PMC Links for Gene (Select 10560) - PMC

Prapaporn Jungtrakoon, Jun Shirakawa, Patinut Buranasupkajorn, Manoj K. Gupta, Dario F. De Jesus, Marcus G. Pezzolesi, Aussara Panya, Timothy Hastings, Chutima Chanprasert, Christine Mendonca, Rohit N. Kulkarni, Alessandro Doria

Diabetes. 2019 May; 68(5): 1084–1093. Published online 2019 Mar 4. doi: 10.2337/db17-0821

PMCID:: PMC6477897

Abstract Article PDF–1.6M

Select item 38145364.

Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases

Nosrat Ghaemi, Martha Ghahraman, Mohammad Reza Abbaszadegan, Alireza Baradaran-Heravi, Rahim Vakili

J Clin Res Pediatr Endocrinol. 2013 Sep; 5(3): 199–201. Published online 2013 Sep 18. doi: 10.4274/Jcrpe.969

PMCID:: PMC3814536

Abstract Article PDF–569K

Select item 37254135.

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

Aria Setoodeh, Amirreza Haghighi, Nasrollah Saleh-Gohari, Sian Ellard, Alireza Haghighi

Gene. 2013 May 1; 519(2): 295–297. doi: 10.1016/j.gene.2013.02.008

PMCID:: PMC3725413

Abstract Article PDF–195K

Select item 17346856.

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

C. Scharfe, M. Hauschild, T. Klopstock, A. Janssen, P. Heidemann, T. Meitinger, M. Jaksch

J Med Genet. 2000 Sep; 37(9): 669–673. doi: 10.1136/jmg.37.9.669

PMCID:: PMC1734685

Summary PDF–155K

Select item 17160917.

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

E J Neufeld, H Mandel, T Raz, R Szargel, C N Yandava, A Stagg, S Fauré, T Barrett, N Buist, N Cohen

Am J Hum Genet. 1997 Dec; 61(6): 1335–1341. doi: 10.1086/301642

PMCID:: PMC1716091

Summary Page Browse PDF–1.1M

Select item 78638928.

pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates

Takahiro Yamashiro, Tomoya Yasujima, Hamid M. Said, Hiroaki Yuasa

J Biol Chem. 2020 Dec 11; 295(50): 16998–17008. Published online 2020 Oct 2. doi: 10.1074/jbc.RA120.013610

PMCID:: PMC7863892

Abstract Article PDF–1.8M

Select item 75092609.

Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells

Kalidas Ramamoorthy, Kasin Yadunandam Anandam, Tomoya Yasujima, Padmanabhan Srinivasan, Hamid M. Said

Am J Physiol Gastrointest Liver Physiol. 2020 Sep 1; 319(3): G323–G332. Published online 2020 Jul 20. doi: 10.1152/ajpgi.00178.2020

PMCID:: PMC7509260

Abstract Article

Select item 353220610.

Glucose-Induced Down Regulation of Thiamine Transporters in the Kidney Proximal Tubular Epithelium Produces Thiamine Insufficiency in Diabetes

James R. Larkin, Fang Zhang, Lisa Godfrey, Guerman Molostvov, Daniel Zehnder, Naila Rabbani, Paul J. Thornalley

PLoS One. 2012; 7(12): e53175. Published online 2012 Dec 28. doi: 10.1371/journal.pone.0053175

PMCID:: PMC3532206

Abstract Article PDF–444K

Select item 207527511.

Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation

Veedamali S Subramanian, Zainab M Mohammed, Andres Molina, Jonathan S Marchant, Nosratola D Vaziri, Hamid M Said

J Physiol. 2007 Jul 1; 582(Pt 1): 73–85. Published online 2007 Apr 26. doi: 10.1113/jphysiol.2007.128843

PMCID:: PMC2075275

Abstract Article PDF–445K

Select item 122305712.

Restoration of high-level transport activity by human reduced folate carrier/ThTr1 thiamine transporter chimaeras: role of the transmembrane domain 6/7 linker region in reduced folate carrier function.

Xiang Y Liu, Teah L Witt, Larry H Matherly

Biochem J. 2003 Jan 1; 369(Pt 1): 31–37. doi: 10.1042/BJ20020419

PMCID:: PMC1223057

Summary PDF–202K

Select item 929378213.

Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3

Kohei Miyake, Tomoya Yasujima, Syunsuke Takahashi, Takahiro Yamashiro, Hiroaki Yuasa

J Biol Chem. 2022 Aug; 298(8): 102161. Published online 2022 Jun 17. doi: 10.1016/j.jbc.2022.102161

PMCID:: PMC9293782

Abstract Article PDF–2.1M

Select item 734919614.

