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Select item 101721881.

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli

Eur J Hum Genet. 2023 May; 31(5): 596–601. Published online 2023 Jan 4. doi: 10.1038/s41431-022-01279-4

PMCID:: PMC10172188

Abstract Article PDF–5.0M

Select item 89452112.

Role of TGF-Beta Signaling in Beta Cell Proliferation and Function in Diabetes

Hong-Lian Wang, Li Wang, Chang-Ying Zhao, Hui-Yao Lan

Biomolecules. 2022 Mar; 12(3): 373. Published online 2022 Feb 26. doi: 10.3390/biom12030373

PMCID:: PMC8945211

Abstract Article PDF–1.2M

Select item 86816993.

hiPSC modeling of lineage-specific smooth muscle cell defects caused by TGFBR1^A230T variant, and its therapeutic implications for Loeys-Dietz Syndrome

Dong Zhou, Hao Feng, Ying Yang, Tingting Huang, Ping Qiu, Chengxin Zhang, Timothy R. Olsen, Jifeng Zhang, Y. Eugene Chen, Dogukan Mizrak, Bo Yang

Circulation. Author manuscript; available in PMC 2022 Oct 5.

Published in final edited form as: Circulation. 2021 Oct 5; 144(14): 1145–1159. Published online 2021 Aug 4. doi: 10.1161/CIRCULATIONAHA.121.054744

PMCID:: PMC8681699

Abstract Article PDF–3.6M

Select item 83250994.

Identification of novel biomarkers for arthrofibrosis after total knee arthroplasty in animal models and clinical patients

Xi Chen, Zhaolun Wang, Yong Huang, Wang Deng, Yixin Zhou, Ming Chu

EBioMedicine. 2021 Aug; 70: 103486. Published online 2021 Jul 23. doi: 10.1016/j.ebiom.2021.103486

Correction in:: EBioMedicine. 2021 Sep; 71: 103543.

PMCID:: PMC8325099

Abstract Article PDF–5.2M

Select item 82417685.

The Molecular Genetics of Marfan Syndrome

Qiu Du, Dingding Zhang, Yue Zhuang, Qiongrong Xia, Taishen Wen, Haiping Jia

Int J Med Sci. 2021; 18(13): 2752–2766. Published online 2021 May 27. doi: 10.7150/ijms.60685

PMCID:: PMC8241768

Abstract Article PDF–978K

Select item 78975676.

Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases　― Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma ―

Takayuki Fujiwara, Norifumi Takeda, Satoshi Ishii, Hiroyuki Morita, Issei Komuro

Circ Rep. 2019 Nov 8; 1(11): 487–492. Published online 2019 Nov 2. doi: 10.1253/circrep.CR-19-0098

PMCID:: PMC7897567

Abstract Article PDF–1.7M

Select item 78955157.

Role and clinical significance of TGF-β1 and TGF-βR1 in malignant tumors (Review)

Junmin Wang, Hongjiao Xiang, Yifei Lu, Tao Wu

Int J Mol Med. 2021 Apr; 47(4): 55. Published online 2021 Feb 15. doi: 10.3892/ijmm.2021.4888

PMCID:: PMC7895515

Abstract Article PDF–519K

Select item 78883838.

Fluid shear stress generates a unique signaling response by activating multiple TGFβ family type I receptors in osteocytes

David A. Monteiro, Neha S. Dole, J. Luke Campos, Serra Kaya, Charles A. Schurman, Cassandra D. Belair, Tamara Alliston

FASEB J. 2021 Mar; 35(3): e21263. Published online 2021 Feb 11. doi: 10.1096/fj.202001998R

PMCID:: PMC7888383

Abstract Article PDF–1.0M

Select item 78429619.

Evaluating Deep Learning models for predicting ALK-5 inhibition

Gabriel Z. Espinoza, Rafaela M. Angelo, Patricia R. Oliveira, Kathia M. Honorio

PLoS One. 2021; 16(1): e0246126. Published online 2021 Jan 28. doi: 10.1371/journal.pone.0246126

PMCID:: PMC7842961

Abstract Article PDF–2.2M

Select item 776056810.

Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9

David Goudie

Genes (Basel) 2020 Dec; 11(12): 1410. Published online 2020 Nov 26. doi: 10.3390/genes11121410

PMCID:: PMC7760568

Abstract Article PDF–1.9M

Select item 654484011.

Transforming growth factor–β (TGF-β)–induced up-regulation of TGF-β receptors at the cell surface amplifies the TGF-β response

Dana Duan, Rik Derynck

J Biol Chem. 2019 May 24; 294(21): 8490–8504. Published online 2019 Apr 4. doi: 10.1074/jbc.RA118.005763

PMCID:: PMC6544840

Abstract Article PDF–3.0M

Select item 613916312.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo

BMC Med Genet. 2018; 19: 170. Published online 2018 Sep 15. doi: 10.1186/s12881-018-0661-2

PMCID:: PMC6139163

Abstract Article PDF–1.5M

Select item 605798113.

Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma

Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara, Ryo Inuzuka, Hiroki Yagi, Sonoko Maemura, Haruhiro Toko, Mutsuo Harada, Yuichi Ikeda, Hidetoshi Kumagai, Seitaro Nomura, Eiki Takimoto, Hiroshi Akazawa, Junya Ako, Issei Komuro

Eur J Hum Genet. 2018 Aug; 26(8): 1151–1158. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0127-1

PMCID:: PMC6057981

Abstract Article PDF–1.4M

Select item 481673614.

Transient Suppression of TGFβ Receptor Signaling Facilitates Human Islet Transplantation

Xiangwei Xiao, Shane Fischbach, Zewen Song, Iljana Gaffar, Ray Zimmerman, John Wiersch, Krishna Prasadan, Chiyo Shiota, Ping Guo, Sabarinathan Ramachandran, Piotr Witkowski, George K. Gittes

Endocrinology. 2016 Apr; 157(4): 1348–1356. Published online 2016 Feb 12. doi: 10.1210/en.2015-1986

PMCID:: PMC4816736

Abstract Article

Select item 466493615.

MiR-181b regulates cisplatin chemosensitivity and metastasis by targeting TGFβR1/Smad signaling pathway in NSCLC

Xiaoyuan Wang, Xuesong Chen, Qingwei Meng, Hu Jing, Hailing Lu, Yanmei Yang, Li Cai, Yanbin Zhao

Sci Rep. 2015; 5: 17618. Published online 2015 Dec 1. doi: 10.1038/srep17618

Correction in:: Sci Rep. 2022; 12: 21706.

PMCID:: PMC4664936

Abstract Article PDF–2.6M

Select item 460994316.

Identification of TGF-β receptor-1 as a key regulator of carbon nanotube-induced fibrogenesis

Anurag Mishra, Todd A. Stueckle, Robert R. Mercer, Raymond Derk, Yon Rojanasakul, Vincent Castranova, Liying Wang

Am J Physiol Lung Cell Mol Physiol. 2015 Oct 15; 309(8): L821–L833. Published online 2015 Aug 21. doi: 10.1152/ajplung.00002.2015

PMCID:: PMC4609943

Abstract Article

Select item 449641617.

TGFβ Receptor 1: An Immune Susceptibility Gene in HPV-Associated Cancer

Chaya Levovitz, Dan Chen, Emma Ivansson, Ulf Gyllensten, John P. Finnigan, Sara Alshawish, Weijia Zhang, Eric E. Schadt, Marshal R. Posner, Eric M. Genden, Paolo Boffetta, Andrew G. Sikora

Cancer Res. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Cancer Res. 2014 Dec 1; 74(23): 6833–6844. Published online 2014 Oct 1. doi: 10.1158/0008-5472.CAN-14-0602-T

PMCID:: PMC4496416

Abstract Article PDF–1.2M

Select item 446689318.

Association between Int7G24A rs334354 polymorphism and cancer risk: a meta-analysis of case-control studies

Weixiang Wu, Yeqing Tong, Xiaoyun Wei, Qiang Zhao, Xiaoqi Pan, Guangxia Yu, Qing Lu

Sci Rep. 2015; 5: 11350. Published online 2015 Jun 15. doi: 10.1038/srep11350

PMCID:: PMC4466893

Abstract Article PDF–2.1M

Select item 436252819.

The human splicing code reveals new insights into the genetic determinants of disease

Hui Y. Xiong, Babak Alipanahi, Leo J. Lee, Hannes Bretschneider, Daniele Merico, Ryan K.C. Yuen, Yimin Hua, Serge Gueroussov, Hamed S. Najafabadi, Timothy R. Hughes, Quaid Morris, Yoseph Barash, Adrian R. Krainer, Nebojsa Jojic, Stephen W. Scherer, Benjamin J. Blencowe, Brendan J. Frey

Science. Author manuscript; available in PMC 2016 Jan 9.

Published in final edited form as: Science. 2015 Jan 9; 347(6218): 1254806. Published online 2014 Dec 18. doi: 10.1126/science.1254806

PMCID:: PMC4362528

Abstract Article PDF–1.4M

Select item 411267520.

TGFBR1 and Cancer Susceptibility

Boris Pasche, Michael J. Pennison, Hugo Jimenez, Minghui Wang

Trans Am Clin Climatol Assoc. 2014; 125: 300–312.

PMCID:: PMC4112675

Abstract Article PDF–70K

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