Results 11 to 20 of about 9,010,468 (307)

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

International Journal of Cancer, 2019
Germline mutations in the major melanoma susceptibility gene CDKN2A explain genetic predisposition in only 10–40% of melanoma‐prone families. In our study we comprehensively characterized 488 melanoma cases from 451 non‐CDKN2A/CDK4 families for mutations
Christi J. van Asperen, Frederik J Hes, Thomas P Potjer   +2 more
exaly   +2 more sources

Susceptibility Genes to Plant Viruses

Viruses, 2018
Plant viruses use cellular factors and resources to replicate and move. Plants respond to viral infection by several mechanisms, including innate immunity, autophagy, and gene silencing, that viruses must evade or suppress.
Hernan Garcia-Ruiz
exaly   +2 more sources

Deciphering the immunocellular regulatory network in inflammatory bowel disease: from susceptibility genes to cellular effectors and toward precision therapies [PDF]

Frontiers in Immunology
Inflammatory bowel disease (IBD) is a chronic, immune-mediated intestinal disorder driven by dysregulated immune responses in genetically susceptible individuals.
Zhuzhu Wu, Zhuzhu Wu, Xiaolin Wang, Zitong Guan, Mengxue Han, Wenke Ma, Jie Li, Shuai Man, Zhenguo Wang, Zhenguo Wang, Zhenguo Wang, Qibiao Wu, Qibiao Wu   +12 more
doaj   +2 more sources

Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders

Nature Communications, 2023
Alternative polyadenylation (APA) plays an essential role in brain development; however, current transcriptome-wide association studies (TWAS) largely overlook APA in nominating susceptibility genes.
Ya Cui, F. Arnold, Fanglue Peng, Dan Wang, J. Li, S. Michels, E. Wagner, A. La Spada, Wei Li   +8 more
semanticscholar   +1 more source

Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Nature Genetics, 2023
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a
N. Wilcox, M. Dumont, A. González-Neira, S. Carvalho, Charles Joly Beauparlant, M. Crotti, C. Luccarini, P. Soucy, S. Dubois, R. Núñez-Torres, G. Pita, E. Gardner, J. Dennis, M. Alonso, N. Álvarez, C. Baynes, Annie-Claude Collin-Deschesnes, S. Desjardins, H. Becher, S. Behrens, M. Bolla, J. Castelao, J. Chang-Claude, S. Cornelissen, T. Dörk, C. Engel, M. Gago-Domínguez, P. Guénel, A. Hadjisavvas, E. Hahnen, Mikael Hartman, B. Herráez, B. Tan, V. Tan, Su-Ming Tan, G. H. Lim, E. Tan, P. Ho, A. Khng, A. Jung, R. Keeman, M. Kiechle, J. Li, M. Loizidou, M. Lush, K. Michailidou, M. Panayiotidis, X. Sim, Soo-Hwang Teo, J. Tyrer, L. van der Kolk, Cecilia Wahlström, Qin Wang, J. Perry, J. Benítez, Marjanka K. Schmidt, R. Schmutzler, P. Pharoah, Arnaud Droit, A. Dunning, A. Kvist, P. Devilee, D. Easton, J. Simard   +63 more
semanticscholar   +1 more source

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

JAMA Oncology, 2022
Key Points Question What breast tumor characteristics are associated with rare pathogenic protein truncating or missense variants in breast cancer susceptibility genes?
N. Mavaddat, L. Dorling, S. Carvalho, Jamie Allen, A. González-Neira, R. Keeman, M. Bolla, J. Dennis, Qin Wang, T. Ahearn, I. Andrulis, M. Beckmann, S. Behrens, J. Benítez, M. Bermisheva, C. Blomqvist, N. Bogdanova, S. Bojesen, I. Briceño, T. Brüning, N. Camp, A. Campbell, J. Castelao, J. Chang-Claude, S. Chanock, G. Chenevix-Trench, Hans Christiansen, K. Czene, T. Dörk, M. Eriksson, D. Evans, P. Fasching, J. Figueroa, H. Flyger, M. Gabrielson, M. Gago-Domínguez, J. Geisler, G. Giles, P. Guénel, A. Hadjisavvas, E. Hahnen, P. Hall, U. Hamann, J. Hartikainen, M. Hartman, Reiner Hoppe, A. Howell, A. Jakubowska, A. Jung, E. Khusnutdinova, V. Kristensen, J. Li, S. Lim, A. Lindblom, M. Loizidou, A. Lophatananon, J. Lubiński, M. Madsen, A. Mannermaa, M. Manoochehri, S. Margolin, D. Mavroudis, R. Milne, N. A. Mohd Taib, A. Morra, K. Muir, N. Obi, A. Osorio, T. Park-Simon, P. Peterlongo, P. Radice, E. Saloustros, E. Sawyer, R. Schmutzler, M. Shah, X. Sim, M. Southey, H. Thorne, I. Tomlinson, Diana Torres, T. Truong, C. Yip, A. Spurdle, M. Vreeswijk, A. Dunning, M. García-Closas, P. Pharoah, A. Kvist, T. Muranen, H. Nevanlinna, Soo-Hwang Teo, P. Devilee, M. Schmidt, D. Easton   +93 more
semanticscholar   +1 more source

Bioinformatic analysis of biological pathways in coronary heart disease and Alzheimer’s disease

Бюллетень сибирской медицины, 2023
Aim. Using bioinformatic tools, to perform a pathway enrichment analysis in Alzheimer’s disease and coronary heart disease (CHD).Materials and methods.
N. Y. Chasovskikh, E. E. Chizhik
doaj   +1 more source

Mutations introduced in susceptibility genes through CRISPR/Cas9 genome editing confer increased late blight resistance in potatoes

Scientific Reports, 2021
The use of pathogen-resistant cultivars is expected to increase yield and decrease fungicide use in agriculture. However, in potato breeding, increased resistance obtained via resistance genes (R-genes) is hampered because R-gene(s) are often specific ...
N. P. Kieu, M. Lenman, Eu-Sheng Wang, B. Petersen, E. Andreasson   +4 more
semanticscholar   +1 more source

Susceptibility genes of hyperuricemia and gout

Hereditas, 2022
Gout is a chronic metabolic disease that seriously affects human health. It is also a major challenge facing the world, which has brought a heavy burden to patients and society. Hyperuricemia (HUA) is the most important risk factor for gout.
Yueli Nian, Chong-Ge You
semanticscholar   +1 more source

Genetic epidemiology of breast cancer in CYPRUS: A case -control study of DNA repair genes [PDF]

, 2009
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.The occurrence of early-onset breast cancer (EOBC) has been associated with germline mutations in the BRCA1 and BRCA2 genes.
Loizidou, Maria, Liozidou, Maria
core   +5 more sources