| Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children. | Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.
Neves da Silva HV, Weinman JP, Englund EK, Deterding RR, Ivy DD, Browne LP. | 02/8/2024 |
| Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype. | Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.
Doughty ES, Norvik C, Levin A, Bodmer J, Tran-Lundmark K, Abman SH, Galambos C. | 01/26/2024 |
| What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study. | What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.
Bianco AM, Ragusa G, Di Carlo V, Faletra F, Di Stazio M, Racano C, Trisolino G, Cappellani S, De Pellegrin M, d'Addetta I, Carluccio G, Monforte S, Andreacchio A, Dibello D, d'Adamo AP., Free PMC Article | 11/19/2022 |
| Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome. | Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.
Li P, Lan W, Li J, Zhang Y, Xiong Q, Ye J, Wu C, Xiao H., Free PMC Article | 03/19/2022 |
| Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients. | Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel LM, Jansen SMA, Alsters SIM, Post MC, van der Smagt JJ, Handoko-De Man FS, van Tintelen JP, Gille H, Christiaans I, Vonk Noordegraaf A, Bogaard H, Houweling AC., Free PMC Article | 07/17/2021 |
| Rare and de novo duplications containing SHOX in clubfoot. | Rare and de novo duplications containing SHOX in clubfoot.
Sadler B, Haller G, Antunes L, Nikolov M, Amarillo I, Coe B, Dobbs MB, Gurnett CA., Free PMC Article | 07/10/2021 |
| TBX4 variants and pulmonary diseases: getting out of the 'Box'. | TBX4 variants and pulmonary diseases: getting out of the 'Box'.
Haarman MG, Kerstjens-Frederikse WS, Berger RMF., Free PMC Article | 04/17/2021 |
| Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation. | Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
Thoré P, Girerd B, Jaïs X, Savale L, Ghigna MR, Eyries M, Levy M, Ovaert C, Servettaz A, Guillaumot A, Dauphin C, Chabanne C, Boiffard E, Cottin V, Perros F, Simonneau G, Sitbon O, Soubrier F, Bonnet D, Remy-Jardin M, Chaouat A, Humbert M, Montani D. | 02/20/2021 |
| Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq. | Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.
Karolak JA, Gambin T, Szafranski P, Stankiewicz P., Free PMC Article | 02/2/2021 |
| Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases. | Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.
Eyries M, Montani D, Nadaud S, Girerd B, Levy M, Bourdin A, Trésorier R, Chaouat A, Cottin V, Sanfiorenzo C, Prevot G, Reynaud-Gaubert M, Dromer C, Houeijeh A, Nguyen K, Coulet F, Bonnet D, Humbert M, Soubrier F. | 10/10/2020 |
| Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. | Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
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. | 10/3/2020 |
| We present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4. Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. | Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.
Hernandez-Gonzalez I, Tenorio J, Palomino-Doza J, Martinez Meñaca A, Morales Ruiz R, Lago-Docampo M, Valverde Gomez M, Gomez Roman J, Enguita Valls AB, Perez-Olivares C, Valverde D, Gil Carbonell J, Garrido-Lestache Rodríguez-Monte E, Del Cerro MJ, Lapunzina P, Escribano-Subias P., Free PMC Article | 08/1/2020 |
| Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. | Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
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., Free PMC Article | 04/4/2020 |
| Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway | Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
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., Free PMC Article | 11/23/2019 |
| In seven families we foundTBX4anomalies predictedto cause loss-of-function or haploinsufficiency, confirming the clinicaldiagnosis of Small patella syndrome | Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, Unger S, Wright M, Isidor B, Ghoumid J, Petit F, Boutry N, Escande F, Manouvrier-Hanu S. | 04/27/2019 |
| The results suggested that rs6557421 variant in Nox3 and rs3744439 variant in Tbx4 might have potential effect on individual susceptibility to pulmonary hypertension. | Genome-wide association study identifies loci and candidate genes for non-idiopathic pulmonary hypertension in Eastern Chinese Han population.
Yin C, Li K, Yu Y, Huang H, Yu Y, Wang Z, Yan J, Pu Y, Li Z, Li D, Chen P, Chen F., Free PMC Article | 01/26/2019 |
| highlights the importance of T-box transcription factors, especially TBX4, and super-enhancers in the roles of lung fibroblasts in pulmonary physiology and pathogenesis | TBX4 is involved in the super-enhancer-driven transcriptional programs underlying features specific to lung fibroblasts.
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. | 01/12/2019 |
| We propose phenotypic expansion of the TBX4-related clinical disease spectrum to include acinar dysplasia of the lungs. The reported mutation is the first identified genetic variant causative for acinar dysplasia. | Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. | 10/21/2017 |
| TBX4 is a mesenchymal transcription factor that drives accumulation of myofibroblasts and the development of lung fibrosis | Transcription factor TBX4 regulates myofibroblast accumulation and lung fibrosis.
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., Free PMC Article | 09/30/2017 |
| In a cohort with idiopathic or hereditary pulmonary arterial hypertension, a possibly associated mutation was found in 11.10% of the idiopathic cases (n = 16) and in 68.18% of the hereditary cases. There were 4 mutations found in TBX4. | Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.
Navas P, Tenorio J, Quezada CA, Barrios E, Gordo G, Arias P, López Meseguer M, Santos-Lozano A, Palomino Doza J, Lapunzina P, Escribano Subías P. | 04/8/2017 |
| a low level of TBX4 expression suggests a worse prognosis for patients with stage II PDAC. Down-regulation of the TBX4 gene in pancreas is less likely to be regulated by DNA methylation. | Low expression of TBX4 predicts poor prognosis in patients with stage II pancreatic ductal adenocarcinoma.
Zong M, Meng M, Li L., Free PMC Article | 01/31/2015 |
| Although TBX4 remains the candidate gene for congenital clubfoot involving 17q23.1-q23.2 duplications, the explanation for variable expressivity and penetrance remains unknown. | Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA. | 09/13/2014 |
| data indicate that TBX4 mutations are associated with childhood-onset pulmonary arterial hypertension (PAH), but the prevalence of PAH in adult TBX4 mutation carriers is low | TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
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., Free PMC Article | 02/22/2014 |
| Minimal evidence was found for an association between TBX4 and clubfoot and no pathogenic sequence variants were identified in the two known TBX4 hindlimb enhancer elements. | Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT., Free PMC Article | 11/17/2012 |
| Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension. | Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, Shchelochkov OA. | 05/21/2011 |