Zobrazeno 1 - 10
of 46
pro vyhledávání: '"SNV, single nucleotide variant"'
Autor:
Samuel Long
Publikováno v:
Methods (San Diego, Calif.)
Sensitive PCR detection of viral nucleic acids plays a critical role in infectious disease research, diagnosis and monitoring. In the context of SARS-CoV-2 detection, recent reports indicate that digital PCR-based tests are significantly more sensiti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40ffd41efd3a3c73b76e2e0fb9f5b477
https://doi.org/10.1016/j.ymeth.2021.04.008
https://doi.org/10.1016/j.ymeth.2021.04.008
Autor:
Rebekka Van Hoof, Michal Szymonik, Stefanos K. Nomidis, Karen Hollanders, An Jacobs, Inge Nelissen, Patrick Wagner, Jef Hooyberghs
Publikováno v:
Sensors and Actuators B: Chemical
Nucleic acids duplex formation via hybridization is a crucial reaction in many processes and application across different disciplines. In life sciences the detection of mutations is an important application for which hybridization is used, e.g. in di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dad1bad7d75a270864d151971abdf89
https://lirias.kuleuven.be/handle/20.500.12942/702147
https://lirias.kuleuven.be/handle/20.500.12942/702147
Autor:
Marie A. Chaix, James Ellis, Cedric Manlhiot, Emily Lam, Paul C. Nathan, Neha Parmar, Anne Christie, Jane Lougheed, Paul F. Kantor, Guoliang Meng, Luc Mertens, Anastasia Miron, Leonard S. Sender, Stacey Marjerrison, Shayna Zelcer, Ashok Kumar Manickaraj, David C. Hodgson, Rejane Dillenburg, Seema Mital, Oyediran Akinrinade, Herschel Rosenberg, Roderick Yao, Caroline Kinnear, Myriam Lafreniere-Roula, Mylene Bassal
Publikováno v:
Paediatrics Publications
JACC: CardioOncology
JACC: CardioOncology
Background Despite known clinical risk factors, predicting anthracycline cardiotoxicity remains challenging. Objectives This study sought to develop a clinical and genetic risk prediction model for anthracycline cardiotoxicity in childhood cancer sur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9640c808872a8ac2a5f1d998b90f334
https://doi.org/10.1016/j.jaccao.2020.11.004
https://doi.org/10.1016/j.jaccao.2020.11.004
Publikováno v:
Roberts, V, Main, B, Timpson, N J & Haworth, S 2020, ' Genome wide association study identifies genetic associations with perceived age ', Journal of Investigative Dermatology . https://doi.org/10.1016/j.jid.2020.03.970
The Journal of Investigative Dermatology
The Journal of Investigative Dermatology
Failure of dermal protection or repair mechanisms might lead to visibly aged skin. The study aimed to identify genetic associations with perceived age. A genome-wide association study was undertaken in 423,992 adult participants of UK Biobank, using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fda96b6370996cd2266bb68713cb0c
https://doi.org/10.1016/j.jid.2020.03.970
https://doi.org/10.1016/j.jid.2020.03.970
Publikováno v:
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1891-1903 (2020)
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1891-1903 (2020)
Graphical abstract
The effective non-invasive diagnosis and prognosis are critical for cancer treatment. The plasma cell-free DNA (cfDNA) provides a good material for cancer liquid biopsy and its worth in this field is increasingly explored. Her
The effective non-invasive diagnosis and prognosis are critical for cancer treatment. The plasma cell-free DNA (cfDNA) provides a good material for cancer liquid biopsy and its worth in this field is increasingly explored. Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e8e0518c4f41d3f98f19936a95baccd
http://europepmc.org/articles/PMC7387736
