Results 31 to 40 of about 143,667 (204)

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis

BMC Medical Informatics and Decision Making, 2012
Background Semantic Web technology can considerably catalyze translational genetics and genomics research in medicine, where the interchange of information between basic research and clinical levels becomes crucial.
Taboada María, Martínez Diego, Pilo Belén, Jiménez-Escrig Adriano, Robinson Peter N, Sobrido María J   +5 more
doaj   +1 more source

The consistency of beneficial fitness effects of mutations across diverse genetic backgrounds. [PDF]

PLoS ONE, 2012
Parallel and convergent evolution have been remarkably common observations in molecular adaptation but primarily in the context of the same genotype adapting to the same conditions.
Victoria M Pearson, Craig R Miller, Darin R Rokyta   +2 more
doaj   +1 more source

Mapping phyllosphere microbiota interactions in planta to establish genotype-phenotype relationships

Nature Microbiology, 2022
Host-associated microbiomes harbour hundreds of bacterial species that co-occur, creating the opportunity for manifold bacteria–bacteria interactions, which in turn contribute to the overall community structure.
M. Schäfer, C. Vogel, Miriam Bortfeld-Miller, Maximilian Mittelviefhaus, J. Vorholt   +4 more
semanticscholar   +1 more source

Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series

Bone Reports
Family mapping is a useful tool for tracking the inheritance of rare inherited diseases, including hypophosphatasia (HPP), through generations. We show the inheritance of HPP in 6 affected families, describing genetic variants, biochemical hallmarks, and
Peter Kannu, Aliya A. Khan, Mira Francis, Jonathan D. Adachi   +3 more
doaj   +1 more source

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris, Priya B. Shetty, Olga A. Taylor, Elizabeth G. Atkinson, Melissa A. Richard, M. Monica Gramatges, Mark Zobeck, Sandi Pruitt, Amy Hughes, M. Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Han Chen, Bing Yu, Philip J. Lupo, Karen R. Rabin, Michael E. Scheurer, Austin L. Brown, The REDIAL Consortium   +24 more
wiley   +1 more source

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

medRxiv, 2021
Objective: Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability.
K. Johannesen, S. Iqbal, M. Guazzi, Nazanin A Mohammadi, Eduardo Pérez-Palma, E. Schaefer, A. de Saint Martin, M. Abi-Wardé, A. Mctague, R. Pons, A. Piton, M. Kurian, G. Ambegaonkar, H. Firth, Alba Sanchis-Juan, Marie Deprez, K. Jansen, Liesbeth de Waele, E. Brilstra, N. Verbeek, M. V. van Kempen, W. Fazeli, P. Striano, F. Zara, G. Visser, H. Braakman, M. Haeusler, M. Elbracht, D. Sternman, U. Vaher, Thomas Smol, J. Lemke, Konrad Platzer, Joanna Kennedy, K. Klein, Ping-Yee B Au, Kimberly Smyth, J. Kaplan, Morgan G. Thomas, Malin Dewenter, A. Dinopoulos, Dennis Lal, D. Lederer, Arthur J. Campbell, V. Liao, P. Ahring, R. Møller, E. Gardella   +47 more
semanticscholar   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Neutral Networks and Evolvability with Complex Genotype-Phenotype Mapping

European Conference on Artificial Life, 2001
In this paper, we investigate a neutral epoch during an optimisation run with complex genotype-to-fitness mapping. The behaviour of the search process during neutral epochs is of importance for evolutionary robotics and other artificial-life approaches ...
Tom Smith, P. Husbands, M. O’Shea
semanticscholar   +1 more source

Pangenome-genotyped structural variation improves molecular phenotype mapping in cattle

bioRxiv, 2023
Expression and splicing quantitative trait loci (e/sQTL) are large contributors to phenotypic variability. Achieving sufficient statistical power for e/sQTL mapping requires large cohorts with both genotypes and molecular phenotypes, and so the genomic ...
A. Leonard, X. M. Mapel, H. Pausch
semanticscholar   +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