PMC Links for Gene (Select 9496) - PMC

Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, Amaya Martinez Meñaca, Rafael Morales Ruiz, Mauro Lago-Docampo, María Valverde Gomez, Javier Gomez Roman, Ana Belén Enguita Valls, Carmen Perez-Olivares, Diana Valverde, Joan Gil Carbonell, Elvira Garrido-Lestache Rodríguez-Monte, Maria Jesus del Cerro, Pablo Lapunzina, Pilar Escribano-Subias

PLoS One. 2020; 15(4): e0232216. Published online 2020 Apr 29. doi: 10.1371/journal.pone.0232216

PMCID:: PMC7190146

Abstract Article PDF–4.4M

Select item 71704374.

TBX4 variants and pulmonary diseases: getting out of the ‘Box’

Meindina G. Haarman, Wilhelmina S. Kerstjens-Frederikse, Rolf M.F. Berger

Curr Opin Pulm Med. 2020 May; 26(3): 277–284. Published online 2020 Mar 18. doi: 10.1097/MCP.0000000000000678

PMCID:: PMC7170437

Abstract Article PDF–647K

Select item 37175875.

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Wilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, Edward M Leter, J Menno Douwes, Arie Van Dijk, Anton Vonk-Noordegraaf, Krista K Dijk-Bos, Lies H Hoefsloot, Elke S Hoendermis, Johan J P Gille, Birgit Sikkema-Raddatz, Robert M W Hofstra, Rolf M F Berger

J Med Genet. 2013 Aug; 50(8): 500–506. Published online 2013 Apr 16. doi: 10.1136/jmedgenet-2012-101152

PMCID:: PMC3717587

Abstract Article PDF–783K

Select item 33814346.

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot

W. Lu, C. A. Bacino, B.S. Richards, C. Alvarez, J.E. VanderMeer, M. Vella, N. Ahituv, N. Sikka, F.R. Dietz, S.H. Blanton, J.T. Hecht

Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Am J Med Genet A. 2012 Jul; 158A(7): 1620–1627. Published online 2012 Jun 7. doi: 10.1002/ajmg.a.35418

PMCID:: PMC3381434

Abstract Article PDF–1.3M

Select item 31791447.

Low Expression of TBX4 Predicts Poor Prognosis in Patients with Stage II Pancreatic Ductal Adenocarcinoma

Meijuan Zong, Meng Meng, Liang Li

Int J Mol Sci. 2011; 12(8): 4953–4963. Published online 2011 Aug 3. doi: 10.3390/ijms12084953

PMCID:: PMC3179144

Abstract Article PDF–462K

Select item 96901018.

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

Anna Monica Bianco, Giulia Ragusa, Valentina Di Carlo, Flavio Faletra, Mariateresa Di Stazio, Costantina Racano, Giovanni Trisolino, Stefania Cappellani, Maurizio De Pellegrin, Ignazio d’Addetta, Giuseppe Carluccio, Sergio Monforte, Antonio Andreacchio, Daniela Dibello, Adamo P. d’Adamo

Genes (Basel) 2022 Nov; 13(11): 1958. Published online 2022 Oct 27. doi: 10.3390/genes13111958

PMCID:: PMC9690101

Abstract Article PDF–246K

Select item 69047949.

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

Ariana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, Homa Tajsharghi, Ali-Reza Moslemi, Thomas Naert, Hong Thi Tran, Fatemeh Ahangari, Minoo Rajaei, Mojila Nasseri, Thomas Haaf, Afrooz Azad, Andrea Superti-Furga, Reza Maroofian, Siavash Ghaderi-Sohi, Hossein Najmabadi, Mohammad Reza Abbaszadegan, Kris Vleminckx, Pooneh Nikuei, Bruno Reversade

Am J Hum Genet. 2019 Dec 5; 105(6): 1294–1301. Published online 2019 Nov 21. doi: 10.1016/j.ajhg.2019.10.013