3’-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women

Tae-Keun Ahn, Jung Oh Kim, Hui Jeong An, Han Sung Park, Un Yong Choi, Seil Sohn, Kyoung-Tae Kim, Nam Keun Kim, In-Bo Han

Genes (Basel) 2020 Jun; 11(6): 612. Published online 2020 Jun 2. doi: 10.3390/genes11060612

PMCID:: PMC7349196

Abstract Article PDF–1.9M

Select item 399220415.

Genetic implication of a novel thiamine transporter in human hypertension

Kuixing Zhang, Matthew J. Huentelman, Fangwen Rao, Eric I. Sun, Jason J. Corneveaux, Andrew J. Schork, Zhiyun Wei, Jill Waalen, Jose Pablo Miramontes-Gonzalez, C. Makena Hightower, Adam X. Maihofer, Manjula Mahata, Tomi Pastinen, Georg B. Ehret, Nicholas J. Schork, Eleazar Eskin, Caroline M. Nievergelt, Milton H. Saier, Jr, Daniel T. O'Connor

J Am Coll Cardiol. Author manuscript; available in PMC 2015 Apr 22.

Published in final edited form as: J Am Coll Cardiol. 2014 Apr 22; 63(15): 1542–1555. Published online 2014 Feb 5. doi: 10.1016/j.jacc.2014.01.007

PMCID:: PMC3992204

Abstract Article PDF–3.5M

Select item 322032816.

Tspan-1 interacts with the thiamine transporter-1 in human intestinal epithelial cells and modulates its stability

Svetlana M. Nabokina, Sundar Rajan Senthilkumar, Hamid M. Said

Am J Physiol Gastrointest Liver Physiol. 2011 Nov; 301(5): G808–G813. Published online 2011 Aug 11. doi: 10.1152/ajpgi.00269.2011

PMCID:: PMC3220328

Abstract Article

Select item 271175417.

Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations

Lisa Mee, Svetlana M. Nabokina, V. Thillai Sekar, Veedamali S. Subramanian, Kathrin Maedler, Hamid M. Said

Am J Physiol Gastrointest Liver Physiol. 2009 Jul; 297(1): G197–G206. Published online 2009 May 7. doi: 10.1152/ajpgi.00092.2009

PMCID:: PMC2711754

Abstract Article

Select item 284391118.

Systematic Molecular Genetic Analysis of Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations

Anke K. Bergmann, Dean R. Campagna, Erin M. McLoughlin, Suneet Agarwal, Mark D. Fleming, Sylvia S. Bottomley, Ellis J. Neufeld

Pediatr Blood Cancer. Author manuscript; available in PMC 2010 Mar 22.

Published in final edited form as: Pediatr Blood Cancer. 2010 Feb; 54(2): 273–278. doi: 10.1002/pbc.22244

PMCID:: PMC2843911

Abstract Article PDF–420K

Select item 318133519.

Genetics of Venous Thrombosis: Insights from a New Genome Wide Association Study

Marine Germain, Noémie Saut, Nicolas Greliche, Christian Dina, Jean-Charles Lambert, Claire Perret, William Cohen, Tiphaine Oudot-Mellakh, Guillemette Antoni, Marie-Christine Alessi, Diana Zelenika, François Cambien, Laurence Tiret, Marion Bertrand, Anne-Marie Dupuy, Luc Letenneur, Mark Lathrop, Joseph Emmerich, Philippe Amouyel, David-Alexandre Trégouët, Pierre-Emmanuel Morange

PLoS One. 2011; 6(9): e25581. Published online 2011 Sep 27. doi: 10.1371/journal.pone.0025581

