PMC Links for Gene (Select 6561) - PMC

Select item 103486291.

Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain

Xiang Ao, Marc Parisien, Maha Zidan, Audrey V. Grant, Amy E. Martinsen, Bendik S. Winsvold, Luda Diatchenko

Pain. 2023 Aug; 164(8): 1841–1851. Published online 2023 Mar 22. doi: 10.1097/j.pain.0000000000002882

PMCID:: PMC10348629

Select item 100922562.

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

Jiddeke M. van de Kamp, Arend Bökenkamp, Desiree E. C. Smith, Mirjam M. C. Wamelink, Erwin E. W. Jansen, Eduard A. Struys, Quinten Waisfisz, Marieke Verkleij, Michaela F. Hartmann, Rong Wang, Stefan A. Wudy, Chiara Paganini, Antonio Rossi, Martijn J. J. Finken

Clin Genet. 2023 Jan; 103(1): 45–52. Published online 2022 Oct 3. doi: 10.1111/cge.14239

PMCID:: PMC10092256

Abstract Article PDF–1.1M

Select item 88108323.

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Gyda Bjornsdottir, Lilja Stefansdottir, Gudmar Thorleifsson, Patrick Sulem, Kristjan Norland, Egil Ferkingstad, Asmundur Oddsson, Florian Zink, Sigrun H. Lund, Muhammad S. Nawaz, G. Bragi Walters, Astros Th. Skuladottir, Sigurjon A. Gudjonsson, Gudmundur Einarsson, Gisli H. Halldorsson, Valgerdur Bjarnadottir, Gardar Sveinbjornsson, Anna Helgadottir, Unnur Styrkarsdottir, Larus J. Gudmundsson, Ole B. Pedersen, Thomas Folkmann Hansen, Thomas Werge, Karina Banasik, Anders Troelsen, Soren T. Skou, Lise Wegner Thørner, Christian Erikstrup, Kaspar Rene Nielsen, Susan Mikkelsen, DBDS Genetic Consortium, GO Consortium, Ingileif Jonsdottir, Aron Bjornsson, Ingvar H. Olafsson, Elfar Ulfarsson, Josep Blondal, Arnor Vikingsson, Soren Brunak, Sisse R. Ostrowski, Henrik Ullum, Unnur Thorsteinsdottir, Hreinn Stefansson, Daniel F. Gudbjartsson, Thorgeir E. Thorgeirsson, Kari Stefansson

Nat Commun. 2022; 13: 634. Published online 2022 Feb 2. doi: 10.1038/s41467-022-28167-1

Correction in:: Nat Commun. 2022; 13: 2419.

PMCID:: PMC8810832

Abstract Article PDF–2.3M

Select item 109802634.

Cryo-EM structures of the human NaS1 and NaDC1 transporters revealed the elevator transport and allosteric regulation mechanism

Ximin Chi, Yiming Chen, Yaning Li, Lu Dai, Yuanyuan Zhang, Yaping Shen, Yun Chen, Tianhao Shi, Haonan Yang, Zilong Wang, Renhong Yan

Sci Adv. 2024 Mar 29; 10(13): eadl3685. Published online 2024 Mar 29. doi: 10.1126/sciadv.adl3685

PMCID:: PMC10980263

Abstract Article PDF–3.5M

Select item 50159475.

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases

Christina G. Tise, James A. Perry, Leslie E. Anforth, Mary A. Pavlovich, Joshua D. Backman, Kathleen A. Ryan, Joshua P. Lewis, Jeffrey R. O’Connell, Laura M. Yerges-Armstrong, Alan R. Shuldiner

G3 (Bethesda) 2016 Sep; 6(9): 2909–2918. Published online 2016 Jul 13. doi: 10.1534/g3.116.032979

PMCID:: PMC5015947

Abstract Article PDF–1.4M

Select item 18662686.

Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters

Ana M. Pajor

Pflugers Arch. Author manuscript; available in PMC 2007 May 10.

Published in final edited form as: Pflugers Arch. 2006 Feb; 451(5): 597–605. Published online 2005 Oct 7. doi: 10.1007/s00424-005-1487-2

PMCID:: PMC1866268

Abstract Article PDF–335K

Select item 29347397.

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

E Maestrini, A T Pagnamenta, J A Lamb, E Bacchelli, N H Sykes, I Sousa, C Toma, G Barnby, H Butler, L Winchester, T S Scerri, F Minopoli, J Reichert, G Cai, J D Buxbaum, O Korvatska, G D Schellenberg, G Dawson, A de Bildt, R B Minderaa, E J Mulder, A P Morris, A J Bailey, A P Monaco, IMGSAC

Mol Psychiatry. 2010 Sep; 15(9): 954–968. Published online 2009 Apr 28. doi: 10.1038/mp.2009.34

PMCID:: PMC2934739

Abstract Article PDF–376K

Select item 24933778.

Monitoring Protein-Protein Interactions between the Mammalian Integral Membrane Transporters and PDZ-interacting Partners Using a Modified Split-ubiquitin Membrane Yeast Two-hybrid System

Serge M. Gisler, Saranya Kittanakom, Daniel Fuster, Victoria Wong, Mia Bertic, Tamara Radanovic, Randy A. Hall, Heini Murer, Jürg Biber, Daniel Markovich, Orson W. Moe, Igor Stagljar

Mol Cell Proteomics. 2008 Jul; 7(7): 1362–1377. doi: 10.1074/mcp.M800079-MCP200

PMCID:: PMC2493377

Abstract Article PDF–1.2M

Select item 76571799.

Genome‐wide association study of chemotherapeutic agent‐induced severe neutropenia/leucopenia for patients in Biobank Japan

Siew‐Kee Low, Suyoun Chung, Atsushi Takahashi, Hitoshi Zembutsu, Taisei Mushiroda, Michiaki Kubo, Yusuke Nakamura

Cancer Sci. 2013 Aug; 104(8): 1074–1082. Published online 2013 Jun 10. doi: 10.1111/cas.12186

PMCID:: PMC7657179

Abstract Article PDF–225K

Select item 288296110.

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

Abstract Article PDF–1.2M

Select item 816503011.

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

Abstract Article PDF–2.2M

Select item 13924112.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805913.

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

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