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Items: 1 to 20 of 36

1.
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
Gonzalo Hernández, Xenia Ferrer-Cortès, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Muñoz Torres, Ines Hernandez Rodríguez, Maria Àngels Ruiz Mínguez, Nicholas J. Kelleher, Sara Pelucchi, Alberto Piperno, Esther Plensa Alberca, Georgina Gener Ricós, Eloi Cañamero Giró, Santiago Pérez-Montero, Cristian Tornador, Jordi Villà-Freixa, Mayka Sánchez
Genes (Basel) 2021 Dec; 12(12): 1980. Published online 2021 Dec 13. doi: 10.3390/genes12121980
PMCID:
PMC8702017
AbstractArticlePDF–7.4M
2.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
3.
The functional role of hemojuvelin in acute ischemic stroke
Guang-Huar Young, Sung-Chun Tang, Vin-Cent Wu, Kuo-Chuan Wang, Jing-Yi Nong, Po-Yuan Huang, Chaur-Jong Hu, Hung-Yi Chiou, Jiann-Shing Jeng, Chung Y Hsu
J Cereb Blood Flow Metab. 2020 Jun; 40(6): 1316–1327. Published online 2019 Jul 15. doi: 10.1177/0271678X19861448
PMCID:
PMC7238368
AbstractArticlePDF–1.3M
4.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
5.
Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age‐related muscle wasting
Peng Zhang, Jian He, Fei Wang, Jing Gong, Lu Wang, Qian Wu, Wenjiong Li, Hongju Liu, Jing Wang, Kunshan Zhang, Mao Li, Xusheng Huang, Chuanqiang Pu, Ying Li, Fengjie Jiang, Fudi Wang, Junxia Min, Xiaoping Chen
J Cachexia Sarcopenia Muscle. 2019 Jun; 10(3): 557–573. Published online 2019 Mar 18. doi: 10.1002/jcsm.12414
PMCID:
PMC6596404
AbstractArticlePDF–3.2M
6.
Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery
Sheng-Wen Ko, Nai-Hsin Chi, Che-Hsiung Wu, Tao-Min Huang, Shih-Chieh Jeff Chueh, Chih-Hsien Wang, Jui-Hsiang Lin, Wei-Jie Wang, Jui-Tsung Ting, Huang-Ming Chang, Rory Connolly, Chien-Heng Lai, Li-Jung Tseng, Vin-Cent Wu, Tzong-Shinn Chu
Sci Rep. 2018; 8: 1938. Published online 2018 Jan 31. doi: 10.1038/s41598-018-20212-8
PMCID:
PMC5792584
AbstractArticlePDF–2.5M
7.
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2
Alessia Pagani, Silvia Colucci, Renata Bocciardi, Marta Bertamino, Carlo Dufour, Roberto Ravazzolo, Laura Silvestri, Clara Camaschella
Blood. 2017 Jun 22; 129(25): 3392–3395. doi: 10.1182/blood-2017-03-773481
PMCID:
PMC5659816
Article
8.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
AbstractArticle
9.
Identification of TMPRSS6 cleavage sites of hemojuvelin
Marco Rausa, Michela Ghitti, Alessia Pagani, Antonella Nai, Alessandro Campanella, Giovanna Musco, Clara Camaschella, Laura Silvestri
J Cell Mol Med. 2015 Apr; 19(4): 879–888. Published online 2015 Feb 22. doi: 10.1111/jcmm.12462
PMCID:
PMC4395201
AbstractArticlePDF–952K
10.
Expression of Human Hemojuvelin (HJV) Is Tightly Regulated by Two Upstream Open Reading Frames in HJV mRNA That Respond to Iron Overload in Hepatic Cells
Cláudia Onofre, Filipa Tomé, Cristina Barbosa, Ana Luísa Silva, Luísa Romão
Mol Cell Biol. 2015 Apr; 35(8): 1376–1389. Prepublished online 2015 Feb 9. Published online 2015 Mar 24. doi: 10.1128/MCB.01462-14
PMCID:
PMC4372701
AbstractArticlePDF–2.0M
11.