PMCID:: PMC3181335

Abstract Article PDF–721K

Select item 412452120.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Dan E. Arking, Sara L. Pulit, Lia Crotti, Pim van der Harst, Patricia B. Munroe, Tamara T. Koopmann, Nona Sotoodehnia, Elizabeth J. Rossin, Michael Morley, Xinchen Wang, Andrew D. Johnson, Alicia Lundby, Daníel F. Gudbjartsson, Peter A. Noseworthy, Mark Eijgelsheim, Yuki Bradford, Kirill V. Tarasov, Marcus Dörr, Martina Müller-Nurasyid, Annukka M. Lahtinen, Ilja M. Nolte, Albert Vernon Smith, Joshua C. Bis, Aaron Isaacs, Stephen J. Newhouse, Daniel S. Evans, Wendy S. Post, Daryl Waggott, Leo-Pekka Lyytikäinen, Andrew A. Hicks, Lewin Eisele, David Ellinghaus, Caroline Hayward, Pau Navarro, Sheila Ulivi, Toshiko Tanaka, David J. Tester, Stéphanie Chatel, Stefan Gustafsson, Meena Kumari, Richard W. Morris, Åsa T. Naluai, Sandosh Padmanabhan, Alexander Kluttig, Bernhard Strohmer, Andrie G. Panayiotou, Maria Torres, Michael Knoflach, Jaroslav A. Hubacek, Kamil Slowikowski, Soumya Raychaudhuri, Runjun D. Kumar, Tamara B. Harris, Lenore J. Launer, Alan R. Shuldiner, Alvaro Alonso, Joel S. Bader, Georg Ehret, Hailiang Huang, W.H. Linda Kao, James B. Strait, Peter W. Macfarlane, Morris Brown, Mark J. Caulfield, Nilesh J. Samani, Florian Kronenberg, Johann Willeit, CARe Consortium, COGENT Consortium, J. Gustav Smith, Karin H. Greiser, Henriette Meyer zu Schwabedissen, Karl Werdan, Massimo Carella, Leopoldo Zelante, Susan R. Heckbert, Bruce M. Psaty, Jerome I. Rotter, Ivana Kolcic, Ozren Polašek, Alan F. Wright, Maura Griffin, Mark J. Daly, DCCT/EDIC, David O. Arnar, Hilma Hólm, Unnur Thorsteinsdottir, eMERGE consortium, Joshua C. Denny, Dan M. Roden, Rebecca L. Zuvich, Valur Emilsson, Andrew S. Plump, Martin G. Larson, Christopher J. O'Donnell, Xiaoyan Yin, Marco Bobbo, Adamo P. D'Adamo, Annamaria Iorio, Gianfranco Sinagra, Angel Carracedo, Steven R. Cummings, Michael A. Nalls, Antti Jula, Kimmo K. Kontula, Annukka Marjamaa, Lasse Oikarinen, Markus Perola, Kimmo Porthan, Raimund Erbel, Per Hoffmann, Karl-Heinz Jöckel, Hagen Kälsch, Markus M. Nöthen, HRGEN consortium, Marcel den Hoed, Ruth J.F. Loos, Dag S. Thelle, Christian Gieger, Thomas Meitinger, Siegfried Perz, Annette Peters, Hanna Prucha, Moritz F. Sinner, Melanie Waldenberger, Rudolf A. de Boer, Lude Franke, Pieter A. van der Vleuten, Britt Maria Beckmann, Eimo Martens, Abdennasser Bardai, Nynke Hofman, Arthur A.M. Wilde, Elijah R. Behr, Chrysoula Dalageorgou, John R. Giudicessi, Argelia Medeiros-Domingo, Julien Barc, Florence Kyndt, Vincent Probst, Alice Ghidoni, Roberto Insolia, Robert M. Hamilton, Stephen W. Scherer, Jeffrey Brandimarto, Kenneth Margulies, Christine E. Moravec, Greco M. Fabiola Del, Christian Fuchsberger, Jeffrey R. O'Connell, Wai K. Lee, Graham C.M. Watt, Harry Campbell, Sarah H. Wild, Nour E. El Mokhtari, Norbert Frey, Folkert W. Asselbergs, Irene Mateo Leach, Gerjan Navis, Maarten P. van den Berg, Dirk J. van Veldhuisen, Manolis Kellis, Bouwe P. Krijthe, Oscar H. Franco, Albert Hofman, Jan A. Kors, André G. Uitterlinden, Jacqueline C.M. Witteman, Lyudmyla Kedenko, Claudia Lamina, Ben A. Oostra, Gonçalo R. Abecasis, Edward G. Lakatta, Antonella Mulas, Marco Orrú, David Schlessinger, Manuela Uda, Marcello R.P. Markus, Uwe Völker, Harold Snieder, Timothy D. Spector, Johan Ärnlöv, Lars Lind, Johan Sundström, Ann-Christine Syvänen, Mika Kivimaki, Mika Kähönen, Nina Mononen, Olli T. Raitakari, Jorma S. Viikari, Vera Adamkova, Stefan Kiechl, Maria Brion, Andrew N. Nicolaides, Bernhard Paulweber, Johannes Haerting, Anna F. Dominiczak, Fredrik Nyberg, Peter H. Whincup, Aroon Hingorani, Jean-Jacques Schott, Connie R. Bezzina, Erik Ingelsson, Luigi Ferrucci, Paolo Gasparini, James F. Wilson, Igor Rudan, Andre Franke, Thomas W. Mühleisen, Peter P. Pramstaller, Terho J. Lehtimäki, Andrew D. Paterson, Afshin Parsa, Yongmei Liu, Cornelia van Duijn, David S. Siscovick, Vilmundur Gudnason, Yalda Jamshidi, Veikko Salomaa, Stephan B. Felix, Serena Sanna, Marylyn D. Ritchie, Bruno H. Stricker, Kari Stefansson, Laurie A. Boyer, Thomas P. Cappola, Jesper V. Olsen, Kasper Lage, Peter J. Schwartz, Stefan Kääb, Aravinda Chakravarti, Michael J. Ackerman, Arne Pfeufer, Paul I.W. de Bakker, Christopher Newton-Cheh

Nat Genet. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nat Genet. 2014 Aug; 46(8): 826–836. Published online 2014 Jun 22. doi: 10.1038/ng.3014

PMCID:: PMC4124521

Abstract Article PDF–970K

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