| 1 | PAPPAS, TBX4
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| A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.
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| Ranganath P, Perala S, Nair L, Pamu PK, Shankar A, Murugan S, Dalal A.
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| Eur J Hum Genet ur J Hum Genet. 2020 Jan 21. doi: 10.1038/s41431-020-0572-5. [Epub ahead of print]
2020
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| 2 | TBX4
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| Molecular genetic framework underlying pulmonary arterial hypertension.
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| Southgate L, Machado RD, Gräf S, Morrell NW.
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| Nat Rev Cardiol 17(2):85-95. doi: 10.1038/s41569-019-0242-x. Epub 2019 Aug 12. Review.
2020
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| 3 | FGF10, FGFR2, TBX4
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| Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
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| Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.
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| Am J Hum Genet 104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.
2019
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| 4 | FGF10, PAPPAS, PTLAH, RSPO2, TBX4
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| Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
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| Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B.
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| Am J Hum Genet 105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21.
2019
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| 5 | CTNNB1, TBX4
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| Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
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| Karolak JA, Szafranski P, Kilner D, Patel C, Scurry B, Kinning E, Chandler K, Jhangiani SN, Coban Akdemir ZH, Lupski JR, Popek E, Stankiewicz P.
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| Clin Genet 96(4):366-370. doi: 10.1111/cge.13605. Epub 2019 Jul 22.
2019
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| 6 | TBX4
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| Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
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| Galambos C, Mullen MP, Shieh JT, Schwerk N, Kielt MJ, Ullmann N, Boldrini R, Stucin-Gantar I, Haass C, Bansal M, Agrawal PB, Johnson J, Peca D, Surace C, Cutrera R, Pauciulo MW, Nichols WC, Griese M, Ivy D, Abman SH, Austin ED, Danhaive O.
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| Eur Respir J 54(2). pii: 1801965. doi: 10.1183/13993003.01965-2018. Print 2019 Aug.
2019
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| 7 | TBX4
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| TBX4 is involved in the super-enhancer-driven transcriptional programs underlying features specific to lung fibroblasts.
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| Horie M, Miyashita N, Mikami Y, Noguchi S, Yamauchi Y, Suzukawa M, Fukami T, Ohta K, Asano Y, Sato S, Yamaguchi Y, Ohshima M, Suzuki HI, Saito A, Nagase T.
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| Am J Physiol Lung Cell Mol Physiol 314(1):L177-L191. doi: 10.1152/ajplung.00193.2017. Epub 2017 Sep 28.
2018
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| 8 | EOMES, T, TBX1, TBX15, TBX18, TBX2, TBX3, TBX4, TBX5
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| The Roles of T-Box Genes in Vertebrate Limb Development.
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| Sheeba CJ, Logan MP.
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| Curr Top Dev Biol 122:355-381. doi: 10.1016/bs.ctdb.2016.08.009. Epub 2016 Oct 5.
2017
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| 9 | TBX4
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| Transcription factor TBX4 regulates myofibroblast accumulation and lung fibrosis.
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| Xie T, Liang J, Liu N, Huan C, Zhang Y, Liu W, Kumar M, Xiao R, D'Armiento J, Metzger D, Chambon P, Papaioannou VE, Stripp BR, Jiang D, Noble PW.
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| J Clin Invest 126(8):3063-79. doi: 10.1172/JCI85328. Epub 2016 Jul 11. Erratum in: J Clin Invest. 2016 Sep 1;126(9):3626.
2016
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| 10 | TBX4, TBX5
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| A combination of activation and repression by a colinear Hox code controls forelimb-restricted expression of Tbx5 and reveals Hox protein specificity.
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| Nishimoto S, Minguillon C, Wood S, Logan MP.
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| PLoS Genet 10(3):e1004245. doi: 10.1371/journal.pgen.1004245. eCollection 2014 Mar.
2014
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| 11 | SHOX2, TBX4
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| Tbx4 interacts with the short stature homeobox gene Shox2 in limb development.
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| Glaser A, Arora R, Hoffmann S, Li L, Gretz N, Papaioannou VE, Rappold GA.
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| Dev Dyn 243(5):629-39. doi: 10.1002/dvdy.24104. Epub 2014 Jan 28.
2014
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| 12 | TBX4
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| Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
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| Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA.
