PMC Links for GEO Profiles (Select 78794717) - PMC

Marcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, Kinga Musiał, Jan Zawadzki, Katarzyna Jobs, Tadeusz Porowski, Anna Rogowska-Kalisz, Anna Jander, Meritrafat Kirolos, Adam Haliński, Aleksandra Krzemień, Aleksandra Sobieszczańska-Droździel, Katarzyna Zachwieja, Bodo B. Beck, Przemysław Sikora, Marcin Zaniew

Ren Fail. 2021; 43(1): 62–70. Published online 2020 Dec 22. doi: 10.1080/0886022X.2020.1860089

PMCID:: PMC7758038

Abstract Article PDF–725K

Select item 74746934.

Structural basis for amino acid exchange by a human heteromeric amino acid transporter

Di Wu, Tamara N. Grund, Sonja Welsch, Deryck J. Mills, Max Michel, Schara Safarian, Hartmut Michel

Proc Natl Acad Sci U S A. 2020 Sep 1; 117(35): 21281–21287. Published online 2020 Aug 17. doi: 10.1073/pnas.2008111117

PMCID:: PMC7474693

Abstract Article PDF–1.6M

Select item 71599115.

Cryo-EM structure of the human heteromeric amino acid transporter b^0,+AT-rBAT

Renhong Yan, Yaning Li, Yi Shi, Jiayao Zhou, Jianlin Lei, Jing Huang, Qiang Zhou

Sci Adv. 2020 Apr; 6(16): eaay6379. Published online 2020 Apr 15. doi: 10.1126/sciadv.aay6379

PMCID:: PMC7159911

Abstract Article PDF–1024K

Select item 56634656.

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

Abstract Article PDF–2.1M

Select item 55581877.

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

Henry J. Martell, Kathie A. Wong, Juan F. Martin, Ziyan Kassam, Kay Thomas, Mark N. Wass

BMC Genomics. 2017; 18(Suppl 5): 550. Published online 2017 Aug 11. doi: 10.1186/s12864-017-3913-1

PMCID:: PMC5558187

Abstract Article PDF–3.5M

Select item 53812648.

Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis

Yang Jiang, Yuan Cao, Yongbin Wang, Wei Li, Xinyi Liu, Yixuan Lv, Xiaoling Li, Jun Mi

Theranostics. 2017; 7(4): 1036–1046. Published online 2017 Feb 26. doi: 10.7150/thno.18005

PMCID:: PMC5381264

Abstract Article PDF–2.2M

Select item 52927999.

Delineation of cystinuria in Saudi Arabia: A case series

Abdulrahman Obaid, Marwan Nashabat, Khalid Al Fakeeh, Abdullah T. Al Qahtani, Majid Alfadhel

BMC Nephrol. 2017; 18: 50. Published online 2017 Feb 6. doi: 10.1186/s12882-017-0469-x

PMCID:: PMC5292799

Abstract Article PDF–355K

Select item 488219010.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 449129711.

Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom

Hannah L. Rhodes, Laura Yarram-Smith, Sarah J. Rice, Ayla Tabaksert, Noel Edwards, Alice Hartley, Mark N. Woodward, Sarah L. Smithson, Charles Tomson, Gavin I. Welsh, Margaret Williams, David T. Thwaites, John A. Sayer, Richard J.M. Coward

Clin J Am Soc Nephrol. 2015 Jul 7; 10(7): 1235–1245. Published online 2015 May 11. doi: 10.2215/CJN.10981114

PMCID:: PMC4491297

Abstract Article

Select item 317805912.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 263705013.

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

Abstract Article

Select item 180152014.

Molecular Genetics of Cystinuria: Identification of Four New Mutations and Seven Polymorphisms, and Evidence for Genetic Heterogeneity

Paolo Gasparini, Maria Julia Calonge, Luigi Bisceglia, Jesus Purroy, Irma Dianzani, Angelo Notarangelo, Ferran Rousaud, Michele Gallucci, Xavier Testar, Alberto Ponzone, Xavier Estivill, Antonio Zorzano, Manuel Palacin, Virginia Nunes, Leopoldo Zelante

Am J Hum Genet. 1995 Oct; 57(4): 781–788.

PMCID:: PMC1801520

Summary Page Browse PDF–1.3M

Select item 180108915.

Mutations in the SLC3A1 Transporter Gene in Cystinuria

Elon Pras, Nina Raben, Eliahu Golomb, Nadir Arber, Ivona Aksentijevich, Jonathan M. Schapiro, Daniela Harel, Giora Katz, Uri Liberman, Mordechai Pras, Daniel L. Kastner

Am J Hum Genet. 1995 Jun; 56(6): 1297–1303.

PMCID:: PMC1801089

Summary Page Browse PDF–1.2M

Select item 173591316.

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

M Font-Llitjos, M Jimenez-Vidal, L Bisceglia, P Di, L de Sanctis, F Rousaud, L Zelante, M Palacin, V Nunes

J Med Genet. 2005 Jan; 42(1): 58–68. doi: 10.1136/jmg.2004.022244

PMCID:: PMC1735913

Summary PDF–158K

Select item 122389617.

Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.

Marta Pineda, Carsten A Wagner, Angelika Bröer, Paul A Stehberger, Simone Kaltenbach, Josep Ll Gelpí, Rafael Martín Del Río, Antonio Zorzano, Manuel Palacín, Florian Lang, Stefan Bröer

Biochem J. 2004 Feb 1; 377(Pt 3): 665–674. doi: 10.1042/BJ20030956