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Select item 111805021.

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene

Wade Jodeh, Amy J Katz, Marian Hart, Stuart J Warden, Paul Niziolek, Imranul Alam, Steven Ing, Lynda E Polgreen, Erik A Imel, Michael J Econs

J Clin Endocrinol Metab. 2024 Jul; 109(7): 1726–1732. Published online 2024 Jan 23. doi: 10.1210/clinem/dgae040

PMCID:: PMC11180502

Article

Select item 101375762.

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

Article PDF–3.3M

Select item 70727983.

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

Article PDF–10M

Select item 59929824.

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

Article PDF–4.0M

Select item 57294565.

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

Article PDF–4.1M

Select item 56720676.

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

Article PDF–7.3M

Select item 50791577.

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

Article PDF–146K

Select item 49228978.

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

Article PDF–508K

Select item 40555229.

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

Article PDF–234K

Select item 298626210.

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

Elena A Bliznetz, Svetlana M Tverskaya, Rena A Zinchenko, Anna V Abrukova, Ekaterina N Savaskina, Maxim V Nikulin, Alexander G Kirillov, Evgeny K Ginter, Alexander V Polyakov

Eur J Hum Genet. 2009 May; 17(5): 664–672. Published online 2009 Jan 28. doi: 10.1038/ejhg.2008.234

PMCID:: PMC2986262

Article PDF–212K

Select item 860621711.

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

Article PDF–1.4M

Select item 578978712.

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

Article PDF–587K

Select item 221759213.

HLA-DR Alpha 2 Mediates Negative Signalling via Binding to Tirc7 Leading to Anti-Inflammatory and Apoptotic Effects in Lymphocytes In Vitro and In Vivo

Grit-Carsta Bulwin, Stephanie Wälter, Mirko Schlawinsky, Thomas Heinemann, Anke Schulze, Wolfgang Höhne, Gerd Krause, Wiltrud Kalka-Moll, Patricia Fraser, Hans-Dieter Volk, Jürgen Löhler, Edgar L. Milford, Nalân Utku

PLoS One. 2008; 3(2): e1576. Published online 2008 Feb 13. doi: 10.1371/journal.pone.0001576

PMCID:: PMC2217592

Article PDF–455K

Select item 173537614.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

K Borthwick, N Kandemir, R Topaloglu, U Kornak, A Bakkaloglu, N Yordam, S Ozen, H Mocan, G Shah, W Sly, F Karet

J Med Genet. 2003 Feb; 40(2): 115–121. doi: 10.1136/jmg.40.2.115

PMCID:: PMC1735376

Summary PDF–325K

Select item 725495315.

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

Article PDF–952K

Select item 382090716.

The Function of Vacuolar ATPase (V-ATPase) a Subunit Isoforms in Invasiveness of MCF10a and MCF10CA1a Human Breast Cancer Cells

Joseph Capecci, Michael Forgac

J Biol Chem. 2013 Nov 8; 288(45): 32731–32741. Published online 2013 Sep 26. doi: 10.1074/jbc.M113.503771

PMCID:: PMC3820907

Article PDF–1.2M

Select item 569158917.

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

Article

Select item 311861918.

Aldolase directly interacts with ARNO and modulates cell morphology and acidic vesicle distribution

Maria Merkulova, Andrés Hurtado-Lorenzo, Hiroyuki Hosokawa, Zhenjie Zhuang, Dennis Brown, Dennis A. Ausiello, Vladimir Marshansky

Am J Physiol Cell Physiol. 2011 Jun; 300(6): C1442–C1455. Published online 2011 Feb 9. doi: 10.1152/ajpcell.00076.2010

PMCID:: PMC3118619

Article

Select item 291570419.

PKA Regulates Vacuolar H⁺-ATPase Localization and Activity via Direct Phosphorylation of the A Subunit in Kidney Cells

Rodrigo Alzamora, Ramon F. Thali, Fan Gong, Christy Smolak, Hui Li, Catherine J. Baty, Carol A. Bertrand, Yolanda Auchli, René A. Brunisholz, Dietbert Neumann, Kenneth R. Hallows, Núria M. Pastor-Soler

J Biol Chem. 2010 Aug 6; 285(32): 24676–24685. Published online 2010 Jun 4. doi: 10.1074/jbc.M110.106278

PMCID:: PMC2915704

Article PDF–1.3M

Select item 358141020.

The N Termini of a-Subunit Isoforms Are Involved in Signaling between Vacuolar H⁺-ATPase (V-ATPase) and Cytohesin-2

Hiroyuki Hosokawa, Phat Vinh Dip, Maria Merkulova, Anastasia Bakulina, Zhenjie Zhuang, Ashok Khatri, Xiaoying Jian, Shawn M. Keating, Stephanie A. Bueler, John L. Rubinstein, Paul A. Randazzo, Dennis A. Ausiello, Gerhard Grüber, Vladimir Marshansky

J Biol Chem. 2013 Feb 22; 288(8): 5896–5913. Published online 2013 Jan 3. doi: 10.1074/jbc.M112.409169

PMCID:: PMC3581410

Article PDF–4.1M

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