http://europepmc.org/articles/PMC7387736
Autor:
Hong Li, Jun-Hua Nie, Tao Yang, Bo-Le Du, Guo-Qing Zhong, Jin Xiao, Yu Zhang, Ting-Ting Li, Zhi Li, Hai-Shan Ye, Chi Zhang, Jia Liu, Jian-Li He, Wen-Han Huang
Publikováno v:
Journal of Bone Oncology, Vol 30, Iss, Pp 100391-(2021)
Journal of Bone Oncology
Journal of Bone Oncology
Highlights • GPC3 mutation in primary osteosarcoma becomes abundant in its metastasis. • Mutant GPC3 is over-produced in metastatic spheroids with multidrug resistance. • Anti-GPC3 antibody effectively commits metastatic spheroids to apoptosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3d3dd6051b0684a8b2c3d5bd1813d14
http://www.sciencedirect.com/science/article/pii/S2212137421000464
http://www.sciencedirect.com/science/article/pii/S2212137421000464
Autor:
Claus Garbe, Katharina Zittlau, Boris Macek, Marisa Schmitt, Tobias Sinnberg, Katrin Bratl, Nicolas C. Nalpas
Publikováno v:
Molecular & Cellular Proteomics : MCP
Analysis of nucleotide variants is a cornerstone of cancer medicine. Although only 2% of the genomic sequence is protein coding, mutations occurring in these regions have the potential to influence protein structure or modification status and may hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d55738d47a8fb0d6432cd9bffb21f1
http://europepmc.org/articles/PMC8603206
http://europepmc.org/articles/PMC8603206
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2
Autor:
Paul M. K. Gordon, Ruping Chen, Patrick Frosk, Stephanie Clarke, Davinder S. Jassal, Nelly Abdelfatah, Colette M. Seifer, Cathleen Huculak, Brenda Gerull, Henry J. Duff, Robin Clegg, Carole Ober, Ilan Buffo
Publikováno v:
JACC: Basic to Translational Science
Visual Abstract
Highlights • The homozygous c.38T>G mutation in the LEMD2 gene causes arrhythmic cardiomyopathy with bilateral juvenile cataract in the Hutterite population. • The cardiac phenotype is characterized by localized inferior and
Highlights • The homozygous c.38T>G mutation in the LEMD2 gene causes arrhythmic cardiomyopathy with bilateral juvenile cataract in the Hutterite population. • The cardiac phenotype is characterized by localized inferior and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec55709d6a813536aa8939d34a216f6b
https://doi.org/10.1016/j.jacbts.2018.12.001
https://doi.org/10.1016/j.jacbts.2018.12.001
Autor:
Zhongzheng Zhu, Huangbin Lu, Hua Yu, Song Gao, Wei Dong, Jianguo Wu, Wen-Ming Cong, Xuejun Chen, Xianling Guo, Hui Dong, Qing Xu, Juemin Fang
Publikováno v:
Translational Oncology
Translational Oncology, Vol 14, Iss 10, Pp 101168-(2021)
Translational Oncology, Vol 14, Iss 10, Pp 101168-(2021)
Highlights • FGFR2 rearrangement frequency in Chinese cases is only 5.45%. • The first genomic aberration profiling of FGFRs in Chinese cases is presented. • Cases with FGFRs rearrangement have distinct clinical phenotype. • Patients without
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f388985d8206270ae81065f94c3d54cd
http://europepmc.org/articles/PMC8283138
http://europepmc.org/articles/PMC8283138
Autor:
Ioanna, Pyromali, Alexandre, Perani, Angélique, Nizou, Nesrine, Benslimane, Paco, Derouault, Sylvie, Bourthoumieu, Mélanie, Fradin, Guilhem, Sole, Fanny, Duval, Constantin, Gomes, Frédéric, Favreau, Franck, Sturtz, Corinne, Magdelaine, Anne-Sophie, Lia
Publikováno v:
Computational and Structural Biotechnology Journal
Graphical abstract
Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations
Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d8c542fa832d4065f63660d623407d92
https://pubmed.ncbi.nlm.nih.gov/34429846
https://pubmed.ncbi.nlm.nih.gov/34429846