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Items: 12

1.
The phenotypic spectrum of PCDH12 associated disorders - five new cases and review of the literature
Walid Fazeli, Daniel Bamborschke, Abubakar Moawia, Somayeh Bakhtiari, Abbas Tafakhori, Matthias Giersdorf, Andreas Hahn, Anja Weik, Kirsten Kolzter, Sajad Shafiee, Sheng Chih Jin, Friederike Körber, Min Ae Lee-Kirsch, Hossein Darvish, Sebahattin Cirak, Michael C. Kruer, Anne Koy
Eur J Paediatr Neurol. Author manuscript; available in PMC 2023 Feb 19.
Published in final edited form as: Eur J Paediatr Neurol. 2022 Jan; 36: 7–13. Published online 2021 Oct 30. doi: 10.1016/j.ejpn.2021.10.011
PMCID:
PMC9939053
AbstractArticlePDF–644K
2.
Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome
Alicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, Anne Gregor, Maha Zaki, Sahar N. Saleem, Damir Musaev, Jennifer McEvoy-Venneri, Denice Belandres, Naiara Akizu, Jennifer L. Silhavy, Jana Schroth, Rasim Ozgur Rosti, Brett Copeland, Steven M. Lewis, Rebecca Fang, Mahmoud Y. Issa, Huseyin Per, Hakan Gumus, Ayse Kacar Bayram, Sefer Kumandas, Gozde Tugce Akgumus, Emine Z. Erson-Omay, Katsuhito Yasuno, Kaya Bilguvar, Heimer Gali, Nir Pillar, Noam Shomron, Daphna Weissglas-Volkov, Yuval Porat, Yaron Einhorn, Stacey Gabriel, Bruria Ben-Zeev, Murat Gunel, Joseph G. Gleeson
Ann Neurol. Author manuscript; available in PMC 2019 May 10.
Published in final edited form as: Ann Neurol. 2018 Nov; 84(5): 638–647. Published online 2018 Oct 4. doi: 10.1002/ana.25327
PMCID:
PMC6510237
AbstractArticlePDF–914K
3.
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection
Adi Aran, Nuphar Rosenfeld, Ranit Jaron, Paul Renbaum, Shachar Zuckerman, Hila Fridman, Sharon Zeligson, Reeval Segel, Yoav Kohn, Lara Kamal, Moien Kanaan, Yoram Segev, Eyal Mazaki, Ron Rabinowitz, Ori Shen, Ming Lee, Tom Walsh, Mary Claire King, Suleyman Gulsuner, Ephrat Levy-Lahad
Neurology. 2016 May 24; 86(21): 2016–2024. doi: 10.1212/WNL.0000000000002704
PMCID:
PMC4887125
AbstractArticlePDF–838K
4.
Protocadherin-12 Cleavage Is a Regulated Process Mediated by ADAM10 Protein: EVIDENCE OF SHEDDING UP-REGULATION IN PRE-ECLAMPSIA
Stéphanie Bouillot, Emmanuelle Tillet, Guillaume Carmona, Marie-Hélène Prandini, Anne-Sophie Gauchez, Pascale Hoffmann, Nadia Alfaidy, Francine Cand, Philippe Huber
J Biol Chem. 2011 Apr 29; 286(17): 15195–15204. Published online 2011 Mar 14. doi: 10.1074/jbc.M111.230045
PMCID:
PMC3083177
AbstractArticlePDF–3.2M
5.
Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes
Qiang Wu, Tom Maniatis
Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3124–3129. Published online 2000 Mar 14. doi: 10.1073/pnas.060027397
PMCID:
PMC16203
AbstractArticlePDF–254K
6.
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard
Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3
PMCID:
PMC3610214
AbstractArticlePDF–1.7M
7.
The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment
Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski
Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003
Correction in:
Genome Res. 2003 Dec; 13(12): 2759.
PMCID:
PMC403697
AbstractArticlePDF–120K
8.
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
AbstractArticlePDF–630K
9.
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
AbstractArticlePDF–2.7M
10.
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
AbstractArticlePDF–2.2M
11.
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
AbstractArticlePDF–118K
12.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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