Hemojuvelin Modulates Iron Stress During Acute Kidney Injury: Improved by Furin Inhibitor
Guang-Huar Young, Tao-Min Huang, Che-Hsiung Wu, Chun-Fu Lai, Chun-Cheng Hou, Kang-Yung Peng, Chan-Jung Liang, Shuei-Liong Lin, Shih-Chung Chang, Pi-Ru Tsai, Kwan-Dun Wu, Vin-Cent Wu, Wen-Je Ko
Antioxid Redox Signal. 2014 Mar 10; 20(8): 1181–1194. doi: 10.1089/ars.2013.5366
PMCID:
PMC3934545
AbstractArticlePDF–2.0M
12.
Two-marker association tests yield new disease associations for coronary artery disease and hypertension
Thomas P. Slavin, Tao Feng, Audrey Schnell, Xiaofeng Zhu, Robert C. Elston
Hum Genet. Author manuscript; available in PMC 2013 Feb 20.
Published in final edited form as: Hum Genet. 2011 Dec; 130(6): 725–733. Published online 2011 May 28. doi: 10.1007/s00439-011-1009-6
PMCID:
PMC3576836
AbstractArticlePDF–1.9M
13.
Neogenin Interacts with Matriptase-2 to Facilitate Hemojuvelin Cleavage
Caroline A. Enns, Riffat Ahmed, An-Sheng Zhang
J Biol Chem. 2012 Oct 12; 287(42): 35104–35117. Published online 2012 Aug 14. doi: 10.1074/jbc.M112.363937
PMCID:
PMC3471701
AbstractArticlePDF–1.9M
14.
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
AbstractArticlePDF–1.0M
15.
Matriptase-2- and Proprotein Convertase-cleaved Forms of Hemojuvelin Have Different Roles in the Down-regulation of Hepcidin Expression
Julia E. Maxson, Juxing Chen, Caroline A. Enns, An-Sheng Zhang
J Biol Chem. 2010 Dec 10; 285(50): 39021–39028. Published online 2010 Oct 11. doi: 10.1074/jbc.M110.183160
PMCID:
PMC2998150
AbstractArticlePDF–3.0M
16.
Immunoassay for human serum hemojuvelin
Carole Brasse-Lagnel, Maura Poli, Céline Lesueur, Bernard Grandchamp, Alain Lavoinne, Carole Beaumont, Soumeya Bekri
Haematologica. 2010 Dec; 95(12): 2031–2037. Published online 2010 Aug 16. doi: 10.3324/haematol.2010.022129
PMCID:
PMC2995560
AbstractArticlePDF–1.0M
17.
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
Sandro Altamura, Flavia D'Alessio, Barbara Selle, Martina U. Muckenthaler
Biochem J. 2010 Nov 1; 431(Pt 3): 363–371. Prepublished online 2010 Aug 12. Published online 2010 Oct 11. doi: 10.1042/BJ20100668
PMCID:
PMC2958558
AbstractArticlePDF–804K
18.
Genome-wide searching of rare genetic variants in WTCCC data
Tao Feng, Xiaofeng Zhu
Hum Genet. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Hum Genet. 2010 Sep; 128(3): 269–280. Published online 2010 Jun 13. doi: 10.1007/s00439-010-0849-9
PMCID:
PMC2922446
AbstractArticlePDF–422K
19.
Soluble Repulsive Guidance Molecule c/Hemojuvelin Is a Broad Spectrum Bone Morphogenetic Protein (BMP) Antagonist and Inhibits both BMP2- and BMP6-mediated Signaling and Gene Expression
Mahta Nili, Ujwal Shinde, Peter Rotwein
J Biol Chem. 2010 Aug 6; 285(32): 24783–24792. Published online 2010 Jun 8. doi: 10.1074/jbc.M110.130286
PMCID:
PMC2915714
AbstractArticlePDF–3.0M
20.
Neogenin interacts with hemojuvelin through its two membrane-proximal fibronectin type III domains
Fan Yang, Anthony P. West, Jr., George P. Allendorph, Senyon Choe, Pamela J. Bjorkman
Biochemistry. Author manuscript; available in PMC 2010 Feb 10.
Published in final edited form as: Biochemistry. 2008 Apr 8; 47(14): 4237. Published online 2008 Mar 13. doi: 10.1021/bi800036h
PMCID:
PMC2819367
AbstractArticlePDF–2.4M

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