PMC Links for Gene (Select 1041) - PMC

R C Betz, Y A Lee, A Bygum, F Brandrup, A I Bernal, J Toribio, J I Alvarez, G M Kukuk, H H Ibsen, H B Rasmussen, T F Wienker, A Reis, P Propping, R Kruse, S Cichon, M M Nöthen

Am J Hum Genet. 2000 Jun; 66(6): 1979–1983. Published online 2000 May 2. doi: 10.1086/302934

PMCID:: PMC1378055

Summary PDF–404K

Select item 11964204.

Mapping of the Major Psoriasis-Susceptibility Locus (PSORS1) in a 70-Kb Interval around the Corneodesmosin Gene (CDSN)

Sandro Orrù, Erika Giuressi, Carlo Carcassi, Mirella Casula, Licinio Contu

Am J Hum Genet. 2005 Jan; 76(1): 164–171. Published online 2004 Nov 4. doi: 10.1086/426948

PMCID:: PMC1196420

Article PDF–106K

Select item 475905.

Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation.

Y Zhou, D D Chaplin

Proc Natl Acad Sci U S A. 1993 Oct 15; 90(20): 9470–9474. doi: 10.1073/pnas.90.20.9470

PMCID:: PMC47590

Summary Page Browse PDF–1.4M

Select item 98719586.

A core epitope targeting antibody of SARS-CoV-2

Simeng Zhao, Fengjiang Liu, Shizhen Qiu, Qiaoshuai Lan, Yiran Wu, Wei Xu, Junzi Ke, Jie Yang, Xiaoyan Liu, Kun Wang, Hangtian Guo, Shuai Xia, Fangfang Zhang, Jiabei Wang, Xiaowen Hu, Lu Lu, Shibo Jiang, Suwen Zhao, Lianxin Liu, Youhua Xie, Xiuna Yang, Haopeng Wang, Guisheng Zhong

Protein Cell. 2023 Jan; 14(1): 74–78. Published online 2022 Oct 26. doi: 10.1093/procel/pwac042

PMCID:: PMC9871958

Article PDF–1.4M

Select item 29177217.

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

Vinzenz Oji, Katja-Martina Eckl, Karin Aufenvenne, Marc Nätebus, Tatjana Tarinski, Katharina Ackermann, Natalia Seller, Dieter Metze, Gudrun Nürnberg, Regina Fölster-Holst, Monika Schäfer-Korting, Ingrid Hausser, Heiko Traupe, Hans Christian Hennies

Am J Hum Genet. 2010 Aug 13; 87(2): 274–281. doi: 10.1016/j.ajhg.2010.07.005

PMCID:: PMC2917721

Article PDF–967K

Select item 14740318.

Sequence and Haplotype Analysis Supports HLA-C as the Psoriasis Susceptibility 1 Gene

Rajan P. Nair, Philip E. Stuart, Ioana Nistor, Ravi Hiremagalore, Nicholas V. C. Chia, Stefan Jenisch, Michael Weichenthal, Gonçalo R. Abecasis, Henry W. Lim, Enno Christophers, John J. Voorhees, James T. Elder

Am J Hum Genet. 2006 May; 78(5): 827–851. Published online 2006 Mar 31. doi: 10.1086/503821

PMCID:: PMC1474031

Article PDF–1.3M

Select item 96395009.

Pathogen-host adhesion between SARS-CoV-2 spike proteins from different variants and human ACE2 studied at single-molecule and single-cell levels

Xiaoxu Zhang, Bixia Hong, Peng Wei, Pengfei Pei, Haifeng Xu, Long Chen, Yigang Tong, Jialin Chen, Shi-Zhong Luo, Huahao Fan, Chengzhi He

Emerg Microbes Infect. 2022; 11(1): 2658–2669. Published online 2022 Nov 4. doi: 10.1080/22221751.2022.2128887

PMCID:: PMC9639500

Article PDF–3.0M

Select item 861137710.

Effect of natural mutations of SARS-CoV-2 on spike structure, conformation, and antigenicity

Sophie M.-C. Gobeil, Katarzyna Janowska, Shana McDowell, Katayoun Mansouri, Robert Parks, Victoria Stalls, Megan F. Kopp, Kartik Manne, Dapeng Li, Kevin Wiehe, Kevin O. Saunders, Robert J. Edwards, Bette Korber, Barton F. Haynes, Rory Henderson, Priyamvada Acharya

Science. 2021 Aug 6; 373(6555): eabi6226. Published online 2021 Aug 6. doi: 10.1126/science.abi6226

PMCID:: PMC8611377

Article PDF–15M

Select item 606104411.

HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis

Andrzej Wiśniewski, Łukasz Matusiak, Aneta Szczerkowska-Dobosz, Izabela Nowak, Piotr Kuśnierczyk

Mol Genet Genomics. 2018; 293(4): 957–966. Published online 2018 Mar 27. doi: 10.1007/s00438-018-1435-4

PMCID:: PMC6061044

Article PDF–1.0M

Select item 226541312.

Fine Mapping of the Psoriasis Susceptibility Locus PSORS1 Supports HLA-C as the Susceptibility Gene in the Han Chinese Population

Xing Fan, Sen Yang, Wei Huang, Zhi-Min Wang, Liang-Dan Sun, Yan-Hua Liang, Min Gao, Yue-Qing Ren, Kai-Yue Zhang, Wen-Hui Du, Yu-Jun Shen, Jian-Jun Liu, Xue-Jun Zhang

PLoS Genet. 2008 Mar; 4(3): e1000038. Published online 2008 Mar 21. doi: 10.1371/journal.pgen.1000038

PMCID:: PMC2265413

Article PDF–197K

Select item 544495613.

Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

Elizabeth J. Leslie, Jenna C. Carlson, John R. Shaffer, Carmen J. Buxó, Eduardo E. Castilla, Kaare Christensen, Frederic W.B. Deleyiannis, L. Leigh Field, Jacqueline T. Hecht, Lina Moreno, Ieda M. Orioli, Carmencita Padilla, Alexandre R. Vieira, George L. Wehby, Eleanor Feingold, Seth M. Weinberg, Jeffrey C. Murray, Mary L. Marazita

Am J Med Genet A. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Am J Med Genet A. 2017 Jun; 173(6): 1531–1538. Published online 2017 Apr 19. doi: 10.1002/ajmg.a.38210

PMCID:: PMC5444956

Article PDF–209K

Select item 304634514.

mRNA-based skin identification for forensic applications

Mijke Visser, Dmitry Zubakov, Kaye N. Ballantyne, Manfred Kayser

Int J Legal Med. 2011; 125(2): 253–263. Published online 2011 Jan 11. doi: 10.1007/s00414-010-0545-2

PMCID:: PMC3046345

Article PDF–322K

Select item 52298515.

Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5^-/- mice

Tao Yang, Dongcai Liang, Peter J. Koch, Daniel Hohl, Farrah Kheradmand, Paul A. Overbeek

Genes Dev. 2004 Oct 1; 18(19): 2354–2358. doi: 10.1101/gad.1232104

PMCID:: PMC522985

Article PDF–162K

Select item 505335616.

Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk

Daniel Chubb, Niels Weinhold, Peter Broderick, Bowang Chen, David C Johnson, Asta Försti, Jayaram Vijayakrishnan, Gabriele Migliorini, Sara E Dobbins, Amy Holroyd, Dirk Hose, Brian A Walker, Faith E Davies, Walter A Gregory, Graham H Jackson, Julie A Irving, Guy Pratt, Chris Fegan, James AL Fenton, Kai Neben, Per Hoffmann, Markus M Nöthen, Thomas W Mühleisen, Lewin Eisele, Fiona M Ross, Christian Straka, Hermann Einsele, Christian Langer, Elisabeth Dörner, James M Allan, Anna Jauch, Gareth J Morgan, Kari Hemminki, Richard S Houlston, Hartmut Goldschmidt

Nat Genet. Author manuscript; available in PMC 2016 Oct 6.

Published in final edited form as: Nat Genet. 2013 Oct; 45(10): 1221–1225. Published online 2013 Aug 18. doi: 10.1038/ng.2733

PMCID:: PMC5053356

Article PDF–750K

Select item 569591317.

PTEN Regulates Glucose Transporter Recycling by Impairing SNX27 Retromer Assembly

Swapnil Rohidas Shinde, Subbareddy Maddika

Cell Rep. 2017 Nov 7; 21(6): 1655–1666. Published online 2017 Nov 7. doi: 10.1016/j.celrep.2017.10.053

PMCID:: PMC5695913

Article PDF–4.6M

Select item 312811418.

