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Select item 111719911.

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 107963442.

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 100482323.

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 96693184.

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 93869235.

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 91527036.

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 85529077.

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 81650308.

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 81440159.

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 757987110.

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 728403111.

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 719850312.

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 702154913.

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 694204414.

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

PMCID:: PMC6942044

Abstract Article PDF–10M

Select item 658108015.

Mosaicism and incomplete penetrance of PCDH19 mutations

Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei, Yuehua Zhang

J Med Genet. 2019 Feb; 56(2): 81–88. Published online 2018 Oct 4. doi: 10.1136/jmedgenet-2017-105235

PMCID:: PMC6581080

Abstract Article PDF–2.3M

Select item 634437216.

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Kristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, Atma Ivancevic, Rachel Roberts, Duyen H Pham, Jozef Gecz

Mol Psychiatry. 2019; 24(2): 241–251. Published online 2018 Jun 11. doi: 10.1038/s41380-018-0066-9

PMCID:: PMC6344372

Abstract Article PDF–860K

Select item 626491217.

Lacey Smith, Nilika Singhal, Christelle M. El Achkar, Gessica Truglio, Rosen-Sheidley Beth, Joseph Sullivan, Annapurna Poduri

Epilepsia. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Epilepsia. 2018 Mar; 59(3): 679–689. Published online 2018 Jan 28. doi: 10.1111/epi.14003

Correction in:: Epilepsia. 2018 Jun; 59(6): 1272.

PMCID:: PMC6264912

Abstract Article PDF–504K

Select item 616668218.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 598765019.

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Chen

BMC Med Genet. 2018; 19: 92. Published online 2018 Jun 4. doi: 10.1186/s12881-018-0621-x

PMCID:: PMC5987650

Abstract Article PDF–1.1M

Select item 553161120.

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

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