Results 61 to 70 of about 7,614,096 (384)
Aneuploidy is usually deleterious in multicellular organisms but appears to be tolerated and potentially beneficial in unicellular organisms, including pathogens. Leishmania, a major protozoan parasite, is emerging as a new model for aneuploidy, since in
F. Dumetz +17 more
doaj +1 more source
Rare dosage abnormalities flanking the SHOX gene
Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene.
David J. Bunyan +14 more
doaj +1 more source
X‐chromosome inactivation ensures dosage compensation between the sexes in mammals by randomly choosing one out of the two X chromosomes in females for inactivation.
Barr M. L. +4 more
core +1 more source
Common CHD8 Genomic Targets Contrast With Model-Specific Transcriptional Impacts of CHD8 Haploinsufficiency. [PDF]
The packaging of DNA into chromatin determines the transcriptional potential of cells and is central to eukaryotic gene regulation. Case sequencing studies have revealed mutations to proteins that regulate chromatin state, known as chromatin remodeling ...
Catta-Preta, Rinaldo +3 more
core +6 more sources
Summary: Deep learning models have advanced our ability to predict cell-type-specific chromatin patterns from transcription factor (TF) binding motifs, but their application to perturbed contexts remains limited.
Sahin Naqvi +6 more
doaj +1 more source
Common variation near ROBO2 is associated with expressive vocabulary in infancy [PDF]
Twin studies suggest that expressive vocabulary at ~24 months is modestly heritable. However, the genes influencing this early linguistic phenotype are unknown. Here we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers
Ang, Qi W. +31 more
core +9 more sources
Dosage-sensitive genes in evolution and disease [PDF]
For a subset of genes in our genome a change in gene dosage, by duplication or deletion, causes a phenotypic effect. These dosage-sensitive genes may confer an advantage upon copy number change, but more typically they are associated with disease, including heart disease, cancers and neuropsychiatric disorders. This gene copy number sensitivity creates
Alan M. Rice, Aoife McLysaght
openaire +5 more sources
Mice in ecstasy : advanced animal models in the study of MDMA [PDF]
The party drug 3,4-methylenedioxymethamphetamine -better known as MDMA or ecstasy- has numerous effects on the human body, characterized by a rush of energy, euphoria and empathy.
Stove, Christophe +3 more
core +2 more sources
ABSTRACT Background/Objectives Osteosarcoma is a radioresistant tumor that may benefit from stereotactic body radiation therapy (SBRT) for locoregional control in metastatic/recurrent disease. We report institutional practice patterns, outcomes, toxicity, and failures in osteosarcoma patients treated with SBRT.
Jenna Kocsis +13 more
wiley +1 more source
Melarsoprol cyclodextrin inclusion complexes as promising oral candidates for the treatment of human African trypanosomiasis [PDF]
Human African trypanosomiasis (HAT), or sleeping sickness, results from infection with the protozoan parasites <i>Trypanosoma brucei</i> (<i>T.b.</i>) <i>gambiense</i> or <i>T.b.rhodesiense</i> and is ...
AA Poltera +45 more
core +7 more sources

