Variant: rs1554767317 

    present in Gene: DNM1;CIZ1
    present in Chromosome: 9
    Position on Chromosome: 128203604
    Alleles of this Variant: G/A

rs1554767317 in DNM1;CIZ1 gene and Dysmorphic features PMID 17463283 2007 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

PMID 1674590 1991 Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

PMID 7962076 1994 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 9294229 1997 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

PMID 11553700 2001 Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

PMID 12509422 2003 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

PMID 8290576 1994 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PMID 7877694 1995 Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PMID 14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 8360266 1993 A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

PMID 21102612 2010 Mitochondrial fusion and fission in cell life and death.

PMID 11879655 2002 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

PMID 26611353 2016 De novo DNM1 mutations in two cases of epileptic encephalopathy.

PMID 20428113 2010 G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PMID 19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PMID 15509649 2004 OPA1 requires mitofusin 1 to promote mitochondrial fusion.

PMID 1832879 1991 Predominant and developmentally regulated expression of dynamin in neurons.

PMID 19633650 2009 Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

PMID 1828536 1991 Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.

PMID 18250322 2008 Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 19502294 2009 Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

PMID 7877693 1995 Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.

PMID 10074457 1999 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PMID 6304244 1983 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.

PMID 22233676 2012 Dynamin, a membrane-remodelling GTPase.

PMID 22099461 2011 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

PMID 21927001 2011 The crystal structure of dynamin.

PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PMID 21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 21926968 2011 Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

PMID 23781021 2013 Building a fission machine--structural insights into dynamin assembly and activation.

PMID 28667181 2017 DNM1 encephalopathy: A new disease of vesicle fission.

rs1554767317 in DNM1;CIZ1 gene and Muscle hypotonia PMID 17463283 2007 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

PMID 22233676 2012 Dynamin, a membrane-remodelling GTPase.

PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PMID 21927001 2011 The crystal structure of dynamin.

PMID 14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

PMID 1828536 1991 Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.

PMID 12509422 2003 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

PMID 11879655 2002 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

PMID 7877694 1995 Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 7877693 1995 Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.

PMID 11553700 2001 Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

PMID 21926968 2011 Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

PMID 18250322 2008 Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

PMID 19633650 2009 Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

PMID 21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PMID 19502294 2009 Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

PMID 22099461 2011 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

PMID 26611353 2016 De novo DNM1 mutations in two cases of epileptic encephalopathy.

PMID 1832879 1991 Predominant and developmentally regulated expression of dynamin in neurons.

PMID 23781021 2013 Building a fission machine--structural insights into dynamin assembly and activation.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 28667181 2017 DNM1 encephalopathy: A new disease of vesicle fission.

PMID 21102612 2010 Mitochondrial fusion and fission in cell life and death.

PMID 19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PMID 9294229 1997 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

PMID 20428113 2010 G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 8360266 1993 A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

PMID 6304244 1983 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 1674590 1991 Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

PMID 7962076 1994 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

PMID 10074457 1999 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PMID 15509649 2004 OPA1 requires mitofusin 1 to promote mitochondrial fusion.

PMID 8290576 1994 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.