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Select item 112027861.

Presentation of Rare Phenotypes Associated with the FKBP10 Gene

Elena S. Merkuryeva, Tatiana V. Markova, Vladimir M. Kenis, Olga E. Agranovich, Ivan M. Dan, Yulia Y. Kotalevskaya, Olga A. Shchagina, Oxana P. Ryzhkova, Sergei S. Fomenko, Elena L. Dadali, Sergey I. Kutsev

Genes (Basel) 2024 Jun; 15(6): 674. Published online 2024 May 23. doi: 10.3390/genes15060674

PMCID:: PMC11202786

Abstract Article PDF–2.7M

Select item 100940842.

Clinical features and molecular characterization of Chinese patients with FKBP10 variants

Zhijia Tan, Hiu Tung Shek, Peikai Chen, Zhongxin Dong, Yapeng Zhou, Shijie Yin, Anmei Qiu, Lina Dong, Bo Gao, Michael Kai Tsun To

Mol Genet Genomic Med. 2023 Apr; 11(4): e2122. Published online 2023 Jan 19. doi: 10.1002/mgg3.2122

PMCID:: PMC10094084

Abstract Article PDF–14M

Select item 90693843.

circREEP3 Drives Colorectal Cancer Progression via Activation of FKBP10 Transcription and Restriction of Antitumor Immunity

Zhenzhen Chen, Luyun He, Liangbo Zhao, Guangtan Zhang, Zhiwei Wang, Pingping Zhu, Benyu Liu

Adv Sci (Weinh) 2022 May; 9(13): 2105160. Published online 2022 Mar 1. doi: 10.1002/advs.202105160

PMCID:: PMC9069384

Abstract Article PDF–12M

Select item 78716084.

FKBP10 promotes proliferation of glioma cells via activating AKT-CREB-PCNA axis

Hong-Qing Cai, Min-Jie Zhang, Zhi-Jian Cheng, Jing Yu, Qing Yuan, Jin Zhang, Yan Cai, Li-Yan Yang, Yu Zhang, Jia-Jie Hao, Ming-Rong Wang, Jing-Hai Wan

J Biomed Sci. 2021; 28: 13. Published online 2021 Feb 9. doi: 10.1186/s12929-020-00705-3

PMCID:: PMC7871608

Abstract Article PDF–13M

Select item 66093165.

Comprehensive evaluation of FKBP10 expression and its prognostic potential in gastric cancer

Liang Liang, Kun Zhao, Jin-Hui Zhu, Gang Chen, Xin-Gan Qin, Jun-Qiang Chen

Oncol Rep. 2019 Aug; 42(2): 615–628. Published online 2019 Jun 11. doi: 10.3892/or.2019.7195

PMCID:: PMC6609316

Abstract Article PDF–2.3M

Select item 59704566.

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi, Mohammad Ali Faghihi

BMC Med Genet. 2018; 19: 86. Published online 2018 May 25. doi: 10.1186/s12881-018-0579-8

PMCID:: PMC5970456

Abstract Article PDF–2.9M

Select item 37705347.

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations

Aileen M. Barnes, Geraldine Duncan, MaryAnn Weis, William Paton, Wayne A. Cabral, Edward L. Mertz, Elena Makareeva, Michael J. Gambello, Felicitas L. Lacbawan, Sergey Leikin, Andrzej Fertala, David R. Eyre, Sherri J. Bale, Joan C. Marini

Hum Mutat. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Hum Mutat. 2013 Sep; 34(9): 1279–1288. Published online 2013 Jul 8. doi: 10.1002/humu.22362

PMCID:: PMC3770534

Abstract Article PDF–4.7M

Select item 36060108.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Ulrike Schwarze, Tim Cundy, Shawna M. Pyott, Helena E. Christiansen, Madhuri R. Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen Raney, Dusica Babovic-Vuksanovic, Joan Stoler, Ziva Ben-Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida Al-Aqeel, Mark Hannibal, Louanne Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John Mahan, Rosemarie Smith, Kwame Anyane-Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elaine C. Davis, Lammy S. Kim, Mary Ann Weis, David Eyre, Peter H. Byers

Hum Mol Genet. 2013 Jan 1; 22(1): 1–17. Published online 2012 Sep 4. doi: 10.1093/hmg/dds371

PMCID:: PMC3606010

Abstract Article PDF–684K

Select item 34707389.

Absence of FKBP10 in Recessive Type XI Osteogenesis Imperfecta Leads to Diminished Collagen Cross-Linking and Reduced Collagen Deposition in Extracellular Matrix

Aileen M. Barnes, Wayne A. Cabral, MaryAnn Weis, Elena Makareeva, Edward L. Mertz, Sergey Leikin, David Eyre, Carlos Trujillo, Joan C. Marini

Hum Mutat. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Hum Mutat. 2012 Nov; 33(11): 1589–1598. Published online 2012 Jul 16. doi: 10.1002/humu.22139

PMCID:: PMC3470738

Abstract Article PDF–1.2M

Select item 327000510.

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

Ortrud K Steinlein, Eric Aichinger, Holger Trucks, Thomas Sander

BMC Med Genet. 2011; 12: 152. Published online 2011 Nov 22. doi: 10.1186/1471-2350-12-152

PMCID:: PMC3270005

Abstract Article PDF–550K

Select item 317929311.

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

Brian P Kelley, Fransiska Malfait, Luisa Bonafe, Dustin Baldridge, Erica Homan, Sofie Symoens, Andy Willaert, Nursel Elcioglu, Lionel Van Maldergem, Christine Verellen-Dumoulin, Yves Gillerot, Dobrawa Napierala, Deborah Krakow, Peter Beighton, Andrea Superti-Furga, Anne De Paepe, Brendan Lee

J Bone Miner Res. 2011 Mar; 26(3): 666–672. Published online 2010 Sep 13. doi: 10.1002/jbmr.250

PMCID:: PMC3179293

Abstract Article PDF–235K

Select item 285043012.

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, G. Eda Utine, Koray Boduroglu, Dilek Aktas, Mehmet Alikasifoglu, Ergul Tuncbilek, Diclehan Orhan, Filiz Tiker Bakar, Bernard Zabel, Andrea Superti-Furga, Leena Bruckner-Tuderman, Cindy J.R. Curry, Shawna Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. Merrill, Elaine C. Davis, Daniel H. Cohn, Nurten Akarsu, Deborah Krakow

Am J Hum Genet. 2010 Apr 9; 86(4): 551–559. doi: 10.1016/j.ajhg.2010.02.022