PMC Links for Gene (Select 3098) - PMC

Matthew N. Wakeling, Nick D. L. Owens, Jessica R. Hopkinson, Matthew B. Johnson, Jayne A.L. Houghton, Antonia Dastamani, Christine S. Flaxman, Rebecca C. Wyatt, Thomas I. Hewat, Jasmin J. Hopkins, Thomas W. Laver, Rachel van Heugten, Michael N. Weedon, Elisa De Franco, Kashyap A. Patel, Sian Ellard, Noel G. Morgan, Edmund Cheesman, Indraneel Banerjee, Andrew T. Hattersley, Mark J. Dunne, International Congenital Hyperinsulinism Consortium, Sarah J. Richardson, Sarah E. Flanagan

Nat Genet. Author manuscript; available in PMC 2023 Jan 9.

Published in final edited form as: Nat Genet. 2022 Nov; 54(11): 1615–1620. Published online 2022 Nov 4. doi: 10.1038/s41588-022-01204-x

PMCID:: PMC7614032

Abstract Article PDF–5.2M

Select item 67774644.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Volkan Okur, Megan T. Cho, Richard van Wijk, Brigitte van Oirschot, Jonathan Picker, Stephanie A. Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J. Hulick, Holley May, Eric Pierce, Emily Place, Kinga Bujakowska, Aida Telegrafi, Ganka Douglas, Kristin G. Monaghan, Amber Begtrup, Ashley Wilson, Kyle Retterer, Kwame Anyane-Yeboa, Wendy K. Chung

Eur J Hum Genet. 2019 Jul; 27(7): 1081–1089. Published online 2019 Feb 18. doi: 10.1038/s41431-019-0366-9

PMCID:: PMC6777464

Abstract Article PDF–1.1M

Select item 55391525.

The phenotypic variability of HK1-associated retinal dystrophy

Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen

Sci Rep. 2017; 7: 7051. Published online 2017 Aug 1. doi: 10.1038/s41598-017-07629-3

PMCID:: PMC5539152

Abstract Article PDF–1.2M

Select item 49069666.

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Stephen P. Daiger, Lori S. Sullivan, Sara J. Bowne, Daniel C. Koboldt, Susan H. Blanton, Dianna K. Wheaton, Cheryl E. Avery, Elizabeth D. Cadena, Robert K. Koenekoop, Robert S. Fulton, Richard K. Wilson, George M. Weinstock, Richard A. Lewis, David G. Birch

Adv Exp Med Biol. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Adv Exp Med Biol. 2016; 854: 193–200. doi: 10.1007/978-3-319-17121-0_26

PMCID:: PMC4906966

Abstract Article PDF–241K

Select item 42245787.

A Missense Mutation in HK1 Leads to Autosomal Dominant Retinitis Pigmentosa

Feng Wang, Yandong Wang, Bin Zhang, Li Zhao, Vera Lyubasyuk, Keqing Wang, Mingchu Xu, Yumei Li, Frances Wu, Cindy Wen, Paul S. Bernstein, Danni Lin, Susanna Zhu, Hui Wang, Kang Zhang, Rui Chen

Invest Ophthalmol Vis Sci. 2014 Nov; 55(11): 7159–7164. Published online 2014 Nov 7. doi: 10.1167/iovs.14-15520

PMCID:: PMC4224578

Abstract Article PDF–527K

Select item 41515008.

Abnormal partitioning of hexokinase 1 suggests disruption of a glutamate transport protein complex in schizophrenia

Dan Shan, Daniel Mount, Stephen Moore, Vahram Haroutunian, James H. Meador-Woodruff, Robert E. McCullumsmith

Schizophr Res. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Schizophr Res. 2014 Apr; 154(0): 1–13. Published online 2014 Feb 21. doi: 10.1016/j.schres.2014.01.028

PMCID:: PMC4151500

Abstract Article PDF–1.5M

Select item 38767329.

Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q

Sara E. Pinney, Karthik Ganapathy, Jonathan Bradfield, David Stokes, Ariella Sasson, Katarzyna Mackiewicz, Kara Boodhansingh, Nkecha Hughes, Susan Becker, Stephanie Givler, Courtney Macmullen, Dimitrios Monos, Arupa Ganguly, Hakon Hakonarson, Charles A. Stanley

Horm Res Paediatr. Author manuscript; available in PMC 2014 Jul 13.

Published in final edited form as: Horm Res Paediatr. 2013; 80(1): 10.1159/000351943. Published online 2013 Jul 13. doi: 10.1159/000351943

PMCID:: PMC3876732

Abstract Article PDF–422K

Select item 316193310.

Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes

Anette P Gjesing, Aneta A Nielsen, Ivan Brandslund, Cramer Christensen, Anneli Sandbæk, Torben Jørgensen, Daniel Witte, Amélie Bonnefond, Phillippe Froguel, Torben Hansen, Oluf Pedersen

BMC Med Genet. 2011; 12: 99. Published online 2011 Jul 25. doi: 10.1186/1471-2350-12-99

PMCID:: PMC3161933

Abstract Article PDF–283K

Select item 273871111.

First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis

Karen M.K. de Vooght, Wouter W. van Solinge, Annet C. van Wesel, Sabina Kersting, Richard van Wijk

Haematologica. 2009 Sep; 94(9): 1203–1210. Published online 2009 Jul 16. doi: 10.3324/haematol.2008.002881

PMCID:: PMC2738711

Abstract Article PDF–238K

Select item 128752612.

