|
| Massagu J.
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| Cell 69 : 1067-1070. 1992
|