Multiple Loci Are Associated with White Blood Cell Phenotypes

Michael A. Nalls, David J. Couper, Toshiko Tanaka, Frank J. A. van Rooij, Ming-Huei Chen, Albert V. Smith, Daniela Toniolo, Neil A. Zakai, Qiong Yang, Andreas Greinacher, Andrew R. Wood, Melissa Garcia, Paolo Gasparini, Yongmei Liu, Thomas Lumley, Aaron R. Folsom, Alex P. Reiner, Christian Gieger, Vasiliki Lagou, Janine F. Felix, Henry Völzke, Natalia A. Gouskova, Alessandro Biffi, Angela Döring, Uwe Völker, Sean Chong, Kerri L. Wiggins, Augusto Rendon, Abbas Dehghan, Matt Moore, Kent Taylor, James G. Wilson, Guillaume Lettre, Albert Hofman, Joshua C. Bis, Nicola Pirastu, Caroline S. Fox, Christa Meisinger, Jennifer Sambrook, Sampath Arepalli, Matthias Nauck, Holger Prokisch, Jonathan Stephens, Nicole L. Glazer, L. Adrienne Cupples, Yukinori Okada, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Tatsuhiko Tsunoda, Toshihiro Tanaka, Michiaki Kubo, Yusuke Nakamura, Kazuhiko Yamamoto, Naoyuki Kamatani, Michael Stumvoll, Anke Tönjes, Inga Prokopenko, Thomas Illig, Kushang V. Patel, Stephen F. Garner, Brigitte Kuhnel, Massimo Mangino, Ben A. Oostra, Swee Lay Thein, Josef Coresh, H.-Erich Wichmann, Stephan Menzel, JingPing Lin, Giorgio Pistis, André G. Uitterlinden, Tim D. Spector, Alexander Teumer, Gudny Eiriksdottir, Vilmundur Gudnason, Stefania Bandinelli, Timothy M. Frayling, Aravinda Chakravarti, Cornelia M. van Duijn, David Melzer, Willem H. Ouwehand, Daniel Levy, Eric Boerwinkle, Andrew B. Singleton, Dena G. Hernandez, Dan L. Longo, Nicole Soranzo, Jacqueline C. M. Witteman, Bruce M. Psaty, Luigi Ferrucci, Tamara B. Harris, Christopher J. O'Donnell, Santhi K. Ganesh

PLoS Genet. 2011 Jun; 7(6): e1002113. Published online 2011 Jun 30. doi: 10.1371/journal.pgen.1002113

PMCID:: PMC3128114

Article PDF–522K

Select item 365747519.

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children

Jin Li, Joseph T. Glessner, Haitao Zhang, Cuiping Hou, Zhi Wei, Jonathan P. Bradfield, Frank D. Mentch, Yiran Guo, Cecilia Kim, Qianghua Xia, Rosetta M. Chiavacci, Kelly A. Thomas, Haijun Qiu, Struan F.A. Grant, Susan L. Furth, Hakon Hakonarson, Patrick M.A. Sleiman

Hum Mol Genet. 2013 Apr 1; 22(7): 1457–1464. Published online 2012 Dec 20. doi: 10.1093/hmg/dds534

PMCID:: PMC3657475

Article PDF–147K

Select item 279122020.

Common Genetic Variation and the Control of HIV-1 in Humans

Jacques Fellay, Dongliang Ge, Kevin V. Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T. Cirulli, Thomas J. Urban, Kunlin Zhang, Curtis E. Gumbs, Jason P. Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F. Günthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, José M. Miro, Niels Obel, Steven M. Wolinsky, Jeremy J. Martinson, Roger Detels, Joseph B. Margolick, Lisa P. Jacobson, Patrick Descombes, Stylianos E. Antonarakis, Jacques S. Beckmann, Stephen J. O'Brien, Norman L. Letvin, Andrew J. McMichael, Barton F. Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B. Goldstein, NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)

PLoS Genet. 2009 Dec; 5(12): e1000791. Published online 2009 Dec 24. doi: 10.1371/journal.pgen.1000791

PMCID:: PMC2791220

Article PDF–1.7M

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