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- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Academic Article
- A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. Academic Article
- Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. Academic Article
- Body-wall muscle formation in Caenorhabditis elegans embryos that lack the MyoD homolog hlh-1.
- Cerebellar defects in Ca2+/calmodulin kinase IV-deficient mice. Academic Article
- Cerebral protection in homozygous null ICAM-1 mice after middle cerebral artery occlusion. Role of neutrophil adhesion in the pathogenesis of stroke. Academic Article
- Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Academic Article
- Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.
- Genomic imprinting of Mash2, a mouse gene required for trophoblast development. Academic Article
- Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Academic Article
- Hippocampal long-term potentiation is normal in heme oxygenase-2 mutant mice. Academic Article
- Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Academic Article
- Identification of a Pax6-dependent epidermal growth factor family signaling source at the lateral edge of the embryonic cerebral cortex. Academic Article
- Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels.
- Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia. Academic Article
- No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study. Academic Article
- Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Academic Article
- Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. Academic Article
- Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. Academic Article
- Reelin-mediated signaling locally regulates protein kinase B/Akt and glycogen synthase kinase 3beta. Academic Article
- The dual developmental origin of spinal cerebrospinal fluid-contacting neurons gives rise to distinct functional subtypes. Academic Article
- UNC-11, a Caenorhabditis elegans AP180 homologue, regulates the size and protein composition of synaptic vesicles. Academic Article