PMC Links for Protein (Select 75905801) - PMC

Select item 59700901.

BBS9 gene in nonsyndromic craniosynostosis: role of the primary cilium in the aberrant ossification of the suture osteogenic niche

Marta Barba, Lorena Di Pietro, Luca Massimi, Maria Concetta Geloso, Paolo Frassanito, Massimo Caldarelli, Fabrizio Michetti, Stefano Della Longa, Paul A. Romitti, Concezio Di Rocco, Alessandro Arcovito, Ornella Parolini, Gianpiero Tamburrini, Camilla Bernardini, Simeon Antonov Boyadjiev, Wanda Lattanzi

Bone. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Bone. 2018 Jul; 112: 58–70. Published online 2018 Apr 17. doi: 10.1016/j.bone.2018.04.013

Correction in:: Bone. 2019 Apr; 121: 293.

PMCID:: PMC5970090

Abstract Article PDF–1.5M

Select item 55316112.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 48691703.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 12851604.

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M. Berg, Amanda L. Ferguson, Raoul Hennekam, Saul Merin, Richard G. Weleber, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Am J Hum Genet. 2005 Dec; 77(6): 1021–1033. Published online 2005 Oct 26. doi: 10.1086/498323

PMCID:: PMC1285160

Abstract Article PDF–1.6M

Select item 37363225.

A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9

Cristina M. Justice, Garima Yagnik, Yoonhee Kim, Inga Peter, Ethylin Wang Jabs, Monica Erazo, Xiaoqian Ye, Edmond Ainehsazan, Lisong Shi, Michael L. Cunningham, Virginia Kimonis, Tony Roscioli, Steven A. Wall, Andrew O.M. Wilkie, Joan Stoler, Joan T. Richtsmeier, Yann Heuzé, Pedro A. Sanchez-Lara, Michael F. Buckley, Charlotte M. Druschel, James L. Mills, Michele Caggana, Paul A. Romitti, Denise M. Kay, Craig Senders, Peter J. Taub, Ophir D. Klein, James Boggan, Marike Zwienenberg-Lee, Cyril Naydenov, Jinoh Kim, Alexander F. Wilson, Simeon A. Boyadjiev

Nat Genet. Author manuscript; available in PMC 2013 Aug 7.

Published in final edited form as: Nat Genet. 2012 Dec; 44(12): 1360–1364. Published online 2012 Nov 18. doi: 10.1038/ng.2463

PMCID:: PMC3736322

Abstract Article PDF–2.2M

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