A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23

Tamara Rogers, David Chandler, Dora Angelicheva, P. K. Thomas, Bryan Youl, Ivailo Tournev, Velina Gergelcheva, Luba Kalaydjieva

Am J Hum Genet. 2000 Sep; 67(3): 664–671. Published online 2000 Jul 27. doi: 10.1086/303053

PMCID:: PMC1287526

Abstract Article PDF–299K

Select item 121939513.

Structure of the human hexokinase type I gene and nucleotide sequence of the 5' flanking region.

A Ruzzo, F Andreoni, M Magnani

Biochem J. 1998 Apr 15; 331(Pt 2): 607–613. doi: 10.1042/bj3310607

PMCID:: PMC1219395

Summary PDF–350K

Select item 113276514.

A recombinant human 'mini'-hexokinase is catalytically active and regulated by hexose 6-phosphates.

M Magnani, M Bianchi, A Casabianca, V Stocchi, A Daniele, F Altruda, M Ferrone, L Silengo

Biochem J. 1992 Jul 1; 285(Pt 1): 193–199. doi: 10.1042/bj2850193

PMCID:: PMC1132765

Summary Page Browse PDF–1.3M

Select item 1129000815.

MiR-34a-HK1 signal axis retards bone marrow mesenchymal stem cell senescence via ameliorating glycolytic metabolism

Yanan Sun, Chang Zhang, Qianhui Ma, Xiao Yu, Xingyu Gao, Haiying Zhang, Yingai Shi, Yan Li, Xu He

Stem Cell Res Ther. 2024; 15: 238. Published online 2024 Jul 30. doi: 10.1186/s13287-024-03857-3

PMCID:: PMC11290008

Abstract Article PDF–7.5M

Select item 1068458816.

Proteomic analyses identify HK1 and ATP5A to be overexpressed in distant metastases of lung adenocarcinomas compared to matched primary tumors

Helen Pasternack, Mirjam Polzer, Timo Gemoll, Christiane Kümpers, Thorben Sauer, Pamela Lazar-Karsten, Sofie Hinrichs, Sabine Bohnet, Sven Perner, Franz Friedrich Dressler, Jutta Kirfel

Sci Rep. 2023; 13: 20948. Published online 2023 Nov 28. doi: 10.1038/s41598-023-47767-5

PMCID:: PMC10684588

Abstract Article PDF–5.6M

Select item 1065472217.

Hemokinin-1 is a mediator of chronic restraint stress-induced pain

Éva Borbély, Angéla Kecskés, József Kun, Eszter Kepe, Barbara Fülöp, Katalin Kovács-Rozmer, Bálint Scheich, Éva Renner, Miklós Palkovits, Zsuzsanna Helyes

Sci Rep. 2023; 13: 20030. Published online 2023 Nov 16. doi: 10.1038/s41598-023-46402-7

PMCID:: PMC10654722

Abstract Article PDF–3.0M

Select item 1057341818.

Intermittent Hypoxia Promotes TAM-Induced Glycolysis in Laryngeal Cancer Cells via Regulation of HK1 Expression through Activation of ZBTB10

Minlan Yang, Weisong Cai, Zehua Lin, Aikebaier Tuohuti, Xiong Chen

Int J Mol Sci. 2023 Oct; 24(19): 14808. Published online 2023 Sep 30. doi: 10.3390/ijms241914808

PMCID:: PMC10573418

Abstract Article PDF–5.4M

Select item 692359219.

KRAS4A Directly Regulates Hexokinase 1

Caroline R. Amendola, James P. Mahaffey, Seth J. Parker, Ian M. Ahearn, Wei-Ching Chen, Mo Zhou, Helen Court, Jie Shi, Sebastian L. Mendoza, Michael Morten, Eli Rothenberg, Eyal Gottlieb, Youssef Z. Wadghiri, Richard Possemato, Stevan R. Hubbard, Allan Balmain, Alec Kimmelman, Mark R. Philips

Nature. Author manuscript; available in PMC 2020 Jun 11.

Published in final edited form as: Nature. 2019 Dec; 576(7787): 482–486. Published online 2019 Dec 11. doi: 10.1038/s41586-019-1832-9

PMCID:: PMC6923592

Abstract Article PDF–4.4M

Select item 646736720.

Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep

Brian E. Cade, Han Chen, Adrienne M. Stilp, Tin Louie, Sonia Ancoli-Israel, Raanan Arens, Richard Barfield, Jennifer E. Below, Jianwen Cai, Matthew P. Conomos, Daniel S. Evans, Alexis C. Frazier-Wood, Sina A. Gharib, Kevin J. Gleason, Daniel J. Gottlieb, David R. Hillman, W. Craig Johnson, David J. Lederer, Jiwon Lee, Jose S. Loredo, Hao Mei, Sutapa Mukherjee, Sanjay R. Patel, Wendy S. Post, Shaun M. Purcell, Alberto R. Ramos, Kathryn J. Reid, Ken Rice, Neomi A. Shah, Tamar Sofer, Kent D. Taylor, Timothy A. Thornton, Heming Wang, Kristine Yaffe, Phyllis C. Zee, Craig L. Hanis, Lyle J. Palmer, Jerome I. Rotter, Katie L. Stone, Gregory J. Tranah, James G. Wilson, Shamil R. Sunyaev, Cathy C. Laurie, Xiaofeng Zhu, Richa Saxena, Xihong Lin, Susan Redline

PLoS Genet. 2019 Apr; 15(4): e1007739. Published online 2019 Apr 16. doi: 10.1371/journal.pgen.1007739

PMCID:: PMC6467367

Abstract Article PDF–1.5M

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