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Items: 1 to 20 of 25

1.
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children
Jiaojiao Liu, Qian Shen, Guomin Li, Yihui Zhai, Xiaoyan Fang, Hong Xu
Ren Fail. 2018; 40(1): 520–526. Published online 2018 Sep 19. doi: 10.1080/0886022X.2018.1487858
PMCID:
PMC6147104
AbstractArticlePDF–796K
2.
Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations
Majdi Nagara, Konstantinos Voskarides, Sonia Nouira, Nizar Ben Halim, Rym Kefi, Hajer Aloulou, Lilia Romdhane, Rim Ben Abdallah, Faten Ben Rhouma, Khaoula Aissa, Lamia Boughamoura, Thouraya Kammoun, Hatem Azzouz, Saoussen Abroug, Hathemi Ben Turkia, Abdelkarim Ayadi, Ridha Mrad, Imen Chabchoub, Mongia Hachicha, Jalel Chemli, Constantinos Deltas, Sonia Abdelhak
Genet Test Mol Biomarkers. 2014 Nov 1; 18(11): 741–748. doi: 10.1089/gtmb.2014.0175
PMCID:
PMC4217022
AbstractArticlePDF–441K
3.
Function of a Subunit Isoforms of the V-ATPase in pH Homeostasis and in Vitro Invasion of MDA-MB231 Human Breast Cancer Cells
Ayana Hinton, Souad R. Sennoune, Sarah Bond, Min Fang, Moshe Reuveni, G. Gary Sahagian, Daniel Jay, Raul Martinez-Zaguilan, Michael Forgac
J Biol Chem. 2009 Jun 12; 284(24): 16400–16408. Published online 2009 Apr 14. doi: 10.1074/jbc.M901201200
PMCID:
PMC2713521
AbstractArticlePDF–1.1M
4.
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34
Fiona E. Karet, Karin E. Finberg, Ahmet Nayir, Aysin Bakkaloglu, Seza Ozen, Sally A. Hulton, Sami A. Sanjad, Essam A. Al-Sabban, Juan F. Medina, Richard P. Lifton
Am J Hum Genet. 1999 Dec; 65(6): 1656–1665. Published online 1999 Nov 5. doi: 10.1086/302679
PMCID:
PMC1288376
AbstractArticlePDF–378K
5.
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes
Donia Elhayek, Gustavo Perez de Nanclares, Slaheddine Chouchane, Saber Hamami, Adnène Mlika, Monia Troudi, Nadia Leban, Wafa Ben Romdane, Mohamed Neji Gueddiche, Féthi El Amri, Samir Mrabet, Jemni Ben Chibani, Luis Castaño, Amel Haj Khelil, Gema Ariceta
BMC Med Genet. 2013; 14: 119. Published online 2013 Nov 20. doi: 10.1186/1471-2350-14-119
PMCID:
PMC4225572
AbstractArticlePDF–490K
6.
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
AbstractArticlePDF–1.2M
7.
The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase
Sim Namkoong, Kang Il Lee, Jin I Lee, Rackhyun Park, Eun-Ju Lee, Ik-Soon Jang, Junsoo Park
Autophagy. 2015 May; 11(5): 756–768. Published online 2015 May 7. doi: 10.1080/15548627.2015.1034412
PMCID:
PMC4509440
AbstractArticlePDF–1.2M
8.
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
E Stover, K Borthwick, C Bavalia, N Eady, D Fritz, N Rungroj, A Giersch, C Morton, P Axon, I Akil, E Al-Sabban, D Baguley, S Bianca, A Bakkaloglu, Z Bircan, D Chauveau, M Clermont, A Guala, S Hulton, H Kroes, V Li, S Mir, H Mocan, A Nayir, S Ozen, S Rodriguez, S Sanjad, V Tasic, C Taylor, R Topaloglu, A Smith, F Karet
J Med Genet. 2002 Nov; 39(11): 796–803. doi: 10.1136/jmg.39.11.796
PMCID:
PMC1735017
SummaryPDF–403K
9.
Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1
Ya Su, Katherine G. Blake-Palmer, Sara Sorrell, Babak Javid, Katherine Bowers, Aiwu Zhou, Simon H. Chang, Seema Qamar, Fiona E. Karet
Am J Physiol Renal Physiol. 2008 Oct; 295(4): F950–F958. Published online 2008 Jul 16. doi: 10.1152/ajprenal.90258.2008
PMCID:
PMC2576143
AbstractArticle
10.
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
AbstractArticle
11.
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients
Pallav Bhatnagar, Shirley Purvis, Emily Barron-Casella, Michael R DeBaun, James F Casella, Dan E Arking, Jeffrey R Keefer
J Hum Genet. Author manuscript; available in PMC 2018 Feb 23.
Published in final edited form as: J Hum Genet. 2011 Apr; 56(4): 316–323. Published online 2011 Feb 17. doi: 10.1038/jhg.2011.12
PMCID:
PMC5825003
AbstractArticlePDF–1.5M
12.
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
13.
The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
M E Finbow, M A Harrison
Biochem J. 1997 Jun 15; 324(Pt 3): 697–712. doi: 10.1042/bj3240697
PMCID:
PMC1218484
SummaryPDF–530K
14.
Identification of HYPK-Interacting Proteins Reveals Involvement of HYPK in Regulating Cell Growth, Cell Cycle, Unfolded Protein Response and Cell Death
Kamalika Roy Choudhury, Swasti Raychaudhuri, Nitai P. Bhattacharyya
PLoS One. 2012; 7(12): e51415. Published online 2012 Dec 10. doi: 10.1371/journal.pone.0051415
PMCID:
PMC3525516
AbstractArticlePDF–914K
15.
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
16.
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development
Pu Wang, Feng Yan, Zhijun Li, Yanbao Yu, Scott E. Parnell, Yue Xiong
J Clin Invest. 2019 Oct 1; 129(10): 4393–4407. Published online 2019 Sep 9. doi: 10.1172/JCI129107
PMCID:
PMC6763242
AbstractArticlePDF–12M
17.
Human Chromosome 7: DNA Sequence and Biology
Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C. Christopoulos, Sanaa Choufani, Dorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H. Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A. P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung-Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J. T. Winsor, Karl-Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap-Chee Tsui
Science. Author manuscript; available in PMC 2010 Jun 9.
Published in final edited form as: Science. 2003 May 2; 300(5620): 767–772. Published online 2003 Apr 10. doi: 10.1126/science.1083423
PMCID:
PMC2882961
AbstractArticlePDF–1.2M
18.
Proteomic Analysis of Human Parotid Gland Exosomes by Multidimensional Protein Identification Technology (MudPIT)
Mireya Gonzalez-Begne, Bingwen Lu, Xuemei Han, Fred K. Hagen, Arthur R. Hand, James E. Melvin, John R. Yates, III
J Proteome Res. Author manuscript; available in PMC 2010 Mar 6.
Published in final edited form as: J Proteome Res. 2009 Mar 6; 8(3): 1304–1314. doi: 10.1021/pr800658c
PMCID:
PMC2693447
AbstractArticlePDF–1.5M
19.
Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes
Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper
J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406
PMCID:
PMC2637050
AbstractArticle
20.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M

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