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Items: 1 to 20 of 36

1.
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families
Ghada Y. El-Kamah, Mennat I. Mehrez, Mohamed B. Taher, Hala T. El-Bassyouni, Khaled R. Gaber, Khalda S. Amr
Genes (Basel) 2023 Apr; 14(4): 900. Published online 2023 Apr 12. doi: 10.3390/genes14040900
PMCID:
PMC10137576
AbstractArticlePDF–3.3M
2.
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis
Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang
Mol Genet Genomic Med. 2021 Nov; 9(11): e1815. Published online 2021 Sep 21. doi: 10.1002/mgg3.1815
PMCID:
PMC8606217
AbstractArticlePDF–1.4M
3.
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
4.
Structures of a complete human V-ATPase reveal mechanisms of its assembly
Longfei Wang, Di Wu, Carol V. Robinson, Hao Wu, Tian-Min Fu
Mol Cell. Author manuscript; available in PMC 2021 Nov 5.
Published in final edited form as: Mol Cell. 2020 Nov 5; 80(3): 501–511.e3. Published online 2020 Oct 15. doi: 10.1016/j.molcel.2020.09.029
PMCID:
PMC7655608
AbstractArticlePDF–3.4M
5.
A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export
Dick J. H. van den Boomen, Agata Sienkiewicz, Ilana Berlin, Marlieke L. M. Jongsma, Daphne M. van Elsland, J. Paul Luzio, Jacques J. C. Neefjes, Paul J. Lehner
Nat Commun. 2020; 11: 5559. Published online 2020 Nov 3. doi: 10.1038/s41467-020-19032-0
PMCID:
PMC7642327
AbstractArticlePDF–12M
6.
TIRC7 inhibits Th1 cells by upregulating the expression of CTLA-4 and STAT3 in mice with acute graft-versus-host disease
Feng Zhu, Tingting Qiu, Shengyun Zhu, Kai Zhao, Chong Chen, Jianlin Qiao, Bin Pan, Zhiling Yan, Wei Chen, Qiong Liu, Qingyun Wu, Jiang Cao, Wei Sang, Lingyu Zeng, Haiying Sun, Zhenyu Li, Kailin Xu
Oncol Rep. 2020 Jul; 44(1): 43–54. Published online 2020 Apr 21. doi: 10.3892/or.2020.7588
PMCID:
PMC7254953
AbstractArticlePDF–952K
7.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
8.
The Vacuolar H+ ATPase α3 Subunit Negatively Regulates Migration and Invasion of Human Pancreatic Ductal Adenocarcinoma Cells
Mette Flinck, Sofie Hagelund, Andrej Gorbatenko, Marc Severin, Elena Pedraz-Cuesta, Ivana Novak, Christian Stock, Stine Falsig Pedersen
Cells. 2020 Feb; 9(2): 465. Published online 2020 Feb 28. doi: 10.3390/cells9020465
PMCID:
PMC7072798
AbstractArticlePDF–10M
9.
WWP2 ubiquitylates RNA polymerase II for DNA-PK-dependent transcription arrest and repair at DNA breaks
Pierre Caron, Tibor Pankotai, Wouter W. Wiegant, Maxim A.X. Tollenaere, Audrey Furst, Celine Bonhomme, Angela Helfricht, Anton de Groot, Albert Pastink, Alfred C.O. Vertegaal, Martijn S. Luijsterburg, Evi Soutoglou, Haico van Attikum
Genes Dev. 2019 Jun 1; 33(11-12): 684–704. doi: 10.1101/gad.321943.118
PMCID:
PMC6546063
AbstractArticlePDF–8.4M
10.
T-cell immune regulator 1 enhances metastasis in hepatocellular carcinoma
Hee Doo Yang, Jung Woo Eun, Kyung-Bun Lee, Qingyu Shen, Hyung Seok Kim, Sang Yean Kim, Dong-Wan Seo, Won Sang Park, Jung Young Lee, Suk Woo Nam
Exp Mol Med. 2018 Jan; 50(1): e420. Published online 2018 Jan 5. doi: 10.1038/emm.2017.166
PMCID:
PMC5992982
AbstractArticlePDF–4.0M
11.
Epiregulin (EREG) and human V-ATPase (TCIRG1): genetic variation, ethnicity and pulmonary tuberculosis susceptibility in Guinea-Bissau and The Gambia
Marquitta J. White, Alessandra Tacconelli, Jane S. Chen, Christian Wejse, Philip C. Hill, Victor F Gomez, Digna R. Velez-Edwards, Lars J. Østergaard, Ting Hu, Jason H. Moore, Giuseppe Novelli, William K. Scott, Scott M. Williams, Giorgio Sirugo
Genes Immun. Author manuscript; available in PMC 2018 Jan 30.
