|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
DNM1 encephalopathy: A new disease of vesicle fission.
|
28667181 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A class of dynamin-like GTPases involved in the generation of the tubular ER network.
|
19665976 |
2009 |
|
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 |
A lethal defect of mitochondrial and peroxisomal fission.
|
17460227 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.
|
20700442 |
2010 |
|
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 |
A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.
|
17463283 |
2007 |
|
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 |
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 |
De novo DNM1 mutations in two cases of epileptic encephalopathy.
|
26611353 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
|
25262651 |
2014 |
|
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 |
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 |
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
|
23092955 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.
|
11553700 |
2001 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.
|
7877694 |
1995 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dynamin, a membrane-remodelling GTPase.
|
22233676 |
2012 |
|
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 |
G domain dimerization controls dynamin's assembly-stimulated GTPase activity.
|
20428113 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.
|
19633650 |
2009 |
|
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 |
Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.
|
8290576 |
1994 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.
|
7962076 |
1994 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
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 |