Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA psychiatry"
DOI: 10.1001/jamapsychiatry.2019.3779
Abstract: Importance Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making… read more here.
Keywords: association; 15q11 bp1; region; bp1 bp2 ... See more keywords
4E‐BP1 and 4E‐BP2 double knockout mice are protected from aging‐associated sarcopenia
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cachexia, Sarcopenia and Muscle"
DOI: 10.1002/jcsm.12412
Abstract: Sarcopenia is the loss of muscle mass/function that occurs during the aging process. The links between mechanistic target of rapamycin (mTOR) activity and muscle development are largely documented, but the role of its downstream targets… read more here.
Keywords: bp2 double; bp1 bp2; muscle; knockout mice ... See more keywords
Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Intellectual Disability Research"
DOI: 10.1111/jir.12382
Abstract: BACKGROUND The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when… read more here.
Keywords: bp1 bp2; 15q11 bp1; disorder; microdeletion ... See more keywords