Results 121 to 130 of about 7,614,096 (384)

Dosage sensitivity shapes the evolution of copy-number varied regions.

open access: yesPLoS ONE, 2010
Dosage sensitivity is an important evolutionary force which impacts on gene dispensability and duplicability. The newly available data on human copy-number variation (CNV) allow an analysis of the most recent and ongoing evolution.
Benjamin Schuster-Böckler   +2 more
doaj   +1 more source

A bacterial gene-drive system efficiently edits and inactivates a high copy number antibiotic resistance locus. [PDF]

open access: yes, 2019
Gene-drive systems in diploid organisms bias the inheritance of one allele over another. CRISPR-based gene-drive expresses a guide RNA (gRNA) into the genome at the site where the gRNA directs Cas9-mediated cleavage.
Bier, Ethan   +3 more
core   +1 more source

Human brain evolution and the "Neuroevolutionary Time-depth Principle:" Implications for the Reclassification of fear-circuitry-related traits in DSM-V and for studying resilience to warzone-related posttraumatic stress disorder. [PDF]

open access: yes, 2006
The DSM-III, DSM-IV, DSM-IV-TR and ICD-10 have judiciously minimized discussion of etiologies to distance clinical psychiatry from Freudian psychoanalysis.
Bracha, Dr. H. Stefan
core   +1 more source

Effects of CRISPR/Cas9 dosage on TICAM1 and RBL gene mutation rate, embryonic development, hatchability and fry survival in channel catfish

open access: yesScientific Reports, 2018
The current study was conducted to assess the effects of microinjection of different dosages of guide RNA (gRNA)/Cas9 protein on the mutation rate, embryo survival, embryonic development, hatchability and early fry survival in channel catfish, Ictalurus ...
Ahmed Elaswad   +13 more
semanticscholar   +1 more source

PARP inhibitors elicit distinct transcriptional programs in homologous recombination competent castration‐resistant prostate cancer

open access: yesMolecular Oncology, EarlyView.
PARP inhibitors are used to treat a small subset of prostate cancer patients. These studies reveal that PARP1 activity and expression are different between European American and African American prostate cancer tissue samples. Additionally, different PARP inhibitors cause unique and overlapping transcriptional changes, notably, p53 pathway upregulation.
Moriah L. Cunningham   +21 more
wiley   +1 more source

A novel human glucocorticoid receptor SNP results in increased transactivation potential. [PDF]

open access: yes, 2017
Glucocorticoids are one of the most widely used therapeutics in the treatment of a variety of inflammatory disorders. However, it is known that there are variable patient responses to glucocorticoid treatment; there are responders and non-responders, or ...
Cho, Kiho   +5 more
core   +3 more sources

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

open access: yesPLoS ONE, 2017
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding ...
S. Viswanathan   +9 more
semanticscholar   +1 more source

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

open access: yesMolecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira   +14 more
wiley   +1 more source

Skeletal health in DYRK1A syndrome

open access: yesFrontiers in Neuroscience
DYRK1A syndrome results from a reduction in copy number of the DYRK1A gene, which resides on human chromosome 21 (Hsa21). DYRK1A has been implicated in the development of cognitive phenotypes associated with many genetic disorders, including Down ...
Elysabeth D. Otte, Randall J. Roper
doaj   +1 more source

De novo transcriptome assembly reveals sex-specific selection acting on evolving neo-sex chromosomes in Drosophila miranda. [PDF]

open access: yes, 2014
BackgroundThe Drosophila miranda neo-sex chromosome system is a useful resource for studying recently evolved sex chromosomes. However, the neo-Y genomic assembly is fragmented due to the accumulation of repetitive sequence.
Bachtrog, Doris, Kaiser, Vera B
core   +2 more sources

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