Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10 (Q34134419)

31 July 2017

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10 (English)

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31 July 2017

12

Leonard M Milstone

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31 July 2017

Keith A Choate

1

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31 July 2017

Yin Lu

2

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31 July 2017

Jing Zhou

3

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31 July 2017

Murim Choi

4

1 reference

31 July 2017

Peter M Elias

5

1 reference

31 July 2017

Anita Farhi

6

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31 July 2017

Carol Nelson-Williams

7

1 reference

31 July 2017

Debra Crumrine

8

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31 July 2017

Mary L Williams

9

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31 July 2017

Amy J Nopper

10

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31 July 2017

Alanna Bree

11

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31 July 2017

Richard P Lifton

13

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31 July 2017

language of work or name

English

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publication date

26 August 2010

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31 July 2017

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31 July 2017

330

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31 July 2017

6000

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31 July 2017

94-97

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Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Fanconi anemia: causes and consequences of genetic instability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Transcriptional profiling of putative human epithelial stem cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Amino acid requirement for the high affinity binding of a selected arginine-rich peptide with the HIV Rev-response element RNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Characterization and isolation of stem cell-enriched human hair follicle bulge cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Organization of stem cells and their progeny in human epidermis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

In vivo reversion to normal of inherited mutations in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Themes in RNA-protein recognition.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

The spatial relationship between stem cells and their progeny in the basal layer of human epidermis: a new view based on whole-mount labelling and lineage analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Conserved structures and diversity of functions of RNA-binding proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

The Bloom's syndrome gene product is homologous to RecQ helicases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Mutation and cancer: statistical study of retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding of end domain sequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Analysis of the mechanism of assembly of mouse keratin 1/keratin 10 intermediate filaments in vitro suggests that intermediate filaments are built from multiple oligomeric units rather than a unique tetrameric building block

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

An unexpected role for keratin 10 end domains in susceptibility to skin cancer

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.1192280

Suppression of ocular neovascularization with siRNA targeting VEGF receptor 1.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.1192280

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085938

Revertant somatic mosaicism in the Wiskott-Aldrich syndrome

28 October 2018

1 reference

12 December 2020

Revertant mosaicism in recessive dystrophic epidermolysis bullosa

1 reference

12 December 2020

[Congenital reticular ichthyosiform erythroderma]

1 reference

12 December 2020

The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer

1 reference

12 December 2020

A case of congenital reticular ichthyosiform erythroderma--ichthyosis 'en confettis'

1 reference

12 December 2020

Identifiers

DOI

10.1126/SCIENCE.1192280

1 reference

31 July 2017

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31 July 2017

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