Diseases, Conditions, Syndromes

Bone fragility variants linked to concordant pediatric skeleton

(HealthDay)—Established bone fragility variants are associated with a concordant phenotypic model of the pediatric skeleton but not with discordant phenotypic models, according to a study published online Dec. 14 in the ...

Medical research

Study explores in vivo role of ubiquinone in mouse model

(HealthDay)—Ubiquinone (UQ) does not act as an antioxidant in vivo, and partial restoration of UQ levels and mitochondrial function can reverse severe disease phenotypes and shortened lifespan, according to an experimental ...

Medical research

Protecting against aging at the molecular level

Research from Western University and Lawson Health Research Institute sheds new light on a gene called ATRX and its function in the brain and pituitary. Children born with ATRX syndrome have cognitive defects and developmental ...

Genetics

Candidate drug provides benefit in SMA animal models

In a new publication that appears in Human Molecular Genetics, the laboratory of Christine DiDonato, PhD reports on their pharmacological characterization of the drug RG3039, demonstrating that it can extend survival and ...

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