Variant: rs1553749681 

    present in Gene: DOCK3
    present in Chromosome: 3
    Position on Chromosome: 51064514
    Alleles of this Variant: C/T

rs1553749681 in DOCK3 gene and Dysmorphic features PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

PMID 24870542 2014 A draft map of the human proteome.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

rs1553749681 in DOCK3 gene and Movement Disorders PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 24870542 2014 A draft map of the human proteome.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

rs1553749681 in DOCK3 gene and Muscle hypotonia PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 24870542 2014 A draft map of the human proteome.

PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.