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Items: 1 to 20 of 53

1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
PACS-1 Mediates Phosphorylation-Dependent Ciliary Trafficking of the Cyclic-Nucleotide-Gated Channel in Olfactory Sensory Neurons
Paul M. Jenkins, Lian Zhang, Gary Thomas, Jeffrey R. Martens
J Neurosci. 2009 Aug 26; 29(34): 10541–10551. doi: 10.1523/JNEUROSCI.1590-09.2009
PMCID:
PMC2749268
AbstractArticlePDF–16M
9.
Caught in the act – protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease
Gary Thomas, Joseph E. Aslan, Laurel Thomas, Pushkar Shinde, Ujwal Shinde, Thomas Simmen
J Cell Sci. 2017 Jun 1; 130(11): 1865–1876. doi: 10.1242/jcs.199463
PMCID:
PMC5482974
AbstractArticle
10.
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
Janneke H.M. Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G. Brunner
Am J Hum Genet. 2012 Dec 7; 91(6): 1122–1127. doi: 10.1016/j.ajhg.2012.10.013
PMCID:
PMC3516611
AbstractArticlePDF–626K
11.
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
12.
Epigenetic control of mitochondrial cell death through PACS1-mediated regulation of BAX/BAK oligomerization
Daniella Brasacchio, Amber E Alsop, Tahereh Noori, Mariam Lufti, Sweta Iyer, Kaylene J Simpson, Phillip I Bird, Ruth M Kluck, Ricky W Johnstone, Joseph A Trapani
Cell Death Differ. 2017 Jun; 24(6): 961–970. Published online 2017 Jan 6. doi: 10.1038/cdd.2016.119
PMCID:
PMC5442465
AbstractArticlePDF–2.1M
13.
An interdomain binding site on HIV-1 Nef interacts with PACS-1 and PACS-2 on endosomes to down-regulate MHC-I
Jimmy D. Dikeakos, Laurel Thomas, Grace Kwon, Johannes Elferich, Ujwal Shinde, Gary Thomas
Mol Biol Cell. 2012 Jun 1; 23(11): 2184–2197. doi: 10.1091/mbc.E11-11-0928
PMCID:
PMC3364181
AbstractArticlePDF–5.7M
14.
AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1
Ina Hinners, Franz Wendler, Hao Fei, Laurel Thomas, Gary Thomas, Sharon A. Tooze
EMBO Rep. 2003 Dec; 4(12): 1182–1189. Published online 2003 Oct 1. doi: 10.1038/sj.embor.7400018
PMCID:
PMC1326413
AbstractArticlePDF–294K
15.
The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic
Gregory K. Scott, Feng Gu, Colin M. Crump, Laurel Thomas, Lei Wan, Yang Xiang, Gary Thomas
EMBO J. 2003 Dec 1; 22(23): 6234–6244. doi: 10.1093/emboj/cdg596
PMCID:
PMC291837
AbstractArticlePDF–438K
16.
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
17.
Viral Bimolecular Fluorescence Complementation: A Novel Tool to Study Intracellular Vesicular Trafficking Pathways
Brennan S. Dirk, Rajesh Abraham Jacob, Aaron L. Johnson, Emily N. Pawlak, P. Craig Cavanagh, Logan Van Nynatten, S. M. Mansour Haeryfar, Jimmy D. Dikeakos
PLoS One. 2015; 10(4): e0125619. Published online 2015 Apr 27. doi: 10.1371/journal.pone.0125619
PMCID:
PMC4411132
AbstractArticlePDF–1.0M
18.
Mining the Human Complexome Database Identifies RBM14 as an XPO1-Associated Protein Involved in HIV-1 Rev Function
Sona Budhiraja, Hongbing Liu, Jacob Couturier, Anna Malovannaya, Jun Qin, Dorothy E. Lewis, Andrew P. Rice
J Virol. 2015 Apr 1; 89(7): 3557–3567. Published online 2015 Jan 14. doi: 10.1128/JVI.03232-14
PMCID:
PMC4403413
AbstractArticlePDF–1.6M
19.
SORLA-Dependent and -Independent Functions for PACS1 in Control of Amyloidogenic Processes
Tilman Burgert, Vanessa Schmidt, Safak Caglayan, Fuyu Lin, Annette Füchtbauer, Ernst-Martin Füchtbauer, Anders Nykjaer, Anne-Sophie Carlo, Thomas E. Willnow
Mol Cell Biol. 2013 Nov; 33(21): 4308–4320. doi: 10.1128/MCB.00628-13
PMCID:
PMC3811889
AbstractArticlePDF–3.5M
20.
A PACS-1, GGA3 and CK2 complex regulates CI-MPR trafficking
Gregory K Scott, Hao Fei, Laurel Thomas, Guruprasad R Medigeshi, Gary Thomas
EMBO J. 2006 Oct 4; 25(19): 4423–4435. Published online 2006 Sep 14. doi: 10.1038/sj.emboj.7601336
PMCID:
PMC1589982
AbstractArticlePDF–644K

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