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| Am J Med Genet A 164A(2):364-9. doi: 10.1002/ajmg.a.36238.
2014
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| 13 | TBX4
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| Spatial-temporal targeting of lung-specific mesenchyme by a Tbx4 enhancer.
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| Zhang W, Menke DB, Jiang M, Chen H, Warburton D, Turcatel G, Lu CH, Xu W, Luo Y, Shi W.
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| BMC Biol 11:111. doi: 10.1186/1741-7007-11-111.
2013
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| 14 | TBX4
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| TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
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| Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM.
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| J Med Genet 50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16.
2013
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| 15 | DEL17Q23, TBX4
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| Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot.
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| Lu W, Bacino CA, Richards BS, Alvarez C, Vandermeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT.
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| Am J Med Genet A 158A(7):1620-7. doi: 10.1002/ajmg.a.35418. Epub 2012 Jun 7.
2012
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| 16 | FGF10, TBX4, TBX5
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| Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system.
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| Arora R, Metzger RJ, Papaioannou VE.
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| PLoS Genet 8(8):e1002866. doi: 10.1371/journal.pgen.1002866. Epub 2012 Aug 2.
2012
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| 17 | TBX4, TBX5
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| Hox genes regulate the onset of Tbx5 expression in the forelimb.
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| Minguillon C, Nishimoto S, Wood S, Vendrell E, Gibson-Brown JJ, Logan MP.
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| Development 139(17):3180-8. doi: 10.1242/dev.084814.
2012
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| 18 | DEL17Q23, TBX2, TBX4
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| Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
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| Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, Shchelochkov OA.
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| Am J Med Genet A 155(2):418-23. doi: 10.1002/ajmg.a.33827. Epub 2011 Jan 13.PMID: 21271665 2011
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| 19 | DEL17Q23, TBX2, TBX4
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| Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
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| Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z.
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| Am J Med Genet A 155(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3.
2011
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| 20 | ELAVL1, FGF10, TBX4
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| HuR controls lung branching morphogenesis and mesenchymal FGF networks.
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| Sgantzis N, Yiakouvaki A, Remboutsika E, Kontoyiannis DL.
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| Dev Biol 354(2):267-79. doi: 10.1016/j.ydbio.2011.04.003. Epub 2011 Apr 16.
2011
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| 21 | DEL17Q23, TBX2, TBX4
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| Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
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| Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.
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| Am J Hum Genet 86(3):454-61. Epub 2010 Mar 4.PMID: 20206336 2010
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| 22 | DEL17q23, DUP17QO, TBX4
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| Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
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| Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA.
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| Am J Hum Genet 87(1):154-60.PMID: 20598276 2010
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| 23 | TBX4, TBX5
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| Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning.
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| Hasson P, DeLaurier A, Bennett M, Grigorieva E, Naiche LA, Papaioannou VE, Mohun TJ, Logan MP.
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| Dev Cell 18(1):148-56. doi: 10.1016/j.devcel.2009.11.013.
2010
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| 24 | TBX4
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| Dual hindlimb control elements in the Tbx4 gene and region-specific control of bone size in vertebrate limbs.
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| Menke DB, Guenther C, Kingsley DM.
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| Development 135(15):2543-53. doi: 10.1242/dev.017384. Epub 2008 Jun 25.
2008
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| 25 | PITX1, TBX4, TBX5
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| Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth.
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| Minguillon C, Del Buono J, Logan MP.
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| Dev Cell 8(1):75-84. 2005
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| 26 | PTLAH, TBX4
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| Mutations in the Human TBX4 Gene Cause Small Patella Syndrome.
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| Bongers EM, Duijf PH, Van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, Van Bokhoven H.
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| Am J Hum Genet 74(6):1239-48. Epub 2004 Apr 21. 2004
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| 27 | TBX1,TBX3, TBX4, TBX5
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| T-box genes and congenital heart/limb malformations.
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| Isphording D, Leylek AM, Yeung J, Mischel A, Simon HG.
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| Clin Genet 66(4):253-64. 2004
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| 28 | TBX4
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| Virtual cloning and physical mapping of a human T-box gene, TBX4.
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| Yi CH, Russ A, Brook JD.
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| Genomics 67(1):92-5. 2000
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| 29 | PITX1, TBX4
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| Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity.
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| Logan M, Tabin CJ.
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| Science 283(5408):1736-9. 1999
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