|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.
|
22099461 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.
|
12509422 |
2003 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
|
21441247 |
2011 |
|
Muscle hypotonia
|
|
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 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The crystal structure of dynamin.
|
21927001 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.
|
6304244 |
1983 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
DNM1 encephalopathy: A new disease of vesicle fission.
|
28667181 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
|
26648591 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Building a fission machine--structural insights into dynamin assembly and activation.
|
23781021 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.
|
1674590 |
1991 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A lethal defect of mitochondrial and peroxisomal fission.
|
17460227 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.
|
1828536 |
1991 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
|
23092955 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mitochondrial fusion and fission in cell life and death.
|
21102612 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
|
15731758 |
2005 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.
|
9294229 |
1997 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
|
14985377 |
2004 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.
|
21926968 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Predominant and developmentally regulated expression of dynamin in neurons.
|
1832879 |
1991 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.
|
11879655 |
2002 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.
|
8360266 |
1993 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.
|
10074457 |
1999 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.
|
7877693 |
1995 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dynamin, a membrane-remodelling GTPase.
|
22233676 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.
|
17463283 |
2007 |