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Down syndrome cell adhesion molecule

Dscam, CHD2
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, OUT, AGE, Chordin
Papers on Dscam
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Eichler et al., Seattle, United States. In Am J Hum Genet, Feb 2016
This effect was only observed within 50 kb of genes that have been previously associated with autism risk, including genes where dosage sensitivity has already been established by recurrent disruptive de novo protein-coding mutations (ARID1B, SCN2A, NR3C2, PRKCA, and DSCAM).
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
Renieri et al., Siena, Italy. In Brain Dev, Feb 2016
We performed an exome sequencing analysis on one twin and her parents and identified a CHD2 mutation, previously described in association with a phenotypic spectrum overlapping our patients' phenotype.
Motor hypertonia and lack of locomotor coordination in mutant mice lacking DSCAM.
Bretzner et al., Laval, France. In J Neurophysiol, Jan 2016
UNASSIGNED: Down Syndrome Cell Adherence Molecule (DSCAM) contributes to the normal establishment and maintenance of neural circuits.
CHD2-Related Neurodevelopmental Disorders
Mefford et al., Seattle, United States. In Unknown Journal, Jan 2016
CLINICAL CHARACTERISTICS: CHD2-related neurodevelopmental disorders are characterized by early-onset epileptic encephalopathy (i.e., refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity).
Novel axon projection after stress and degeneration in the Dscam mutant retina.
Fuerst et al., Rochester, United States. In Mol Cell Neurosci, Jan 2016
UNASSIGNED: The Down syndrome cell adhesion molecule gene (Dscam) is required for normal dendrite patterning and promotes developmental cell death in the mouse retina.
Role of DSCAM in the development of the spinal locomotor and sensorimotor circuits.
Bretzner et al., Laval, France. In J Neurophysiol, Jan 2016
Several studies in invertebrates and vertebrates have argued that the Down Syndrome Cell Adhesion Molecule (DSCAM) would play an important role in the normal development of neural circuits through cell spacing and targeting, axonal and dendritic branching, and synapse establishment and maintenance.
Somatic and Germline Diversification of a Putative Immunoreceptor within One Phylum: Dscam in Arthropods.
Du Pasquier et al., Basel, Switzerland. In Results Probl Cell Differ, 2014
Arthropod Dscam, the homologue of the human Down Syndrome cell adhesion molecule, is a receptor used by the nervous and immune systems.
Review of Dscam-mediated immunity in shrimp and other arthropods.
Wang et al., Tainan City, Taiwan. In Dev Comp Immunol, 2014
However, while vertebrate antibodies have no invertebrate homolog, the Down syndrome cell adhesion molecule (Dscam), which is a hypervariable protein created by alternative splicing, can function as a pathogen-specific recognizing molecule in arthropods.
Roles for DSCAM and DSCAML1 in central nervous system development and disease.
Montesinos, In Adv Neurobiol, 2013
In Drosophila, Dscam proteins are involved in neuronal wiring, while in vertebrates, the role of these cell adhesion molecules in neurogenesis, dendritogenesis, axonal outgrowth, synaptogenesis, and synaptic plasticity is only just beginning to be understood.
Netrins and their roles in placental angiogenesis.
de Mazancourt et al., Montigny-le-Bretonneux, France. In Biomed Res Int, 2013
These opposite effects appear to be related to the endothelial cell phenotype studied and seem also to depend on the receptor type to which netrin binds, that is, the canonical receptor member of the DCC family, the members of the UNC5 family, or the noncanonical receptor members of the integrin family or DSCAM.
De novo mutations in epileptic encephalopathies.
Winawer et al., In Nature, 2013
Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L.
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Mefford et al., Seattle, United States. In Nat Genet, 2013
We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively.
Protocadherins mediate dendritic self-avoidance in the mammalian nervous system.
Sanes et al., Cambridge, United States. In Nature, 2012
In many respects, our results mirror those reported for Dscam1 (Down syndrome cell adhesion molecule) in Drosophila: this complex gene encodes thousands of recognition molecules that exhibit stochastic expression and isoform-specific interactions, and mediate both self-avoidance and self/non-self discrimination.
Down syndrome cell adhesion molecule (DSCAM) associates with uncoordinated-5C (UNC5C) in netrin-1-mediated growth cone collapse.
Liu et al., Toledo, United States. In J Biol Chem, 2012
knockdown of DSCAM inhibits netrin-induced tyrosine phosphorylation of UNC5C and Fyn as well as the interaction of UNC5C with Fyn. The double knockdown of both receptors abolishes the induction of Fyn tyrosine phosphorylation by netrin-1
Chd2 interacts with H3.3 to determine myogenic cell fate.
Ohkawa et al., Fukuoka, Japan. In Embo J, 2012
The data indicated that MyoD determines cell fate and facilitates differentiation- dependent gene expression through Chd2-dependent deposition of H3.3 at myogenic loci prior to differentiation.
Neuronal clustering and fasciculation phenotype in Dscam- and Bax-deficient mouse retinas.
Reese et al., Santa Barbara, United States. In J Comp Neurol, 2012
somal clustering and fasciculation observed in the Dscam mutant retina are not unique to Dscam deficiency and are manifested distinctively by different retinal cell types.
Complementary chimeric isoforms reveal Dscam1 binding specificity in vivo.
Zipursky et al., Los Angeles, United States. In Neuron, 2012
The data of this study deministrated that recognition between Dscam1 isoforms on neurites of the same cell provides the molecular basis for self-avoidance.
Association study of IL-17RC, CHL1, DSCAM and CNTNAP2 genes polymorphisms with adolescent idiopathic scoliosis susceptibility in a Chinese Han population.
Qiu et al., Nanjing, China. In Stud Health Technol Inform, 2011
Overall, our study found a significant association of IL-17RC gene polymorphisms with AIS in a Chinese Han population, indicating IL-17RC gene may be as a susceptibility gene for AIS.
Robust discrimination between self and non-self neurites requires thousands of Dscam1 isoforms.
Zipursky et al., Los Angeles, United States. In Nature, 2009
thousands of Dscam isoforms are essential to provide neurons with a robust discrimination mechanism to distinguish between self and non-self during self-avoidance
CH stretching excitation in the early barrier F + CHD3 reaction inhibits CH bond cleavage.
Liu et al., Taipei, Taiwan. In Science, 2009
Rather counterintuitively, we find that the vibration hinders the overall reaction rate, inhibits scission of the excited bond itself (favoring the DF + CHD2 product channel), and influences the coproduct vibrational distribution despite being conserved in the CHD2 product.
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