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Select item 73245081.

Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice

Salla Ruskamo, Oda C. Krokengen, Julia Kowal, Tuomo Nieminen, Mari Lehtimäki, Arne Raasakka, Venkata P. Dandey, Ilpo Vattulainen, Henning Stahlberg, Petri Kursula

J Biol Chem. 2020 Jun 26; 295(26): 8692–8705. Published online 2020 Apr 7. doi: 10.1074/jbc.RA120.013087

PMCID:: PMC7324508

Abstract Article PDF–3.5M

Select item 66929602.

Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Paulius Palaima, Teodora Chamova, Sebastian Jander, Vanyo Mitev, Christine Van Broeckhoven, Ivailo Tournev, Kristien Peeters, Albena Jordanova

Orphanet J Rare Dis. 2019; 14: 197. Published online 2019 Aug 14. doi: 10.1186/s13023-019-1162-x

PMCID:: PMC6692960

Abstract Article PDF–1.1M

Select item 60202283.

Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins

Saara Laulumaa, Tuomo Nieminen, Arne Raasakka, Oda C. Krokengen, Anushik Safaryan, Erik I. Hallin, Guillaume Brysbaert, Marc F. Lensink, Salla Ruskamo, Ilpo Vattulainen, Petri Kursula

BMC Struct Biol. 2018; 18: 8. Published online 2018 Jun 25. doi: 10.1186/s12900-018-0087-2

PMCID:: PMC6020228

Abstract Article PDF–5.0M

Select item 55294484.

Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2

Salla Ruskamo, Tuomo Nieminen, Cecilie K. Kristiansen, Guro H. Vatne, Anne Baumann, Erik I. Hallin, Arne Raasakka, Päivi Joensuu, Ulrich Bergmann, Ilpo Vattulainen, Petri Kursula

Sci Rep. 2017; 7: 6510. Published online 2017 Jul 26. doi: 10.1038/s41598-017-06781-0

Correction in:: Sci Rep. 2018; 8: 517.

PMCID:: PMC5529448

Abstract Article PDF–5.1M

Select item 50226725.

De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

William W. Motley, Paulius Palaima, Sabrina W. Yum, Michael A. Gonzalez, Feifei Tao, Julia V. Wanschitz, Alleene V. Strickland, Wolfgang N. Löscher, Els De Vriendt, Stefan Koppi, Livija Medne, Andreas R. Janecke, Albena Jordanova, Stephan Zuchner, Steven S. Scherer

Brain. 2016 Jun; 139(6): 1649–1656. Published online 2016 Mar 23. doi: 10.1093/brain/aww055

PMCID:: PMC5022672

Abstract Article PDF–604K

Select item 47354566.

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

Young Bin Hong, Jaesoon Joo, Young Se Hyun, Geon Kwak, Yu-Ri Choi, Ha Kyung Yeo, Dong Hwan Jwa, Eun Ja Kim, Won Min Mo, Soo Hyun Nam, Sung Min Kim, Jeong Hyun Yoo, Heasoo Koo, Hwan Tae Park, Ki Wha Chung, Byung-Ok Choi

PLoS Genet. 2016 Feb; 12(2): e1005829. Published online 2016 Feb 1. doi: 10.1371/journal.pgen.1005829

PMCID:: PMC4735456

Abstract Article PDF–1.9M

Select item 46315887.

Production, crystallization and neutron diffraction of fully deuterated human myelin peripheral membrane protein P2

Saara Laulumaa, Matthew P. Blakeley, Arne Raasakka, Martine Moulin, Michael Härtlein, Petri Kursula

Acta Crystallogr F Struct Biol Commun. 2015 Nov 1; 71(Pt 11): 1391–1395. Published online 2015 Oct 23. doi: 10.1107/S2053230X15017902

PMCID:: PMC4631588

Abstract Article PDF–289K

Select item 39192678.

Atomic resolution view into the structure–function relationships of the human myelin peripheral membrane protein P2

Salla Ruskamo, Ravi P. Yadav, Satyan Sharma, Mari Lehtimäki, Saara Laulumaa, Shweta Aggarwal, Mikael Simons, Jochen Bürck, Anne S. Ulrich, André H. Juffer, Inari Kursula, Petri Kursula

Acta Crystallogr D Biol Crystallogr. 2014 Jan 1; 70(Pt 1): 165–176. Published online 2013 Dec 31. doi: 10.1107/S1399004713027910

PMCID:: PMC3919267

Abstract Article PDF–2.3M

Select item 28586559.

Structural and Functional Characterization of Human Peripheral Nervous System Myelin Protein P2

Viivi Majava, Eugenia Polverini, Alberto Mazzini, Rahul Nanekar, Wiebke Knoll, Judith Peters, Francesca Natali, Peter Baumgärtel, Inari Kursula, Petri Kursula

PLoS One. 2010; 5(4): e10300. Published online 2010 Apr 22. doi: 10.1371/journal.pone.0010300

PMCID:: PMC2858655

Abstract Article PDF–1.7M

Select item 45714210.

The three-dimensional structure of P2 myelin protein.

T A Jones, T Bergfors, J Sedzik, T Unge

EMBO J. 1988 Jun; 7(6): 1597–1604. doi: 10.1002/j.1460-2075.1988.tb02985.x

PMCID:: PMC457142

Summary Page Browse PDF–1.2M

Select item 577684411.

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang

Chin Med J (Engl) 2018 Jan 20; 131(2): 151–155. doi: 10.4103/0366-6999.222331

PMCID:: PMC5776844

Abstract Article PDF–674K

Select item 369318312.

