Results 141 to 150 of about 1,695,985 (356)

Copy number variation analysis in the great apes reveals species-specific patterns of structural variation [PDF]

, 2011
Gazave, Elodie et al.Copy number variants (CNVs) are increasingly acknowledged as an important source of evolutionary novelties in the human lineage. However, our understanding of their significance is still hindered by the lack of primate CNV data.
Bosch, Elena, Carreño Torres, Ángel, Darré-Toulemonde, Fleur, Gazave, Elodie, Marigorta, Urko M., Marqués-Bonet, Tomàs, Morcillo-Suárez, Carlos, Navarro, Arcadi, Petit-Marty, Natalia   +8 more
core   +2 more sources

Rare copy number deletions predict individual variation in intelligence.

PLoS ONE, 2011
Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible ...
Ronald A Yeo, Steven W Gangestad, Jingyu Liu, Vince D Calhoun, Kent E Hutchison   +4 more
doaj   +1 more source

Tandem repeat copy-number variation in protein-coding regions of human genes. [PDF]

, 2005
Colm O’Dushlaine, Richard J. Edwards, Stephen D Park, Denis C. Shields   +3 more
openalex   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Genomic copy number variation analysis in multiple system atrophy

Molecular Brain, 2017
Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants (CNVs). CNVs affect gene expression by altering the genome structure and transposable elements within a region.
Yuka Hama, Masataka Katsu, Ichigaku Takigawa, Ichiro Yabe, Masaaki Matsushima, Ikuko Takahashi, Takayuki Katayama, Jun Utsumi, Hidenao Sasaki   +8 more
doaj   +1 more source

A high resolution map of segmental DNA copy number variation in the mouse genome [PDF]

, 2005
Timothy A. Graubert, Patrick Cahan, Deepa Edwin, Rebecca R. Selzer, Todd Richmond, Peggy Eis, William D. Shannon, Xia Li, Howard L. McLeod, James M. Cheverud, Timothy J. Ley   +10 more
openalex   +1 more source

Consequences of CYP2D6 Copy-Number Variation for Pharmacogenomics in Psychiatry

Frontiers in Psychiatry, 2019
Pharmacogenomics represents a potentially powerful enhancement to the current standard of care for psychiatric patients. However, a variety of biological and technical challenges must be addressed in order to provide adequate clinical decision support ...
J. Jarvis, A. P. Peter, Jeffrey A. Shaman   +2 more
semanticscholar   +1 more source

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

Molecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +17 more
wiley   +1 more source

Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas. [PDF]

, 2015
To determine whether IDH1 mutations are present in primary and relapsed (local and distal) conventional central chondrosarcomas; and secondly, to assess if loss of p16/CDKN2A is associated with tumour grade progression, 102 tumour samples from 37 ...
Amary, MF, Damato, S, Flanagan, AM, Forbes, G, Maggiani, F, Pollock, R, Tirabosco, R, Ye, H   +7 more
core   +1 more source

Research progress in copy number variation in ovarian cancer [PDF]

Xin yixue
Genetic variation is one of the important factors leading to the incidence and development of cancer. Copy number variation is an important source of genetic diversity， which can be expressed as gene amplification or deletion in structure， and is related
SUN Mengna, XU Ying, REN Chenlu, YAN Yufan, CHEN Zhihao, YANG Hong
doaj   +1 more source