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Embryonic stem cell-specific MicroRNAs.
The identified microRNAs in undifferentiated and differentiated mouse embryonic stem (ES) cells suggest that miRNAs may have a role in the maintenance of the pluripotent cell state and the regulation of early mammalian development.
siRNA-directed inhibition of HIV-1 infection
It is reported that siRNAs inhibit virus production by targeting the mRNAs for either the HIV-1 cellular receptor CD4, the viral structural Gag protein or green fluorescence protein substituted for the Nef regulatory protein.
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease
Genetic and therapeutic antagonism of ANGPTL3 in humans and of Angptl3 in mice was associated with decreased levels of all three major lipid fractions and decreased odds of atherosclerotic cardiovascular disease.
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
- F. Dewey, V. Gusarova, +23 authors A. Shuldiner
- MedicineThe New England journal of medicine
- 2 March 2016
Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of triglycerides and a lower risk of coronary artery disease than did noncarriers and the inhibition of Angptl4 in mice and monkeys resulted in corresponding reductions in these values.
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
- B. Coste, G. Houge, +17 authors A. Patapoutian
- Biology, MedicineProceedings of the National Academy of Sciences
- 4 March 2013
Two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive lung disease, and variable absence of cruciate knee ligaments are described.
Exploring concordance and discordance for return of incidental findings from clinical sequencing
Specialists were highly concordant for the return of findings for 64 conditions or genes if discovered incidentally during whole-exome sequencing or whole-genome sequencing.
The adult galactosemic phenotype
- S. Waisbren, N. Potter, +29 authors G. Berry
- MedicineJournal of Inherited Metabolic Disease
- 1 March 2012
The hypothesis that galactosemia is a progressive neurodegenerative disease is not supported, however, greater attention to depression, anxiety, and social relationships may relieve the impact of this disorder in adults.
Implementing genomic medicine in the clinic: the future is here
The National Human Genome Research Institute brought together a number of institutions to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere.
A public resource facilitating clinical use of genomes
- M. Ball, J. Thakuria, +42 authors G. Church
- Medicine, Computer ScienceProceedings of the National Academy of Sciences
- 13 July 2012
A peer production system for recording and organizing variant evaluations according to standard evidence guidelines is developed, creating a public forum for reaching consensus on interpretation of clinically relevant variants.
The Geisinger MyCode Community Health Initiative: an electronic health record-linked biobank for Precision Medicine research
- D. Carey, Samantha N. Fetterolf, +7 authors D. Ledbetter
- MedicineGenetics in Medicine
- 18 November 2015
The MyCode project has created resources that enable a new model for translational research that is faster, more flexible, and more cost-effective than traditional clinical research approaches.