Results 51 to 60 of about 737,082 (371)

Functional single nucleotide polymorphism-based association studies

Human Genomics, 2006
Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two main types of designs.
Carlton Victoria EH, Ireland James S, Useche Francisco, Faham Malek   +3 more
doaj   +1 more source

Leaf transcriptome analysis of a subtropical evergreen broadleaf plant, wild oil-tea camellia (Camellia oleifera), revealing candidate genes for cold acclimation [PDF]

, 2017
Single nucleotide polymorphism (SNP) positions in genes of Camellia oleifera. Genotypes of samples from Jinggang (JG01-04) and Lu (LS01-04) mountains are shown.
Chuan Long, Jiakuan Chen, Jiaming Chen, Jun Rong, Shihua Duan, Xiaomao Huang, Xiaoqiang Yang   +6 more
core   +8 more sources

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source

Comprehensive DNA profiling strategy for patient-derived xenograft model authentication in the J-PDX library

Scientific Reports
Patient-derived xenograft models are crucial in cancer research, although authentication methods remain limited. This study developed a comprehensive DNA profiling strategy for patient-derived xenograft quality control in the J-PDX Library by comparing ...
Tomomi Yoshino, Shigehiro Yagishita, Mami Takahashi, Chiaki Ushie, Ako Takahashi, Yasushi Yatabe, Shinji Kohsaka, Toshihide Ueno, Hanako Ono, Kouya Shiraishi, Akinobu Hamada   +10 more
doaj   +1 more source

XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphisms in cervical cancer risk [PDF]

, 2013
Human Papillomavirus (HPV) is the main cause of cervical cancer and its precursor lesions. Transformation may be induced by several mechanisms, including oncogene activation and genome instability.
A Roszak, A Söderlund-Strand, A Udumudi, Andrea Crivaro, B Kuschel, Carlos Daniel Golijow, CL Pearce, EI Cortés-Gutiérrez, G Barbisan, Gisela Barbisan, H Romanowicz-Makowska, J Han, J Huang, J Thacker, K Ruyck De, L Jiao, Lucia Poleri, Luis Orlando Pérez, M Evander, M Kadaja, M Kadaja, M Kadaja, M Kadaja, MA Loizidou, P Magnusson, P Vineis, S Duensing, S Rafii, S Rafii, SA Miller, SS Wang, TC Wright, W Settheetham-Ishida, X He, Y Ting   +34 more
core   +2 more sources

Class IIa HDACs forced degradation allows resensitization of oxaliplatin‐resistant FBXW7‐mutated colorectal cancer

Molecular Oncology, EarlyView.
HDAC4 is degraded by the E3 ligase FBXW7. In colorectal cancer, FBXW7 mutations prevent HDAC4 degradation, leading to oxaliplatin resistance. Forced degradation of HDAC4 using a PROTAC compound restores drug sensitivity by resetting the super‐enhancer landscape, reprogramming the epigenetic state of FBXW7‐mutated cells to resemble oxaliplatin ...
Vanessa Tolotto, Nicolò Gualandi, Ylenia Cortolezzis, Raffaella Picco, Monica Colitti, Francesca D'Este, Mariachiara Gani, Wayne W. Hancock, Giovanni Terrosu, Cristina Degrassi, Francesca Agostini, Claudio Brancolini, Luigi E. Xodo, Eros Di Giorgio   +13 more
wiley   +1 more source

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Circulation Research, 2014
Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. Objective: To determine the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic CHD.
J. Glessner, A. Bick, K. Ito, Jason G. Homsy, Laura Rodríguez-Murillo, M. Fromer, Erica Mazaika, B. Vardarajan, Michael J. Italia, Jeremy Leipzig, S. DePalma, R. Golhar, Stephan J Sanders, B. Yamrom, M. Ronemus, I. Iossifov, A. Willsey, M. State, J. Kaltman, P. White, Yufeng Shen, D. Warburton, M. Brueckner, C. Seidman, E. Goldmuntz, B. Gelb, R. Lifton, J. Seidman, H. Hakonarson, W. Chung   +29 more
semanticscholar   +1 more source

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 more
wiley   +1 more source

Simulasi Metode Statistik untuk Seleksi Single Nucleotide Polymorphism

Biotropika: Journal of Tropical Biology, 2019
Kemajuan teknologi sekuensing menyebabkan peningkatan ketersediaan sekuen genom organisme. Ribuan strain dan isolat dari berbagai populasi organisme telah diisolasi serta diketahui sekuen genomnya.
Mohamad Ikhsan Nurulloh, Hidayat Trimarsanto, Yustinus Ulung Anggraito, Endah Peniati, R Susanti   +4 more
doaj   +1 more source

Molecular characterisation of human penile carcinoma and generation of paired epithelial primary cell lines

Molecular Oncology, EarlyView.
Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad, Mahmood Hachim, Tom Bertin, Karolina Penderecka, Rifat Hamoudi, Saif Khan, Rui Henrique, Natalie Bergmoser, Manit Arya, Kalle Sipila, Matteo Vietri Rudan, Asif Muneer, Aamir Ahmed   +12 more
wiley   +1 more source