Platelet studies in autism spectrum disorder patients and first-degree relatives.
Leuven, Belgium. In Mol Autism, 2014
Altered platelet dense granule morphology was previously reported in three autism spectrum disorder (ASD) patients with chromosomal translocations that disrupted ASD candidate genes NBEA, SCAMP5, and AMYSIN, but a systematic analysis of platelet function in ASD is lacking in contrast to numerous reports of elevated serotonin levels in platelets and blood as potential biomarker for ASD.
Non-random inactivation of large common fragile site genes in different cancers.
Rochester, United States. In Cytogenet Genome Res, 2006
To determine if there was selection for the inactivation of different large CFS genes in different cancers, we examined the expression of 13 of the 20 known large CFS genes: FHIT, WWOX, PARK2, GRID2, NBEA, DLG2, RORA isoforms 1 and 4, DAB1, CNTNAP2, DMD, IL1RAPL1, IMMP2L and LARGE in breast, ovarian, endometrial and brain cancers using real-time RT-PCR analysis.
Neurobeachin is essential for neuromuscular synaptic transmission.
Philadelphia, United States. In J Neurosci, 2004
Nbea-null mice suffered block of evoked synaptic transmission at neuromuscular junctions, whereas nerve conduction, synaptic structure and synaptic vesicle release were normal supporting a neurotransmitter release role of Nbea at neuromuscular junctions