Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. (Q36856483)

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16 February 2020

title

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome (English)

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Catherine Koch

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16 February 2020

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Olga S Koutsopoulos

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Christine Kretz

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Claudia M Weller

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Aurelien Roux

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Halina Mojzisova

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Anne Toussaint

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Emilie Heckel

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Daphne Stemkens

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Simone A J Ter Horst

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Muriel Koch

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Syed Q Mehdi

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Emilia K Bijlsma

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Julien Vermot

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Jocelyn Laporte

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publication date

24 October 2012

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European Journal of Human Genetics

16 February 2020

published in

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volume

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issue

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page(s)

637-642

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

16 February 2020

cites work

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Dynamin, a membrane-remodelling GTPase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

Fetal akinesia: review of the genetics of the neuromuscular causes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

Common membrane trafficking defects of disease-associated dynamin 2 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

G domain dimerization controls dynamin's assembly-stimulated GTPase activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

29 September 2017

1 reference

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

29 September 2017

1 reference

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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

Mutations in dynamin 2 cause dominant centronuclear myopathy

29 September 2017

1 reference

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

29 September 2017

1 reference

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The dynamin superfamily: universal membrane tubulation and fission molecules?

29 September 2017

1 reference

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Induction of mutant dynamin specifically blocks endocytic coated vesicle formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

29 September 2017

1 reference

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Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic

29 September 2017

1 reference

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Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination

27 June 2018

1 reference

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Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

Disruption of Golgi structure and function in mammalian cells expressing a mutant dynamin.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658203

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

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.226

21 January 2018

Congenital myopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23092955

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23092955

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.226

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16 February 2020

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16 February 2020

PubMed publication ID

23092955

1 reference

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