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Tag: Genetics

A novel signal has been identified that is associated with microalbuminuria in Europeans with type 2 diabetes

Novel Signal ID’d for Microalbuminuria in Europeans With T2DM

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Genome-wide association study identified novel signal near GABRR1, which was not seen in Asians
Specific demographic groups have lower cancer genetic testing

Gender Disparity Observed in Cancer Genetic Testing in the U.S.

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Unaffected men have rate of breast/ovarian cancer testing that is one-tenth that of unaffected women
For patients with severe β-thalassemia

Gene Therapy Found to Be Promising for β-Thalassemia

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CD34+ cells transduced with BB305 vector lowered or eliminated need for red-cell transfusions
Males with BRCA mutations have increased incidence of malignant disease

Males With BRCA Mutations Have Increased Risk of Certain Cancers

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Increased incidence of malignant disease, specifically prostate, melanoma, pancreas, breast cancers
Transcription factors seem to operate across gene loci

TFs Operate Across Gene Loci Within Disease Phenotypes

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Epstein-Barr virus EBNA2 protein binds to multiple loci of genome, increasing risk of 7 serious diseases
Fitness and physical activity are tied to lower risk of incident cardiovascular disease in the general population and among individuals with elevated genetic risk for cardiovascular diseases

Exercise Best Defense for Those at Genetic Risk for CVD

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Benefit of exercise against cardiovascular disease notable even among those at high genetic risk
Using CYP2C19 genotype-guided dual antiplatelet therapy selection is feasible in a real-world setting

Genotype-Guided Antiplatelet Therapy Feasible, Effective

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Genotype-guided therapy improves outcomes among CYP2C19 intermediate, poor metabolizers
A primary mechanism for APOE gene-mediated plaque formation may result from apoE aggregation

apoE Aggregation May Impact apoE-Mediated Plaque Formation

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Anti-human apoE-4 antibody preferentially binds unlipidated aggregated apoE over lipidated version
The complete genome sequence of fetuses can be elucidated from amniotic fluid

Complete Genome Sequence Can Be ID’d From Amniotic Fluid

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Concordance of variant calls between cellular, cell-free DNA, with parental libraries >96 percent
Vigil immunotherapy shows good tolerability for recurrent ovarian cancer patients

Vigil Immunotherapy Tolerated Well for Recurrent Ovarian CA Tx

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And, PARP 7 protein plays significant role; survival up with genetic mutations, higher expression levels