Results 51 to 60 of about 9,740,536 (302)

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes [PDF]

, 2013
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes ...
Schellenberg, Gerard D., He, X, Liu, Li, Xin He, State, MW, Roeder, K, Gibbs, RA, Lim, ET, Elaine T Lim, Lim, Elaine, Schellenberg, Gerard, Sanders, SJ, Schellenberg, GD, Stephan J. Sanders (446495), Gerard D Schellenberg, He, Xin, James S. Sutcliffe (262611), Sanders, Stephan J., James S Sutcliffe, Stephan J Sanders, Gibbs, Richard A., Gerard D. Schellenberg (160086), Silvia De Rubeis (446496), State, Matthew W., Sanders, Stephan, Silvia De Rubeis, Sutcliffe, JS, Mark J Daly, Williams, Scott M., Xin He (48101), Bernie Devlin (228374), Buxbaum, Joseph D., Matthew W. State (446497), Devlin, B, Joseph D. Buxbaum (144578), Mark J. Daly (210204), Bernie Devlin, Liu, L, De Rubeis, Silvia, Roeder, Kathryn, Sutcliffe, James, Buxbaum, Joseph, Gibbs, Richard, Kathryn Roeder (228381), State, Matthew, Kathryn Roeder, Elaine T. Lim (171627), Richard A. Gibbs (94141), Joseph D Buxbaum, Daly, Mark J., Sutcliffe, James S., Daly, MJ, Buxbaum, JD, Matthew W State, Li Liu, De, S, Devlin, Bernie, Richard A Gibbs, Li Liu (75607), De Rubeis, S, Daly, Mark, Lim, Elaine T.   +61 more
core   +2 more sources

Copy number variants, diseases and gene expression [PDF]

Human Molecular Genetics, 2009
Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using ...
Henrichsen CN, Chaignat E, Reymond A
openaire   +3 more sources

Frequent copy number variants in a cohort of Mexican-Mestizo individuals

Molecular Cytogenetics, 2023
Background The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genomes.
Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria Del Castillo, Leda Torres, Sara Frias   +14 more
doaj   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

Interpretation of genomic copy number variants using DECIPHER

, 2012
Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression.
Bevan, P., Corpas, M., Bragin, E., Clayton, S., Firth, H.V.   +4 more
core   +1 more source

Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis [PDF]

, 2009
BACKGROUND: The availability of the complete chicken (Gallus gallus) genome sequence as well as a large number of chicken probes for fluorescent in-situ hybridization (FISH) and microarray resources facilitate comparative genomic studies between ...
Ioannou, D., Völker, Martin, Robertson, Lindsay, Langley, Elizabeth J, Robertson, Lindsay BW, Tempest, Helen G, Skinner, Benjamin M., Tempest, Helen G., Tempest, H., Völker, M., Skinner, M., Crooijmans, Richard P.M.A., Hall, Anthony D, Fowler, K., Skinner, Benjamin M, Robertson, L.B., Crooijmans, Richard PMA, Skinner, B., Fowler, Katie E., Griffin, Darren K, Langley, E.J., Crooijmans, R.P.M.A., Griffin, D., Hall, A., Robertson, L., Tempest, H.G., Ioannou, Dimitris, Fowler, K.E., Crooijmans, R., Griffin, Darren K., Langley, E.   +30 more
core   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Penetrance for copy number variants associated with schizophrenia [PDF]

Human Molecular Genetics, 2010
The discovery of 'high-risk' de novo copy number variants (CNVs) associated with neuropsychiatric disorders such as schizophrenia offers the opportunity to translate these findings into useful tools for clinical geneticists. However, this will require estimation of penetrance for these variants, which has not yet been properly considered. To facilitate
Vassos, Evangelos, Collier, David A., Holden, Simon, Patch, Christine, Rujescu, Dan, St Clair, David, Lewis, Cathryn M.   +6 more
openaire   +3 more sources

Modelling stem cell differentiation related processes—A practical overview for biologists

FEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar, Xinqi Yan, Lucas F. Jansen Klomp, Stefano Schivo, Janine N. Post   +4 more
wiley   +1 more source

Schizophrenia copy number variants and associative learning [PDF]

Molecular Psychiatry, 2016
Large-scale genomic studies have made major progress in identifying genetic risk variants for schizophrenia. A key finding from these studies is that there is an increased burden of genomic copy number variants (CNVs) in schizophrenia cases compared with controls.
Clifton, N. E., Pocklington, A. J., Scholz, B., Rees, E., Walters, J. T. R., Kirov, G., O'Donovan, M. C., Owen, M. J., Wilkinson, L. S., Thomas, K. L., Hall, J.   +10 more
openaire   +3 more sources