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Items: 1 to 20 of 54

1.
Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma
Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn
Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255
PMCID:
PMC10916866
AbstractArticlePDF–4.7M
2.
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Ashley Moller-Hansen, Duha Hejla, Hyun Kyung Lee, Jenea Barbara Lyles, Yunhan Yang, Kun Chen, Wenhui Laura Li, Gary Thomas, Cornelius F. Boerkoel
Am J Med Genet A. Author manuscript; available in PMC 2024 Aug 1.
Published in final edited form as: Am J Med Genet A. 2023 Aug; 191(8): 2181–2187. Published online 2023 May 4. doi: 10.1002/ajmg.a.63232
PMCID:
PMC10524240
AbstractArticlePDF–881K
3.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
4.
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Am J Med Genet A. 2023 Jan; 191(1): 284–288. Published online 2022 Oct 9. doi: 10.1002/ajmg.a.62984
PMCID:
PMC10092205
ArticlePDF–5.1M
5.
ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold
Wenjing Yang, Beili Wang, Qian Yu, Te Liu, Tong Li, Tongtong Tian, Anli Jin, Lin Ding, Wei Chen, Hao Wang, Jingrong Xian, Baishen Pan, Jian Zhou, Jia Fan, Xinrong Yang, Wei Guo
Theranostics. 2022; 12(14): 6189–6206. Published online 2022 Aug 21. doi: 10.7150/thno.72134
PMCID:
PMC9475462
AbstractArticlePDF–4.6M
6.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
7.
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
Elena A. Sorokina, Linda M. Reis, Samuel Thompson, Katherine Agre, Dusica Babovic-Vuksanovic, Marissa S. Ellingson, Linda Hasadsri, Yolande van Bever, Elena V. Semina
Hum Genet. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Hum Genet. 2021 Dec; 140(12): 1775–1789. Published online 2021 Oct 12. doi: 10.1007/s00439-021-02384-y
PMCID:
PMC9241141
AbstractArticlePDF–1.0M
8.
Physical and functional interactome atlas of human receptor tyrosine kinases
Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041
PMCID:
PMC9171411
AbstractArticlePDF–1.9M
9.
A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum
Yuan Liu, Hongke Ding, Tizhen Yan, Ling Liu, Lihua Yu, Yanlin Huang, Fake Li, Yukun Zeng, Weiwei Huang, Yan Zhang, Aihua Yin
Front Genet. 2021; 12: 690216. Published online 2021 Jul 23. doi: 10.3389/fgene.2021.690216
PMCID:
PMC8346485
AbstractArticlePDF–1.0M
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.
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Genes (Basel) 2021 May; 12(5): 738. Published online 2021 May 13. doi: 10.3390/genes12050738
PMCID:
PMC8153584
AbstractArticlePDF–583K
12.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Genome Med. 2021; 13: 40. Published online 2021 Mar 17. doi: 10.1186/s13073-021-00855-5
PMCID:
PMC7968334
AbstractArticlePDF–1.1M
13.
Dysregulation of hsa-miR-34a and hsa-miR-449a leads to overexpression of PACS-1 and loss of DNA damage response (DDR) in cervical cancer
Mysore S. Veena, Santanu Raychaudhuri, Saroj K. Basak, Natarajan Venkatesan, Parameet Kumar, Roopa Biswas, Rita Chakrabarti, Jing Lu, Trent Su, Marcus Gallagher-Jones, Marco Morselli, Haiqing Fu, Matteo Pellegrini, Theodore Goldstein, Mirit I. Aladjem, Matthew B. Rettig, Sharon P. Wilczynski, Daniel Sanghoon Shin, Eri S. Srivatsan
J Biol Chem. 2020 Dec 11; 295(50): 17169–17186. Published online 2020 Oct 7. doi: 10.1074/jbc.RA120.014048
PMCID:
PMC7863911
AbstractArticlePDF–6.4M
14.
N‐Terminomics for the Identification of In Vitro Substrates and Cleavage Site Specificity of the SARS‐CoV‐2 Main Protease
Tomas Koudelka, Juliane Boger, Alessandra Henkel, Robert Schönherr, Stefanie Krantz, Sabine Fuchs, Estefanía Rodríguez, Lars Redecke, Andreas Tholey
Proteomics. 2021 Jan; 21(2): 2000246. Published online 2020 Nov 17. doi: 10.1002/pmic.202000246
PMCID:
PMC7645863
AbstractArticlePDF–497K
15.
The Multifunctional Protein PACS-1 is Required for HDAC2 and HDAC3 Dependent Chromatin Maturation and Genomic Stability
Chinnadurai Mani, Kaushlendra Tripathi, Shan Luan, David W. Clark, Joel F. Andrews, Alessandro Vindigni, Gary Thomas, Komaraiah Palle
Oncogene. Author manuscript; available in PMC 2020 Jul 27.
Published in final edited form as: Oncogene. 2020 Mar; 39(12): 2583–2596. Published online 2020 Jan 27. doi: 10.1038/s41388-020-1167-x
PMCID:
PMC7085454
AbstractArticlePDF–2.6M
16.
The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2
Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari
Mol Cell. Author manuscript; available in PMC 2020 Feb 21.
Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001
PMCID:
PMC6386588
AbstractArticlePDF–1.7M
17.
Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells
Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo
Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31
PMCID:
PMC5839158
AbstractArticlePDF–1.9M
18.
Association Study of Three Gene Polymorphisms Recently Identified by a Genome-Wide Association Study with Obesity-Related Phenotypes in Chinese Children
Qi-Ying Song, Jie-Yun Song, Yang Wang, Shuo Wang, Yi-De Yang, Xiang-Rui Meng, Jun Ma, Hai-Jun Wang, Yan Wang
Obes Facts. 2017 Jul; 10(3): 179–190. Published online 2017 Jun 1. doi: 10.1159/000471487
PMCID:
PMC5644913
AbstractArticlePDF–740K
19.
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
20.
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures
Diana Stern, Megan T. Cho, Rashmi Chikarmane, Rebecca Willaert, Kyle Retterer, Fran Kendall, Matthew Deardorff, Sarah Hopkins, Emma Bedoukian, Anne Slavotinek, Samantha Schrier Vergano, Brooke Spangler, Marie McDonald, Allyn McConkie-Rosell, Barbara K. Burton, Katherine H. Kim, Nelly Oundjian, David Kronn, Nandini Chandy, Berivan Baskin, Maria J. Guillen Sacoto, Ingrid M. Wentzensen, Heather M. McLaughlin, Dianalee McKnight, Wendy K. Chung
Clin Genet. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Clin Genet. 2017 Aug; 92(2): 221–223. Published online 2017 Jan 23. doi: 10.1111/cge.12956
PMCID:
PMC5513756
AbstractArticlePDF–75K

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