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

Paul D. P. Pharoah, Ya-Yu Tsai, Susan J. Ramus, Catherine M. Phelan, Ellen L. Goode, Kate Lawrenson, Melissa Price, Brooke L. Fridley, Jonathan P. Tyrer, Howard Shen, Rachel Weber, Rod Karevan, Melissa C. Larson, Honglin Song, Daniel C. Tessier, François Bacot, Daniel Vincent, Julie M. Cunningham, Joe Dennis, Ed Dicks, Australian Cancer Study, Australian Ovarian Cancer Study Group, Katja K. Aben, Hoda Anton-Culver, Natalia Antonenkova, Sebastian M. Armasu, Laura Baglietto, Elisa V. Bandera, Matthias W. Beckmann, Michael J. Birrer, Greg Bloom, Natalia Bogdanova, James D. Brenton, Louise A. Brinton, Angela Brooks-Wilson, Robert Brown, Ralf Butzow, Ian Campbell, Michael E Carney, Renato S. Carvalho, Jenny Chang-Claude, Y. Anne Chen, Zhihua Chen, Wong-Ho Chow, Mine S. Cicek, Gerhard Coetzee, Linda S. Cook, Daniel W. Cramer, Cezary Cybulski, Agnieszka Dansonka-Mieszkowska, Evelyn Despierre, Jennifer A Doherty, Thilo Dörk, Andreas du Bois, Matthias Dürst, Diana Eccles, Robert Edwards, Arif B. Ekici, Peter A. Fasching, David Fenstermacher, James Flanagan, Yu-Tang Gao, Montserrat Garcia-Closas, Aleksandra Gentry-Maharaj, Graham Giles, Anxhela Gjyshi, Martin Gore, Jacek Gronwald, Qi Guo, Mari K Halle, Philipp Harter, Alexander Hein, Florian Heitz, Peter Hillemanns, Maureen Hoatlin, Estrid Høgdall, Claus K. Høgdall, Satoyo Hosono, Anna Jakubowska, Allan Jensen, Kimberly R. Kalli, Beth Y. Karlan, Linda E. Kelemen, Lambertus A. Kiemeney, Susanne Krüger Kjaer, Gottfried E. Konecny, Camilla Krakstad, Jolanta Kupryjanczyk, Diether Lambrechts, Sandrina Lambrechts, Nhu D. Le, Nathan Lee, Janet Lee, Arto Leminen, Boon Kiong Lim, Jolanta Lissowska, Jan Lubinski, Lene Lundvall, Galina Lurie, Leon F.A.G. Massuger, Keitaro Matsuo, Valerie McGuire, John R McLaughlin, Usha Menon, Francesmary Modugno, Kirsten B. Moysich, Toru Nakanishi, Steven A. Narod, Roberta B. Ness, Heli Nevanlinna, Stefan Nickels, Houtan Noushmehr, Kunle Odunsi, Sara Olson, Irene Orlow, James Paul, Tanja Pejovic, Liisa M Pelttari, Jenny Permuth-Wey, Malcolm C Pike, Elizabeth M Poole, Xiaotao Qu, Harvey A. Risch, Lorna Rodriguez-Rodriguez, Mary Anne Rossing, Anja Rudolph, Ingo Runnebaum, Iwona K Rzepecka, Helga B. Salvesen, Ira Schwaab, Gianluca Severi, Hui Shen, Vijayalakshmi Shridhar, Xiao-Ou Shu, Weiva Sieh, Melissa C. Southey, Paul Spellman, Kazuo Tajima, Soo-Hwang Teo, Kathryn L. Terry, Pamela J Thompson, Agnieszka Timorek, Shelley S. Tworoger, Anne M. van Altena, David Van Den Berg, Ignace Vergote, Robert A. Vierkant, Allison F. Vitonis, Shan Wang-Gohrke, Nicolas Wentzensen, Alice S. Whittemore, Elisabeth Wik, Boris Winterhoff, Yin Ling Woo, Anna H Wu, Hannah P. Yang, Wei Zheng, Argyrios Ziogas, Famida Zulkifli, Marc T. Goodman, Per Hall, Douglas F Easton, Celeste L Pearce, Andrew Berchuck, Georgia Chenevix-Trench, Edwin Iversen, Alvaro N.A. Monteiro, Simon A. Gayther, Joellen M. Schildkraut, Thomas A. Sellers

Nat Genet. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: Nat Genet. 2013 Apr; 45(4): 362–370e2. doi: 10.1038/ng.2564

PMCID:: PMC3693183

Abstract Article PDF–977K

Select item 44987013.

Lineage-Specific Gene Duplication and Loss in Human and Great Ape Evolution

Andrew Fortna, Young Kim, Erik MacLaren, Kriste Marshall, Gretchen Hahn, Lynne Meltesen, Matthew Brenton, Raquel Hink, Sonya Burgers, Tina Hernandez-Boussard, Anis Karimpour-Fard, Deborah Glueck, Loris McGavran, Rebecca Berry, Jonathan Pollack, James M Sikela

PLoS Biol. 2004 Jul; 2(7): e207. Published online 2004 Jul 13. doi: 10.1371/journal.pbio.0020207

PMCID:: PMC449870

Abstract Article PDF–1.1M

Select item 674264614.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 377350515.

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine

Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake

Proteomics. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561

PMCID:: PMC3773505

Abstract Article PDF–630K

Select item 503652716.

Panorama of ancient metazoan macromolecular complexes

Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili

Nature. Author manuscript; available in PMC 2016 Sep 26.

Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877

PMCID:: PMC5036527

Abstract Article PDF–4.7M

Select item 426658817.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050

PMCID:: PMC4266588

Abstract Article PDF–3.1M

Select item 135612918.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 52892819.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924120.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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