PMCID:: PMC6904794

Abstract Article PDF–1.4M

Select item 636944610.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford, Jennifer N. Dines, Katie Golden-Grant, Katrina Dipple, Amanda S. Freed, Kathleen A. Leppig, Megan Dishop, David Mowat, Bruce Bennetts, Andrew J. Gifford, Martin A. Weber, Anna F. Lee, Cornelius F. Boerkoel, Tina M. Bartell, Catherine Ward-Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jelena Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaelle André, Eric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A. Scott, Chester W. Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K. Grange, John A. Phillips, 3rd, Jean P. Pfotenhauer, Shalini N. Jhangiani, Claudia G. Gonzaga-Jauregui, Wendy K. Chung, Galen M. Schauer, Mark H. Lipson, Catherine L. Mercer, Arie van Haeringen, Qian Liu, Edwina Popek, Zeynep H. Coban Akdemir, James R. Lupski, Przemyslaw Szafranski, Bertrand Isidor, Cedric Le Caignec, Paweł Stankiewicz

Am J Hum Genet. 2019 Feb 7; 104(2): 213–228. Published online 2019 Jan 10. doi: 10.1016/j.ajhg.2018.12.010

PMCID:: PMC6369446

Abstract Article PDF–3.5M

Select item 617392811.

Genome-wide association study identifies loci and candidate genes for non-idiopathic pulmonary hypertension in Eastern Chinese Han population

Caiyong Yin, Kai Li, Yanfang Yu, Huijie Huang, Youjia Yu, Zhongqun Wang, Jinchuan Yan, Yan Pu, Zheng Li, Ding Li, Peng Chen, Feng Chen

BMC Pulm Med. 2018; 18: 158. Published online 2018 Oct 5. doi: 10.1186/s12890-018-0719-0

PMCID:: PMC6173928

Abstract Article PDF–937K

Select item 118208712.

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Ernie M. H. F. Bongers, Pascal H. G. Duijf, Sylvia E. M. van Beersum, Jeroen Schoots, Albert van Kampen, Andreas Burckhardt, Ben C. J. Hamel, František Lošan, Lies H. Hoefsloot, Helger G. Yntema, Nine V. A. M. Knoers, Hans van Bokhoven

Am J Hum Genet. 2004 Jun; 74(6): 1239–1248. Published online 2004 Apr 21. doi: 10.1086/421331

PMCID:: PMC1182087

Abstract Article PDF–714K

Select item 768855213.

Rare and de novo duplications containing SHOX in clubfoot

Brooke Sadler, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett

J Med Genet. 2020 Dec; 57(12): 851–857. Published online 2020 Jun 9. doi: 10.1136/jmedgenet-2020-106842

PMCID:: PMC7688552

Abstract Article PDF–635K

Select item 760204814.

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients

Lieke M. van den Heuvel, Samara M. A. Jansen, Suzanne I. M. Alsters, Marco C. Post, Jasper J. van der Smagt, Frances S. Handoko-De Man, J. Peter van Tintelen, Hans Gille, Imke Christiaans, Anton Vonk Noordegraaf, HarmJan Bogaard, Arjan C. Houweling

Genes (Basel) 2020 Oct; 11(10): 1191. Published online 2020 Oct 13. doi: 10.3390/genes11101191

PMCID:: PMC7602048

Abstract Article PDF–706K

Select item 496632715.

Transcription factor TBX4 regulates myofibroblast accumulation and lung fibrosis

Ting Xie, Jiurong Liang, Ningshan Liu, Caijuan Huan, Yanli Zhang, Weijia Liu, Maya Kumar, Rui Xiao, Jeanine D’Armiento, Daniel Metzger, Pierre Chambon, Virginia E. Papaioannou, Barry R. Stripp, Dianhua Jiang, Paul W. Noble

J Clin Invest. 2016 Aug 1; 126(8): 3063–3079. Published online 2016 Jul 11. doi: 10.1172/JCI85328

Correction in:: J Clin Invest. 2016 Sep 1; 126(9): 3626.

PMCID:: PMC4966327

Abstract Article PDF–4.4M

Select item 120749816.

