PMC Links for GEO Profiles (Select 132352994) - PMC

Select item 88754911.

The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts

Vincent Maranda, Marie-Hélène Gaumond, Pierre Moffatt

Int J Mol Sci. 2022 Feb; 23(4): 2148. Published online 2022 Feb 15. doi: 10.3390/ijms23042148

PMCID:: PMC8875491

Abstract Article PDF–4.1M

Select item 81650302.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 71699833.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 65474474.

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson

Hum Genomics. 2019; 13: 25. Published online 2019 Jun 3. doi: 10.1186/s40246-019-0209-3

PMCID:: PMC6547447

Abstract Article PDF–7.2M

Select item 43523435.

A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

Charles R Farber, Adi Reich, Aileen M Barnes, Patricia Becerra, Frank Rauch, Wayne A Cabral, Alison Bae, Aaron Quinlan, Francis H Glorieux, Thomas L Clemens, Joan C Marini

J Bone Miner Res. Author manuscript; available in PMC 2015 Mar 7.

Published in final edited form as: J Bone Miner Res. 2014 Jun; 29(6): 1402–1411. doi: 10.1002/jbmr.2173

PMCID:: PMC4352343

Abstract Article PDF–583K

Select item 39867076.

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

Syndia Lazarus, Aideen M McInerney-Leo, Fiona A McKenzie, Gareth Baynam, Stephanie Broley, Barbra V Cavan, Craig F Munns, Johannes Egbertus Hans Pruijs, David Sillence, Paulien A Terhal, Karena Pryce, Matthew A Brown, Andreas Zankl, Gethin Thomas, Emma L Duncan

BMC Musculoskelet Disord. 2014; 15: 107. Published online 2014 Mar 27. doi: 10.1186/1471-2474-15-107

PMCID:: PMC3986707

Abstract Article PDF–237K

Select item 37480677.

Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V

Zeng Zhang, Mei Li, Jin-Wei He, Wen-Zhen Fu, Chang-Qing Zhang, Zhen-Lin Zhang

PLoS One. 2013; 8(8): e72337. Published online 2013 Aug 20. doi: 10.1371/journal.pone.0072337

PMCID:: PMC3748067

Abstract Article PDF–326K

Select item 36886728.

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

Jay R Shapiro, Caressa Lietman, Monica Grover, James T Lu, Sandesh CS Nagamani, Brian C Dawson, Dustin M Baldridge, Matthew N Bainbridge, Dan H Cohn, Maria Blazo, Timothy T Roberts, Feng-Shu Brennen, Yimei Wu, Richard A Gibbs, Pamela Melvin, Philippe M Campeau, Brendan H Lee

J Bone Miner Res. 2013 Jul; 28(7): 1523–1530. Published online 2013 Jun 18. doi: 10.1002/jbmr.1891

PMCID:: PMC3688672

Abstract Article PDF–1.0M

Select item 34995469.

Evolutionary Dynamics of the Interferon-Induced Transmembrane Gene Family in Vertebrates

Zhao Zhang, Jun Liu, Meng Li, Hui Yang, Chiyu Zhang

PLoS One. 2012; 7(11): e49265. Published online 2012 Nov 15. doi: 10.1371/journal.pone.0049265

PMCID:: PMC3499546

Abstract Article PDF–941K

Select item 341554110.

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Oliver Semler, Lutz Garbes, Katharina Keupp, Daniel Swan, Katharina Zimmermann, Jutta Becker, Sandra Iden, Brunhilde Wirth, Peer Eysel, Friederike Koerber, Eckhard Schoenau, Stefan K. Bohlander, Bernd Wollnik, Christian Netzer

Am J Hum Genet. 2012 Aug 10; 91(2): 349–357. doi: 10.1016/j.ajhg.2012.06.011

PMCID:: PMC3415541

Abstract Article PDF–562K

Select item 341553311.

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Tae-Joon Cho, Kyung-Eun Lee, Sook-Kyung Lee, Su Jeong Song, Kyung Jin Kim, Daehyun Jeon, Gene Lee, Ha-Neui Kim, Hye Ran Lee, Hye-Hyun Eom, Zang Hee Lee, Ok-Hwa Kim, Woong-Yang Park, Sung Sup Park, Shiro Ikegawa, Won Joon Yoo, In Ho Choi, Jung-Wook Kim

Am J Hum Genet. 2012 Aug 10; 91(2): 343–348. doi: 10.1016/j.ajhg.2012.06.005