Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease (Q21710709)

7 February 2023

Michael N Weedon

1

Michael N

Weedon

1 reference

7 February 2023

Sian Ellard

11

Sian

Ellard

1 reference

7 February 2023

10

Ruth Newbury-Ecob

Ruth

Newbury-Ecob

1 reference

7 February 2023

5

Konrad

Paszkiewicz

Konrad Paszkiewicz

1 reference

7 February 2023

Robert Hastings

2

Robert

Hastings

1 reference

7 February 2023

Weijia Xie

4

Weijia

Xie

1 reference

7 February 2023

Thalia Antoniadi

6

Thalia

Antoniadi

1 reference

7 February 2023

Maggie Williams

7

Maggie

Williams

1 reference

7 February 2023

Cath King

8

Cath

King

1 reference

7 February 2023

Lynn Greenhalgh

9

Lynn

Greenhalgh

1 reference

American Journal of Human Genetics

7 February 2023

language of work or name

English

0 references

publication date

12 August 2011

0 references

published in

0 references

volume

89

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issue

2

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page(s)

308-12

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cites work

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

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The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Neuromuscular junction defects in mice with mutation of dynein heavy chain 1.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

A cytoplasmic dynein tail mutation impairs motor processivity

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Update on Charcot-Marie-Tooth disease.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Cytoplasmic dynein could be key to understanding neurodegeneration

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Golgi vesiculation and lysosome dispersion in cells lacking cytoplasmic dynein.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Mutations in dynein link motor neuron degeneration to defects in retrograde transport

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Mutant dynactin in motor neuron disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155164

Distinct but overlapping sites within the cytoplasmic dynein heavy chain for dimerization and for intermediate chain and light intermediate chain binding

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21820100

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.07.002

1 reference

release_ooszat4b6fdwhkirtvsotb2q7q

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ooszat4b6fdwhkirtvsotb2q7q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

1 reference

1 reference