|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
G domain dimerization controls dynamin's assembly-stimulated GTPase activity.
|
20428113 |
2010 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.
|
1828536 |
1991 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.
|
1674590 |
1991 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.
|
10074457 |
1999 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial fusion and fission in cell life and death.
|
21102612 |
2010 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo DNM1 mutations in two cases of epileptic encephalopathy.
|
26611353 |
2016 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
DNM1 encephalopathy: A new disease of vesicle fission.
|
28667181 |
2017 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
|
14985377 |
2004 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Predominant and developmentally regulated expression of dynamin in neurons.
|
1832879 |
1991 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
OPA1 requires mitofusin 1 to promote mitochondrial fusion.
|
15509649 |
2004 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dynamin, a membrane-remodelling GTPase.
|
22233676 |
2012 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
|
23092955 |
2013 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.
|
22099461 |
2011 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
|
25262651 |
2014 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.
|
21926968 |
2011 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.
|
19633650 |
2009 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.
|
8290576 |
1994 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.
|
12509422 |
2003 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.
|
7962076 |
1994 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
|
21441247 |
2011 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.
|
7877694 |
1995 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.
|
11553700 |
2001 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A lethal defect of mitochondrial and peroxisomal fission.
|
17460227 |
2007 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
|
26648591 |
2016 |
|
rs1554767313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.
|
9294229 |
1997 |