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MetabolomicsMetabolic abnormalities of the cortico-striato-thalamo-cortical circuit of rats with tic disorder

Tic disorder (TD) is a developmental neuropsychiatric disorder that primarily occurs during childhood and impacts the quality of life and psychosocial function of patients. The pathogenesis of TD involves the dysregulation of the cortico-striato-thalamo-cortical (CSTC) circuit and metabolic abnor...

2025-03-18 | MTBLS11764 | MetaboLights
ProteomicsTMX2 is a key regulator of cellular redox state and its dysfunction causes severe brain developmental abnormalities.
The redox state of the neural progenitors regulates physiological processes such as neuronal differentiation, dendritic and axonal growth. The relevance of ER-associated oxidoreductases in these processes is largely unexplored. We describe a severe neurological disorder caused by biallelic loss of f...
ORGANISM(S): Homo sapiens (Human) 
2019-11-19 | PXD014064 | Pride
Tmx2 Brain developmental abnormalities Redox state 
GenomicGenetics of Human Developmental Brain Disorders

Developmental brain malformations are at the core of significant neurological diseases affecting many families in the United States and around the world. It is known that epilepsy, specific learning deficits and intellectual disability, cerebral palsy, and abnormalities of brain volume can be att...

phs000492 | dbGaP
TranscriptomicsTranscriptomic analysis of autistic brain reveals convergent molecular pathology [high-throughput sequence data]
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental condition characterized by marked genetic heterogeneity. Thus, a fundamental question is whether autism represents an aetiologically heterogeneous disorder in which the myriad genetic or environmental risk factors pertur...
ORGANISM(S): Homo sapiens 
2011-07-12 | E-GEOD-30573 | biostudies-arrayexpress
GenomicsGenetics of Human Developmental Brain Disorders
Genetics of Human Developmental Brain Disorders
PRJNA160053 | ENA
Transcriptomicsbrain expression data from adult mice prenatally exposed to ethanol
Moderate alcohol consumption during pregnancy can result in a heterogeneous range of neurobehavioural and cognitive effects, termed fetal alcohol spectrum disorders (FASD). We have developed a mouse moder of FASD that involves moderate ethanol exposure throughout gestation achieved by voluntary mat...
ORGANISM(S): Mus musculus 
2011-12-10 | E-GEOD-34305 | biostudies-arrayexpress
TranscriptomicsGene expression analysis of non-cerebellar portion of Gb5-deficient mice brain
Gb5 is a divergent, evolutionarily-conserved, member of the heterotrimeric G protein b subunit family that is expressed principally in brain and neuronal tissue. Among Gb isoforms, Gb5 is unique in its ability to heterodimerize with members of the R7 subfamily of the regulator of G protein signalin...
ORGANISM(S): Mus musculus 
2011-09-12 | E-GEOD-29082 | biostudies-arrayexpress
UnknownDevelopmental disruptions underlying brain abnormalities in ciliopathies.
Not available
S-EPMC4515781 | biostudies-literature
GenomicDobyns DBD

Study 1
2R01-NS050375 (PI: DOBYNS, William B.)
The genetic basis of mid-hindbrain malformations
Our general goal for this project is to advance our understanding of human developmental disorders that involve the brainstem and cerebellum - brain structures derived from the embryoni...

phs000455 | dbGaP
UnknownBrain parenchymal signal abnormalities associated with developmental venous anomalies in children and young adults.
Not available
S-EPMC7964448 | biostudies-literature
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