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Items: 1 to 20 of 27

1.
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
AbstractArticlePDF–246K
2.
Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome
Ping Li, Wenli Lan, Jiaying Li, Yanping Zhang, Qiuhong Xiong, Jinpei Ye, Changxin Wu, Han Xiao
Int J Mol Sci. 2022 Feb; 23(4): 2075. Published online 2022 Feb 14. doi: 10.3390/ijms23042075
PMCID:
PMC8875086
AbstractArticlePDF–2.0M
3.
SLFN11 promotes CDT1 degradation by CUL4 in response to replicative DNA damage, while its absence leads to synthetic lethality with ATR/CHK1 inhibitors
Ukhyun Jo, Yasuhisa Murai, Sirisha Chakka, Lu Chen, Ken Cheng, Junko Murai, Liton Kumar Saha, Lisa M. Miller Jenkins, Yves Pommier
Proc Natl Acad Sci U S A. 2021 Feb 9; 118(6): e2015654118. Published online 2021 Feb 3. doi: 10.1073/pnas.2015654118
PMCID:
PMC8017720
AbstractArticlePDF–1.9M
4.
Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq
Justyna A. Karolak, Tomasz Gambin, Przemyslaw Szafranski, Paweł Stankiewicz
Respir Res. 2021; 22: 26. Published online 2021 Jan 21. doi: 10.1186/s12931-021-01617-y
PMCID:
PMC7818749
AbstractArticlePDF–4.7M
5.
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
AbstractArticlePDF–635K
6.
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
AbstractArticlePDF–706K
7.
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
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
AbstractArticlePDF–4.4M
8.
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
AbstractArticlePDF–647K
9.
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
AbstractArticlePDF–1.4M
10.
TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile
Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert
Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116
Correction in:
Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.
PMCID:
PMC6600915
AbstractArticlePDF–1.7M
11.
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
AbstractArticlePDF–3.5M
12.
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
AbstractArticlePDF–937K
13.
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
AbstractArticlePDF–4.4M
14.
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
AbstractArticlePDF–1.8M
15.
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
AbstractArticlePDF–436K
16.
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
AbstractArticlePDF–1.6M
17.
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
AbstractArticlePDF–783K
18.
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
AbstractArticlePDF–1.3M
19.
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
AbstractArticlePDF–462K
20.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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