Results 61 to 70 of about 7,614,096 (384)

Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression

open access: yesmBio, 2017
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

open access: yesEgyptian Journal of Medical Human Genetics, 2021
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

Dosage Sensing, Threshold Responses, and Epigenetic Memory: A Systems Biology Perspective on Random X‐Chromosome Inactivation

open access: yes, 2020
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]

open access: yes, 2018
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

Transfer learning reveals sequence determinants of the quantitative response to transcription factor dosage

open access: yesCell Genomics
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]

open access: yes, 2014
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]

open access: yesBMC Biology, 2017
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]

open access: yes, 2010
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

Stereotactic Body Radiation Therapy for Pediatric, Adolescent, and Young Adult Patients With Osteosarcoma: Local Control Outcomes With Dosimetric Analysis

open access: yesPediatric Blood &Cancer, EarlyView.
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]

open access: yes, 2011
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

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