Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. (Q30413900)

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25 January 2020

title

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant centronuclear myopathy

25 January 2020

main subject

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genotype-phenotype correlation

1 reference

1 reference

1

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Johann Bohm

2

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Marc Bitoun

5

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publication date

4 April 2012

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25 January 2020

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25 January 2020

volume

33

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25 January 2020

issue

6

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25 January 2020

page(s)

949-959

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Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

25 January 2020

cites work

1 reference

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Crystal structure of nucleotide-free dynamin

20 June 2018

1 reference

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Common membrane trafficking defects of disease-associated dynamin 2 mutations

20 June 2018

1 reference

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Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

20 June 2018

1 reference

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Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

20 June 2018

1 reference

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

20 June 2018

1 reference

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Direct dynamin-actin interactions regulate the actin cytoskeleton

20 June 2018

1 reference

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Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

20 June 2018

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Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

20 June 2018

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Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

20 June 2018

1 reference

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Centronuclear myopathies: a widening concept

20 June 2018

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Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits

20 June 2018

1 reference

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An intramolecular signaling element that modulates dynamin function in vitro and in vivo

20 June 2018

1 reference

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

20 June 2018

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20 June 2018

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Endosomal phosphoinositides and human diseases

20 June 2018

1 reference

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

20 June 2018

1 reference

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A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

20 June 2018

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Dynamin as a mover and pincher during cell migration and invasion

20 June 2018

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Mutations in dynamin 2 cause dominant centronuclear myopathy

20 June 2018

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

20 June 2018

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The dynamin superfamily: universal membrane tubulation and fission molecules?

20 June 2018

1 reference

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Dynamin2 and cortactin regulate actin assembly and filament organization.

20 June 2018

1 reference

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Expression and purification of dynamin II domains and initial studies on structure and function

20 June 2018

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UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

20 June 2018

1 reference

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Dynamin 2 is required for phagocytosis in macrophages

20 June 2018

1 reference

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Impairment of dynamin's GAP domain stimulates receptor-mediated endocytosis

20 June 2018

1 reference

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Ubiquitously expressed dynamin-II has a higher intrinsic GTPase activity and a greater propensity for self-assembly than neuronal dynamin-I

20 June 2018

1 reference

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

20 June 2018

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Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

20 June 2018

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Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation

21 January 2018

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Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

21 January 2018

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The Pleckstrin Homology Domains of Dynamin Isoforms Require Oligomerization for High Affinity Phosphoinositide Binding

21 January 2018

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Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22067

Role of dynamin in the formation of transport vesicles from the trans-Golgi network

21 January 2018

1 reference

12 December 2020

1 reference

12 December 2020

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

1 reference

12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

12 December 2020

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

1 reference

12 December 2020

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

1 reference

12 December 2020

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

1 reference

12 December 2020

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

1 reference

12 December 2020

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22067

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

PubMed publication ID

22396310

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22396310%20AND%20SRC:MED&resulttype=core&format=json