Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.03.022
Abstract: We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spasticity, and ten… read more here.
Keywords: human neurons; actl6b cause; loss; allelic mutations ... See more keywords
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2018.00529
Abstract: The ability of cytotoxic lymphocytes (CL) to eliminate virus-infected or cancerous target cells through the granule exocytosis death pathway is critical to immune homeostasis. Congenital loss of CL function due to bi-allelic mutations in PRF1,… read more here.
Keywords: cytotoxic; role stxbp1; allelic mutations; mutations stxbp2 ... See more keywords