|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
DNM1 encephalopathy: A new disease of vesicle fission.
|
28667181 |
2017 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
|
26648591 |
2016 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
De novo DNM1 mutations in two cases of epileptic encephalopathy.
|
26611353 |
2016 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
|
25262651 |
2014 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
|
23092955 |
2013 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Building a fission machine--structural insights into dynamin assembly and activation.
|
23781021 |
2013 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Dynamin, a membrane-remodelling GTPase.
|
22233676 |
2012 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.
|
22099461 |
2011 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
|
21441247 |
2011 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The crystal structure of dynamin.
|
21927001 |
2011 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.
|
21926968 |
2011 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.
|
20700442 |
2010 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mitochondrial fusion and fission in cell life and death.
|
21102612 |
2010 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
G domain dimerization controls dynamin's assembly-stimulated GTPase activity.
|
20428113 |
2010 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.
|
19633650 |
2009 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
|
19502294 |
2009 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A class of dynamin-like GTPases involved in the generation of the tubular ER network.
|
19665976 |
2009 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.
|
18250322 |
2008 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A lethal defect of mitochondrial and peroxisomal fission.
|
17460227 |
2007 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.
|
17463283 |
2007 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
|
15731758 |
2005 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
|
14985377 |
2004 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
OPA1 requires mitofusin 1 to promote mitochondrial fusion.
|
15509649 |
2004 |
|
rs1554767317
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.
|
12509422 |
2003 |