PMC Links for Protein (Select 7706113) - PMC

Select item 65102371.

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

Abstract Article PDF–914K

Select item 30831772.

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

Abstract Article PDF–3.2M

Select item 162033.

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

Abstract Article PDF–254K

Select item 48871254.

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

Abstract Article PDF–838K

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