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Items: 1 to 20 of 25

1.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
2.
The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren’s Contracture
Gediminas Samulenas, Ruta Insodaite, Edita Kunceviciene, Roberta Poceviciute, Lorena Masionyte, Urte Zitkeviciute, Loreta Pilipaityte, Alina Smalinskiene
Genes (Basel) 2022 May; 13(5): 743. Published online 2022 Apr 23. doi: 10.3390/genes13050743
PMCID:
PMC9141853
AbstractArticlePDF–248K
3.
Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty
Dewei Li, Le Tian, Xiaochuan Wang, Min Chen
BMC Med Genomics. 2021; 14: 247. Published online 2021 Oct 13. doi: 10.1186/s12920-021-01095-7
PMCID:
PMC8513235
AbstractArticlePDF–2.1M
4.
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
AbstractArticlePDF–2.2M
5.
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy
Jing Zhang, Dan Wu, Yue Li, Yidan Fan, Yiqin Dai, Jianjiang Xu
Aging (Albany NY) 2019 Feb 15; 11(3): 1019–1029. Published online 2019 Feb 4. doi: 10.18632/aging.101807
PMCID:
PMC6382428
AbstractArticlePDF–3.2M
6.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
7.
Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6
Fulya Yaylacioglu Tuncay, Gülsüm Kayman Kurekci, Sezen Guntekin Ergun, Ozge Tugce Pasaoglu, Rustu Fikret Akata, Pervin Rukiye Dincer
Mol Vis. 2016; 22: 1267–1279. Published online 2016 Oct 26.
PMCID:
PMC5082643
AbstractArticlePDF–1.0M
8.
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
Nadia Carstens, Susan Williams, Saadiah Goolam, Trevor Carmichael, Ming Sin Cheung, Stine Büchmann-Møller, Marc Sultan, Frank Staedtler, Chao Zou, Peter Swart, Dennis S. Rice, Arnaud Lacoste, Kim Paes, Michèle Ramsay
BMC Med Genet. 2016; 17: 47. Published online 2016 Jul 20. doi: 10.1186/s12881-016-0308-0
PMCID:
PMC4955246
AbstractArticlePDF–1.6M
9.
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations
Shin Hae Park, Ye Jin Ahn, Hyojin Chae, Yonggoo Kim, Man Soo Kim, Myungshin Kim
Mol Vis. 2015; 21: 1201–1209. Published online 2015 Oct 26.
PMCID:
PMC4626780
AbstractArticlePDF–1.0M
10.
Macular corneal dystrophy and associated corneal thinning
L Dudakova, M Palos, M Svobodova, J Bydzovsky, L Huna, K Jirsova, A J Hardcastle, S J Tuft, P Liskova
Eye (Lond) 2014 Oct; 28(10): 1201–1205. Published online 2014 Aug 1. doi: 10.1038/eye.2014.164
PMCID:
PMC4194335
AbstractArticlePDF–1.3M
11.
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer
Brian M. Wolpin, Cosmeri Rizzato, Peter Kraft, Charles Kooperberg, Gloria M. Petersen, Zhaoming Wang, Alan A. Arslan, Laura Beane-Freeman, Paige M. Bracci, Julie Buring, Federico Canzian, Eric J. Duell, Steven Gallinger, Graham G. Giles, Gary E. Goodman, Phyllis J. Goodman, Eric J. Jacobs, Aruna Kamineni, Alison P. Klein, Laurence N. Kolonel, Matthew H. Kulke, Donghui Li, Núria Malats, Sara H. Olson, Harvey A. Risch, Howard D. Sesso, Kala Visvanathan, Emily White, Wei Zheng, Christian C. Abnet, Demetrius Albanes, Gabriella Andreotti, Melissa A. Austin, Richard Barfield, Daniela Basso, Sonja I. Berndt, Marie-Christine Boutron-Ruault, Michelle Brotzman, Markus W. Büchler, H. Bas Bueno-de-Mesquita, Peter Bugert, Laurie Burdette, Daniele Campa, Neil E. Caporaso, Gabriele Capurso, Charles Chung, Michelle Cotterchio, Eithne Costello, Joanne Elena, Niccola Funel, J. Michael Gaziano, Nathalia A. Giese, Edward L. Giovannucci, Michael Goggins, Megan J. Gorman, Myron Gross, Christopher A. Haiman, Manal Hassan, Kathy J. Helzlsouer, Brian E. Henderson, Elizabeth A. Holly, Nan Hu, David J. Hunter, Federico Innocenti, Mazda Jenab, Rudolf Kaaks, Timothy J. Key, Kay-Tee Khaw, Eric A. Klein, Manolis Kogevinas, Vittorio Krogh, Juozas Kupcinskas, Robert C. Kurtz, Andrea LaCroix, Maria T. Landi, Stefano Landi, Loic Le Marchand, Andrea Mambrini, Satu Mannisto, Roger L. Milne, Yusuke Nakamura, Ann L. Oberg, Kouros Owzar, Alpa V. Patel, Petra H. M. Peeters, Ulrike Peters, Raffaele Pezzilli, Ada Piepoli, Miquel Porta, Francisco X. Real, Elio Riboli, Nathaniel Rothman, Aldo Scarpa, Xiao-Ou Shu, Debra T. Silverman, Pavel Soucek, Malin Sund, Renata Talar-Wojnarowska, Philip R. Taylor, George E. Theodoropoulos, Mark Thornquist, Anne Tjønneland, Geoffrey S. Tobias, Dimitrios Trichopoulos, Pavel Vodicka, Jean Wactawski-Wende, Nicolas Wentzensen, Chen Wu, Herbert Yu, Kai Yu, Anne Zeleniuch-Jacquotte, Robert Hoover, Patricia Hartge, Charles Fuchs, Stephen J. Chanock, Rachael S. Stolzenberg-Solomon, Laufey T. Amundadottir
Nat Genet. Author manuscript; available in PMC 2015 Mar 1.
