Sort   by:  
 Page size 
UnknownDe novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
Not available
S-EPMC12327483 | biostudies-literature
TranscriptomicsDual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system
This SuperSeries is composed of the following subset Series: GSE40506: Genome-wide mapping of Olig2 targets in primary oligodendrocytes GSE40510: Expression data from Sip1 cKO and control mice spinal cord Refer to individual Series
ORGANISM(S): Mus musculus 
2012-08-31 | E-GEOD-40431 | biostudies-arrayexpress
GenomicsGenome-wide mapping of Olig2 targets in primary oligodendrocytes
Myelination by oligodendrocytes in the central nervous system (CNS) is essential for proper brain function, yet the molecular determinants that control this process remain poorly understood. The basic helix-loop-helix transcription factors Olig1 and Olig2 promote myelination, whereas bone morphogene...
ORGANISM(S): Rattus norvegicus 
2012-08-31 | E-GEOD-40506 | biostudies-arrayexpress
TranscriptomicsExpression data from Sip1 cKO and control mice spinal cord
Myelination by oligodendrocytes in the central nervous system (CNS) is essential for proper brain function, yet the molecular determinants that control this process remain poorly understood. The basic helix-loop-helix transcription factors Olig1 and Olig2 promote myelination, whereas bone morphogene...
ORGANISM(S): Mus musculus 
2012-08-31 | E-GEOD-40510 | biostudies-arrayexpress
GenomicsEpi4K: Gene Discovery in 4,000 Epilepsy Genomes

The Epi4K project began in 2011 as an international, multi-center study that seeks to identify and characterize the genetic bases of complex epilepsies. The Center without Walls Epi4K project includes three cores and four scientific projects, as well as a steering committee comprised of the prima...

phs000653.v1.p1 | EGA
GenomicsCIDR Whole Exome Sequencing in Joubert Syndrome

The purpose of this study is to identify new genetic causes of neurodevelopmental diseases (NDDs) in the Joubert syndrome (JS) spectrum. Joubert syndrome is a recessive disease characterized by cerebellar vermis hypoplasia. Our currently funded NINDS award entitled "Molecular characterization of ...

phs000382.v1.p1 | EGA
UnknownBasic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.
Not available
S-EPMC11537320 | biostudies-literature
UnknownUnique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Not available
S-EPMC8387284 | biostudies-literature
UnknownATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Not available
S-EPMC10319782 | biostudies-literature
UnknownCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Not available
S-EPMC1950920 | biostudies-literature
Sort   by:  
 Page size