(Q41932839)

14 October 2017

A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice (English)

1 reference

14 October 2017

Kelly D Farwell Hagman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Lea Tuzovic

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Lan Yu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Wenqi Zeng

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Xiang Li

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Hong Lu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Hsiao-Mei Lu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Wendy K Chung

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

14 August 2013

1 reference

Rare diseases (Austin, Tex.)

14 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

e26144

1 reference

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11 June 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Unlocking Mendelian disease using exome sequencing

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Genetic and epigenetic networks in intellectual disabilities.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

A strategy to identify de novo mutations in common disorders such as autism and schizophrenia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Nonmuscle myosin II isoform and domain specificity during early mouse development

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Non-muscle myosin II takes centre stage in cell adhesion and migration

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Nonmuscle myosin II moves in new directions

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Loss of cell adhesion causes hydrocephalus in nonmuscle myosin II-B-ablated and mutated mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Function of the neuron-specific alternatively spliced isoforms of nonmuscle myosin II-B during mouse brain development.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

A point mutation in the motor domain of nonmuscle myosin II-B impairs migration of distinct groups of neurons

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Nonmuscle myosin IIb is involved in the guidance of fibroblast migration

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

A novel myosin heavy chain gene in human chromosome 19q13.3.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Ablation and mutation of nonmuscle myosin heavy chain II-B results in a defect in cardiac myocyte cytokinesis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Structural abnormalities develop in the brain after ablation of the gene encoding nonmuscle myosin II-B heavy chain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Nonmuscle myosin II-B is required for normal development of the mouse heart

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Diagnostic exome sequencing in persons with severe intellectual disability

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

A de novo paradigm for mental retardation.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

Differential expression of non-muscle myosin heavy chain genes during Xenopus embryogenesis.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927488

30 September 2018

Identifiers

DOI

10.4161/RDIS.26144

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

25003005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25003005%20AND%20SRC:MED&resulttype=core&format=json