Evolution of Mouse T-Box Genes by Tandem Duplication and Cluster Dispersion

S. I. Agulnik, N. Garvey, S. Hancock, I. Ruvinsky, D. L. Chapman, I. Agulnik, R. Bollag, V. Papaioannou, L. M. Silver

Genetics. 1996 Sep; 144(1): 249–254. doi: 10.1093/genetics/144.1.249

PMCID:: PMC1207498

Summary PDF–649K

Select item 406652317.

Probing nuclear pore complex architecture with proximity-dependent biotinylation

Dae In Kim, Birendra KC, Wenhong Zhu, Khatereh Motamedchaboki, Valérie Doye, Kyle J. Roux

Proc Natl Acad Sci U S A. 2014 Jun 17; 111(24): E2453–E2461. Published online 2014 Jun 3. doi: 10.1073/pnas.1406459111

PMCID:: PMC4066523

Abstract Article PDF–1.6M

Select item 289479018.

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

Jianhua Zhao, Mingyao Li, Jonathan P Bradfield, Haitao Zhang, Frank D Mentch, Kai Wang, Patrick M Sleiman, Cecilia E Kim, Joseph T Glessner, Cuiping Hou, Brendan J Keating, Kelly A Thomas, Maria L Garris, Sandra Deliard, Edward C Frackelton, F George Otieno, Rosetta M Chiavacci, Robert I Berkowitz, Hakon Hakonarson, Struan FA Grant

BMC Med Genet. 2010; 11: 96. Published online 2010 Jun 14. doi: 10.1186/1471-2350-11-96

PMCID:: PMC2894790

Abstract Article PDF–803K

Select item 464965819.

Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint

Melanie L. Bailey, Tejomayee Singh, Patricia Mero, Jason Moffat, Philip Hieter

Genetics. 2015 Nov; 201(3): 885–895. Published online 2015 Sep 8. doi: 10.1534/genetics.115.180653

PMCID:: PMC4649658

Abstract Article PDF–1.8M

Select item 435137920.

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci

Meian He, Min Xu, Ben Zhang, Jun Liang, Peng Chen, Jong-Young Lee, Todd A. Johnson, Huaixing Li, Xiaobo Yang, Juncheng Dai, Liming Liang, Lixuan Gui, Qibin Qi, Jinyan Huang, Yanping Li, Linda S. Adair, Tin Aung, Qiuyin Cai, Ching-Yu Cheng, Myeong-Chan Cho, Yoon Shin Cho, Minjie Chu, Bin Cui, Yu-Tang Gao, Min Jin Go, Dongfeng Gu, Weiqiong Gu, Huan Guo, Yongchen Hao, Jie Hong, Zhibin Hu, Yanling Hu, Jianfeng Huang, Joo-Yeon Hwang, Mohammad Kamran Ikram, Guangfu Jin, Dae-Hee Kang, Chiea Chuen Khor, Bong-Jo Kim, Hung Tae Kim, Michiaki Kubo, Jeannette Lee, Juyoung Lee, Nanette R. Lee, Ruoying Li, Jun Li, JianJun Liu, Jirong Longe, Wei Lu, Xiangfeng Lu, Xiaoping Miao, Yukinori Okada, Rick Twee-Hee Ong, Gaokun Qiu, Mark Seielstad, Xueling Sim, Huaidong Song, Fumihiko Takeuchi, Toshihiro Tanaka, Phil R. Taylor, Laiyuan Wang, Weiqing Wang, Yiqin Wang, Chen Wu, Ying Wu, Yong-Bing Xiang, Ken Yamamoto, Handong Yang, Ming Liao, Mitsuhiro Yokota, Terri Young, Xiaomin Zhang, Norihiro Kato, Qing K. Wang, Wei Zheng, Frank B. Hu, Dongxin Lin, Hongbing Shen, Yik Ying Teo, Zengnan Mo, Tien Yin Wong, Xu Lin, Karen L. Mohlke, Guang Ning, Tatsuhiko Tsunoda, Bok-Ghee Han, Xiao-Ou Shu, E. Shyong Tai, Tangchun Wu, Lu Qi

Hum Mol Genet. 2015 Mar 15; 24(6): 1791–1800. Published online 2014 Nov 26. doi: 10.1093/hmg/ddu583

PMCID:: PMC4351379

Abstract Article PDF–436K

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