Structure, function, and pharmacology of glutamate receptor ion channels
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
Runs of homozygosity: windows into population history and trait architecture
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
CADM2 is implicated in impulsive personality and numerous other traits by genome- and phenome-wide association studies in humans and mice
S Sanchez-Roige, MV Jennings, HHA Thorpe… - Translational …, 2023 - nature.com
Impulsivity is a multidimensional heritable phenotype that broadly refers to the tendency to
act prematurely and is associated with multiple forms of psychopathology, including …
act prematurely and is associated with multiple forms of psychopathology, including …
New roles for mitochondrial proteases in health, ageing and disease
Recent advances in mitochondrial biology have revealed the high diversity and complexity
of proteolytic enzymes that regulate mitochondrial function. We have classified mitochondrial …
of proteolytic enzymes that regulate mitochondrial function. We have classified mitochondrial …
The genetic landscapes of autism spectrum disorders
G Huguet, E Ey, T Bourgeron - Annual review of genomics and …, 2013 - annualreviews.org
The autism spectrum disorders (ASD) are characterized by impairments in social interaction
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …
Using whole-exome sequencing to identify inherited causes of autism
Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex …
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex …
Long neural genes harbor recurrent DNA break clusters in neural stem/progenitor cells
Repair of DNA double-strand breaks (DSBs) by non-homologous end joining is critical for
neural development, and brain cells frequently contain somatic genomic variations that …
neural development, and brain cells frequently contain somatic genomic variations that …
Autism genetics
AM Persico, V Napolioni - Behavioural brain research, 2013 - Elsevier
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …
Individual common variants exert weak effects on the risk for autism spectrum disorders
While it is apparent that rare variation can play an important role in the genetic architecture
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …
Ionotropic GABA and glutamate receptor mutations and human neurologic diseases
The advent of whole exome/genome sequencing and the technology-driven reduction in the
cost of next-generation sequencing as well as the introduction of diagnostic-targeted …
cost of next-generation sequencing as well as the introduction of diagnostic-targeted …