Published in final edited form as: Nat Genet. 2014 Sep; 46(9): 994–1000. Published online 2014 Aug 3. doi: 10.1038/ng.3052
PMCID:
PMC4191666
AbstractArticlePDF–2.0M
12.
A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
You Kyung Lee, Dong-Jin Chang, Sung Kun Chung
Korean J Ophthalmol. 2013 Dec; 27(6): 454–458. Published online 2013 Nov 15. doi: 10.3341/kjo.2013.27.6.454
PMCID:
PMC3849310
AbstractArticlePDF–1.6M
13.
Significance of NF-κB/GATA Axis in Tumor Necrosis Factor-α-induced Expression of 6-Sulfated Cell Recognition Glycans in Human T-lymphocytes
Guo-Yun Chen, Keiichiro Sakuma, Reiji Kannagi
J Biol Chem. 2008 Dec 12; 283(50): 34563–34570. doi: 10.1074/jbc.M804271200
PMCID:
PMC3259878
AbstractArticlePDF–707K
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.
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
Ya-nan Huo, Yu-feng Yao, Ping Yu
J Zhejiang Univ Sci B. 2011 Sep; 12(9): 687–693. doi: 10.1631/jzus.B1100011
PMCID:
PMC3167901
AbstractArticlePDF–452K
16.
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy
Dhara A. Patel, George J. Harocopos, Shu-Hong Chang, Smita C. Vora, Anthony J. Lubniewski, Andrew J.W. Huang
Cornea. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Cornea. 2011 Jun; 30(6): 664–669. doi: 10.1097/ICO.0b013e3182012888
PMCID:
PMC3092828
AbstractArticlePDF–1.3M
17.
Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects
Zari Dastani, Päivi Pajukanta, Michel Marcil, Nicholas Rudzicz, Isabelle Ruel, Swneke D Bailey, Jenny C Lee, Mathieu Lemire, Janet Faith, Jill Platko, John Rioux, Thomas J Hudson, Daniel Gaudet, James C Engert, Jacques Genest
Eur J Hum Genet. 2010 Mar; 18(3): 342–347. Published online 2009 Oct 21. doi: 10.1038/ejhg.2009.157
PMCID:
PMC2824775
AbstractArticlePDF–366K
18.
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6
Xiuhong Dang, Qingguo Zhu, Li Wang, Hong Su, Hui Lin, Nan Zhou, Ting Liang, Zheng Wang, Shangzhi Huang, Qiushi Ren, Yanhua Qi
Mol Vis. 2009; 15: 700–705. Published online 2009 Apr 6.
PMCID:
PMC2666773
AbstractArticlePDF–2.8M
19.
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy
Shiva Akbari Birgani, Zivar Salehi, Masoud Houshmand, Mohamad Javad Mohamadi, Leila Azizade Promehr, Zahra Mozafarzadeh
Mol Vis. 2009; 15: 373–377. Published online 2009 Feb 18.
PMCID:
PMC2642847
AbstractArticlePDF–1.2M
20.
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
Afia Sultana, Gordon K. Klintworth, Eugene J-M.A. Thonar, Geeta K. Vemuganti, Chitra Kannabiran
Mol Vis. 2009; 15: 319–325. Published online 2009 Feb 9.
PMCID:
PMC2635850
AbstractArticlePDF–29M

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