Results 41 to 50 of about 408,305 (347)
, 1978 Gene-dosage responses for a group of six wheat endosperm proteins have been investigated by using compensated nulli-tetrasomic lines of cv. Chinese Spring. Practically linear dosage responses have been observed for all the proteins.
Aragoncillo Ballesteros, Cipriano +4 more
core +1 more source
Human gene copy number spectra analysis in congenital heart malformations [PDF]
, 2012 The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P. +13 more
core +2 more sources
Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories. [PDF]
, 2019 Despite the importance of understanding how variability across induced pluripotent stem cell (iPSC) lines due to non-genetic factors (clone and passage) influences their differentiation outcome, large-scale studies capable of addressing this question ...
Banovich +34 more
core +2 more sources
Cell GenomicsSummary: 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
Paralog dependency indirectly affects the robustness of human cells
Molecular Systems Biology, 2019 The protective redundancy of paralogous genes partly relies on the fact that they carry their functions independently. However, a significant fraction of paralogous proteins may form functionally dependent pairs, for instance, through heteromerization ...
Rohan Dandage, Christian R Landry
doaj +1 more source
Rare dosage abnormalities flanking the SHOX gene
Egyptian 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
Abnormal Action Potentials Associated with the Shaker Complex Locus of Drosophila [PDF]
, 1981 Intracellular recordings of action potentials were made from the cervical giant axon in Shaker (Sh) mutants and normal Drosophila. The mutants showed abnormally long delays in repolarization.
Ferrus, Alberto +2 more
core +1 more source
Dosage-sensitive genes in evolution and disease [PDF]
BMC 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
Frontiers in MicrobiologyChymosin (EC3.4.23.4), primarily sourced from calf abomasum, serves as a conventional coagulant in milk curdling during cheese production. To improve the enzymatic properties and enhance the expression of calf chymosin (BtChy) in Kluyveromyces lactis to ...
Ying Han +4 more
doaj +1 more source
Common CHD8 Genomic Targets Contrast With Model-Specific Transcriptional Impacts of CHD8 Haploinsufficiency. [PDF]
, 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