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Select item 114082501.

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway

Rebekah de Nys, Alison Gardner, Clare van Eyk, Stefka Mincheva-Tasheva, Paul Thomas, Rudrarup Bhattacharjee, Lachlan Jolly, Isabel Martinez-Garay, Ian W. J. Fox, Karthik Shantharam Kamath, Raman Kumar, Jozef Gecz

Mol Psychiatry. 2024; 29(7): 2199–2210. Published online 2024 Mar 7. doi: 10.1038/s41380-024-02482-z

PMCID:: PMC11408250

Abstract Article PDF–2.7M

Select item 111719912.

NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy

Renata Szalai, Kinga Hadzsiev, Agnes Till, Andras Fogarasi, Timea Bodo, Gergely Buki, Zsolt Banfai, Judit Bene

Int J Mol Sci. 2024 Jun; 25(11): 5732. Published online 2024 May 24. doi: 10.3390/ijms25115732

PMCID:: PMC11171991

Abstract Article PDF–1.1M

Select item 107963443.

Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti, Giulia Baldassarri, Marina Trivisano, Simona Pellacani, Letizia Macconi, Daniela Longo, Maria Camilla Rossi Espagnet, Simona Cappelletti, PCDH19 Clinical Study Group, Ludovico D’Incerti, Carmen Barba, Nicola Specchio, Renzo Guerrini

Transl Psychiatry. 2024; 14: 35. Published online 2024 Jan 18. doi: 10.1038/s41398-024-02753-x

PMCID:: PMC10796344

Abstract Article PDF–2.2M

Select item 103459634.

A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2–Bispecific Antibody for Combination Cancer Therapy

Amr El Zawily, Frederick S. Vizeacoumar, Renuka Dahiya, Sara L. Banerjee, Kalpana K. Bhanumathy, Hussain Elhasasna, Glinton Hanover, Jessica C. Sharpe, Malkon G. Sanchez, Paul Greidanus, R. Greg Stacey, Kyung-Mee Moon, Ilya Alexandrov, Juha P. Himanen, Dimitar B. Nikolov, Humphrey Fonge, Aaron P. White, Leonard J. Foster, Bingcheng Wang, Behzad M. Toosi, Nicolas Bisson, Tajib A. Mirzabekov, Franco J. Vizeacoumar, Andrew Freywald

Clin Cancer Res. 2023 Jul 14; 29(14): 2686–2701. Published online 2023 Mar 28. doi: 10.1158/1078-0432.CCR-22-2535

PMCID:: PMC10345963

Abstract Article PDF–13M

Select item 100482325.

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane

Genes (Basel) 2023 Mar; 14(3): 598. Published online 2023 Feb 27. doi: 10.3390/genes14030598

PMCID:: PMC10048232

Abstract Article PDF–270K

Select item 96693186.

Yi Chen, Xiaoxu Yang, Jiaoyang Chen, Xiaoling Yang, Ying Yang, Aijie Liu, Xiaoli Zhang, Wenjuan Wu, Dan Sun, Zhixian Yang, Yuwu Jiang, Yuehua Zhang

Front Neurol. 2022; 13: 1041509. Published online 2022 Nov 3. doi: 10.3389/fneur.2022.1041509

PMCID:: PMC9669318

Abstract Article PDF–741K

Select item 93869237.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti

BMC Med Genomics. 2022; 15: 181. Published online 2022 Aug 17. doi: 10.1186/s12920-022-01313-w

PMCID:: PMC9386923

Abstract Article PDF–1.2M

Select item 91527038.

The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes

Laura Gerosa, Sara Mazzoleni, Francesco Rusconi, Alessandra Longaretti, Elly Lewerissa, Silvia Pelucchi, Luca Murru, Serena Gea Giannelli, Vania Broccoli, Elena Marcello, Nael Nadif Kasri, Elena Battaglioli, Maria Passafaro, Silvia Bassani

Cell Rep. 2022 May 24; 39(8): 110857. Published online 2022 May 24. doi: 10.1016/j.celrep.2022.110857

PMCID:: PMC9152703

Abstract Article

Select item 85529079.

SARS‐CoV‐2–host proteome interactions for antiviral drug discovery

Xiaonan Liu, Sini Huuskonen, Tuomo Laitinen, Taras Redchuk, Mariia Bogacheva, Kari Salokas, Ina Pöhner, Tiina Öhman, Arun Kumar Tonduru, Antti Hassinen, Lisa Gawriyski, Salla Keskitalo, Maria K Vartiainen, Vilja Pietiäinen, Antti Poso, Markku Varjosalo

Mol Syst Biol. 2021 Nov; 17(11): e10396. Published online 2021 Oct 28. doi: 10.15252/msb.202110396

PMCID:: PMC8552907

Abstract Article PDF–3.9M

Select item 816503010.

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 814401511.

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

Mami Shibata, Atsushi Ishii, Ayako Goto, Shinichi Hirose

J Hum Genet. 2021; 66(6): 569–578. Published online 2020 Dec 2. doi: 10.1038/s10038-020-00880-z

PMCID:: PMC8144015

Abstract Article PDF–1.5M

Select item 757987112.

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky

BMC Med Genet. 2020; 21: 209. Published online 2020 Oct 21. doi: 10.1186/s12881-020-01119-6

PMCID:: PMC7579871

Abstract Article PDF–2.9M

Select item 728403113.

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome

Xuechao Zhao, Yanhong Wang, Shiyue Mei, Xiangdong Kong

Mol Genet Genomic Med. 2020 Jun; 8(6): e1234. Published online 2020 Apr 21. doi: 10.1002/mgg3.1234

PMCID:: PMC7284031

Abstract Article PDF–673K

Select item 719850314.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kristy L. Kolc, Lynette G. Sadleir, Christel Depienne, Carla Marini, Ingrid E. Scheffer, Rikke S. Møller, Marina Trivisano, Nicola Specchio, Duyen Pham, Raman Kumar, Rachel Roberts, Jozef Gecz

Transl Psychiatry. 2020; 10: 127. Published online 2020 May 4. doi: 10.1038/s41398-020-0803-0

PMCID:: PMC7198503

Abstract Article PDF–1.3M

Select item 702154915.

PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential

Leena Yadav, Elina Pietilä, Tiina Öhman, Xiaonan Liu, Arun K. Mahato, Yulia Sidorova, Kaisa Lehti, Mart Saarma, Markku Varjosalo

iScience. 2020 Feb 21; 23(2): 100871. Published online 2020 Jan 31. doi: 10.1016/j.isci.2020.100871

PMCID:: PMC7021549

Abstract Article PDF–8.1M

Select item 694204416.

Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity

Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller

Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119