Published in final edited form as: Genes Immun. 2014 Sep; 15(6): 370–377. Published online 2014 Jun 5. doi: 10.1038/gene.2014.28
PMCID:
PMC5789787
AbstractArticlePDF–587K
12.
Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir
BMC Med Genet. 2017; 18: 148. Published online 2017 Dec 13. doi: 10.1186/s12881-017-0506-4
PMCID:
PMC5729456
AbstractArticlePDF–4.1M
13.
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport
Brian W. Kunkle, Badri N. Vardarajan, Adam C. Naj, Patrice L. Whitehead, Sophie Rolati, Susan Slifer, Regina M. Carney, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Li-San Wang, Lindsay A. Farrer, Christiane Reitz, Jonathan L. Haines, Gary W. Beecham, Eden R. Martin, Gerard D. Schellenberg, Richard P. Mayeux, Margaret A. Pericak-Vance
JAMA Neurol. 2017 Sep; 74(9): 1113–1122. Prepublished online 2017 Jul 24. Published online 2017 Sep 11. doi: 10.1001/jamaneurol.2017.1518
PMCID:
PMC5691589
AbstractArticle
14.
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families
Xiao-ya Zhang, Jin-wei He, Wen-zhen Fu, Chun Wang, Zhen-lin Zhang
Acta Pharmacol Sin. 2017 Nov; 38(11): 1456–1465. Published online 2017 Aug 17. doi: 10.1038/aps.2017.108
PMCID:
PMC5672067
AbstractArticlePDF–7.3M
15.
A Global Analysis of The Receptor Tyrosine Kinase – Protein Phosphatase Interactome
Zhong Yao, Katelyn Darowski, Nicole St-Denis, Victoria Wong, Fabian Offensperger, Annabel Villedieu, Shahreen Amin, Ramy Malty, Hiroyuki Aoki, Hongbo Guo, Yang Xu, Caterina Iorio, Max Kotlyar, Andrew Emili, Igor Jurisica, Benjamin G Neel, Mohan Babu, Anne-Claude Gingras, Igor Stagljar
Mol Cell. Author manuscript; available in PMC 2017 Oct 31.
Published in final edited form as: Mol Cell. 2017 Jan 19; 65(2): 347–360. Published online 2017 Jan 5. doi: 10.1016/j.molcel.2016.12.004
PMCID:
PMC5663465
AbstractArticlePDF–2.1M
16.
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
17.
Association between absolute neutrophil count and variation at TCIRG1: the NHLBI Exome Sequencing Project
Elisabeth A. Rosenthal, Vahagn Makaryan, Amber A. Burt, David R. Crosslin, Daniel Seung Kim, Joshua D. Smith, Deborah A. Nickerson, Alex P. Reiner, Stephen S. Rich, Rebecca D. Jackson, Santhi K. Ganesh, Linda Polfus, Lihong Qi, David C. Dale, UW Center for Mendelian Genomics, Gail P. Jarvik, on behalf of the NHLBI GO Exome Sequencing Project
Genet Epidemiol. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Genet Epidemiol. 2016 Sep; 40(6): 470–474. Published online 2016 May 27. doi: 10.1002/gepi.21976
PMCID:
PMC5079157
AbstractArticlePDF–146K
18.
Regulation of V-ATPase Assembly and Function of V-ATPases in Tumor Cell Invasiveness
Christina McGuire, Kristina Cotter, Laura Stransky, Michael Forgac
Biochim Biophys Acta. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Biochim Biophys Acta. 2016 Aug; 1857(8): 1213–1218. Published online 2016 Feb 22. doi: 10.1016/j.bbabio.2016.02.010
PMCID:
PMC4922897
AbstractArticlePDF–508K
19.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
20.
TCIRG1 associated Congenital Neutropenia
Vahagn Makaryan, Elisabeth A. Rosenthal, Audrey Anna Bolyard, Merideth L. Kelley, Jennifer E. Below, Michael J. Bamshad, Kathryn M. Bofferding, Joshua D. Smith, Kati Buckingham, Laurence A. Boxer, Julia Skokowa, Karl Welte, Deborah A. Nickerson, Gail P. Jarvik, David C. Dale, for the UW Center for Mendelian Genomics
Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.
Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 824–827. Published online 2014 May 21. doi: 10.1002/humu.22563
PMCID:
PMC4055522
AbstractArticlePDF–234K

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