Results 51 to 60 of about 1,801,438 (286)

Quantitative analysis of genetic and neuronal multi-perturbation experiments. [PDF]

PLoS Computational Biology, 2005
Perturbation studies, in which functional performance is measured after deletion, mutation, or lesion of elements of a biological system, have been traditionally employed in many fields in biology. The vast majority of these studies have been qualitative
Alon Kaufman, Alon Keinan, Isaac Meilijson, Martin Kupiec, Eytan Ruppin   +4 more
doaj   +2 more sources

Structural basis of epilepsy-related ligand–receptor complex LGI1–ADAM22

Nature Communications, 2018
LGI1 is an epilepsy-related gene that encodes a secreted neuronal protein. Here the authors present the crystal structure of LGI1 bound to its receptor ADAM22, which provides structural insights into epilepsy-causing LGI1 mutations and might facilitate ...
Atsushi Yamagata, Yuri Miyazaki, Norihiko Yokoi, Hideki Shigematsu, Yusuke Sato, Sakurako Goto-Ito, Asami Maeda, Teppei Goto, Makoto Sanbo, Masumi Hirabayashi, Mikako Shirouzu, Yuko Fukata, Masaki Fukata, Shuya Fukai   +13 more
doaj   +1 more source

Detection of regulator genes and eQTLs in gene networks

, 2016
Genetic differences between individuals associated to quantitative phenotypic traits, including disease states, are usually found in non-coding genomic regions.
A Butte, A Chatr-Aryamontri, A Clauset, A Joshi, A Joshi, A Kundaje, AA Shabalin, AJ Enright, AJ Walhout, AS Dimas, B Schwanhausser, B Zhang, B Zhang, C Cenik, CO Daub, D Koller, DA Cusanovich, DM Greenawalt, E Bonnet, E Ravasz, E Segal, EC Neto, EC Neto, EC Neto, EE Schadt, EE Schadt, EE Schadt, EE Schadt, EE Schadt, EJ Foss, F Grubert, F Yue, FA Cubillos, FW Albert, G Hemani, G Nicholson, GD Smith, GH Golub, H Foroughi Asl, H Talukdar, HN Kadarmideen, J Millstein, J Qi, J Zhu, J Zhu, J Zhu, JE Aten, JF Ayroles, JJ Faith, JL Björkegren, JS Liu, K Basso, K Qu, KG Ardlie, L Wu, LA Hindorff, LH Hartwell, LS Chen, M Ashburner, M Civelek, M Georges, M Gerstein, M Medvedovic, M Schmidt, M Scutari, MA Schaub, MB Eisen, MD Ritchie, ME Goddard, MEJ Newman, MEJ Newman, MV Rockman, MV Rockman, N Friedman, N Friedman, N Friedman, N Laird, O Stegle, P Langfelder, P Langfelder, P Langfelder, P Lu, R Sharan, R Sharan, RB Brem, RW Williams, S Lee, S Roy, S Tavazoie, SI Lee, SM Waszak, SS Rao, T Lappalainen, T Michoel, TA Manolio, TF Mackay, The ENCODE, TS Furey, VG Cheung, W Cookson, W Zhang, Y Chen, Y Li   +102 more
core   +1 more source

Which Kind of Causal Specificity Matters Biologically? [PDF]

, 2017
Griffiths et al. (2015) have proposed a quantitative measure of causal specificity and used it to assess various attempts to single out genetic causes as being causally more specific than other cellular mechanisms, for example, alternative splicing ...
Weber, Marcel
core   +2 more sources

Quantitative genetics of disease traits [PDF]

Journal of Animal Breeding and Genetics, 2015
SummaryJohn James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James’
Wray, N. R., Visscher, P. M.
openaire   +4 more sources

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm, Bea Tornberg, Erik Delsing Malmberg, Henrik Hasle, Kristian Løvvik Juul‐Dam, Lars Palmqvist, Borhan R. Saeed, Giti Shah Barkhordar, Anastasia Soboli, Anna Staffas, Jonas Abrahamsson, Linda Fogelstrand   +11 more
wiley   +1 more source

Uncovering the Genetic Architectures of Quantitative Traits

Computational and Structural Biotechnology Journal, 2016
The aim of a genome-wide association study (GWAS) is to identify loci in the human genome affecting a phenotype of interest. This review summarizes some recent work on conceptual and methodological aspects of GWAS. The average effect of gene substitution
James J. Lee, Shashaank Vattikuti, Carson C. Chow   +2 more
doaj   +1 more source

The Genetic Basis of Mutation Rate Variation in Yeast. [PDF]

, 2018
Mutations are the root source of genetic variation and underlie the process of evolution. Although the rates at which mutations occur vary considerably between species, little is known about differences within species, or the genetic and molecular basis ...
Bloom, Joshua S, Gou, Liangke, Kruglyak, Leonid   +2 more
core   +1 more source

Emapalumab for Immune Effector Cell‐Associated Hemophagocytic Lymphohistiocytosis‐Like Syndrome Following CD19‐Directed CAR‐T in Two Patients With B‐ALL: Clinical and Biomarker Correlates

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Immune effector cell‐associated hemophagocytic lymphohistiocytosis‐like syndrome (IEC‐HS) is a life‐threatening hyperinflammatory toxicity distinct from cytokine release syndrome (CRS) and neurotoxicity following chimeric antigen receptor T‐cell (CAR‐T) therapy. In a single‐institution retrospective cohort of pediatric and young adult patients
Thomas J. Galletta, Jeremy D. Rubinstein, Christopher E. Dandoy, Ruby Khoury, Angela Faulhaber, Christine L. Phillips, Christa Krupski   +6 more
wiley   +1 more source

Bayesian Sparse Factor Analysis of Genetic Covariance Matrices [PDF]

, 2013
Quantitative genetic studies that model complex, multivariate phenotypes are important for both evolutionary prediction and artificial selection. For example, changes in gene expression can provide insight into developmental and physiological mechanisms ...
Mukherjee, Sayan, Runcie, Daniel E
core   +4 more sources