(Q34134419)

31 July 2017

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

1 reference

31 July 2017

12

Leonard M Milstone

1 reference

31 July 2017

Keith A Choate

1

1 reference

31 July 2017

Yin Lu

2

1 reference

31 July 2017

Jing Zhou

3

1 reference

31 July 2017

Murim Choi

4

1 reference

31 July 2017

Peter M Elias

5

1 reference

31 July 2017

Anita Farhi

6

1 reference

31 July 2017

Carol Nelson-Williams

7

1 reference

31 July 2017

Debra Crumrine

8

1 reference

31 July 2017

Mary L Williams

9

1 reference

31 July 2017

Amy J Nopper

10

1 reference

31 July 2017

Alanna Bree

11

1 reference

31 July 2017

Richard P Lifton

13

1 reference

31 July 2017

language of work or name

English

0 references

publication date

26 August 2010

1 reference

31 July 2017

1 reference

31 July 2017

330

1 reference

31 July 2017

6000

1 reference

31 July 2017

94-97

1 reference

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

1 reference

31 July 2017

1 reference