Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings (Q34984944)

5 August 2017

title

Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings (English)

1 reference

5 August 2017

1 reference

Wiskott-Aldrich syndrome

1 reference

8

Fabio Candotti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

29 December 2023

4

Elizabeth K. Garabedian

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

29 December 2023

author name string

Taizo Wada

1

1 reference

5 August 2017

Akihiro Konno

2

1 reference

5 August 2017

Martha Kirby

6

1 reference

5 August 2017

Shepherd H. Schurman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

29 December 2023

Stacie M. Anderson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

29 December 2023

David L. Nelson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

29 December 2023

language of work or name

English

0 references

publication date

1 May 2003

1 reference

full work available at URL

5 August 2017

http://www.jci.org/articles/view/15485/files/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

https://europepmc.org/articles/PMC154438

29 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

https://europepmc.org/articles/PMC154438?pdf=render

29 December 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

https://doi.org/10.1172/jci200315485

29 December 2023

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12727931

http://www.jci.org/articles/view/15485/files/pdf

29 December 2023

1 reference

https://api.crossref.org/works/10.1172/JCI15485

Journal of Clinical Investigation

29 December 2023

published in

1 reference

5 August 2017

volume

111

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5 August 2017

issue

9

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5 August 2017

page(s)

1389-1397

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Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T-cell dysfunction

5 August 2017

cites work

1 reference

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Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy

8 July 2018

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8 July 2018

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Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

8 July 2018

1 reference

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T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation

8 July 2018

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Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

8 July 2018

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

8 July 2018

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Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

8 July 2018

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Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein

8 July 2018

1 reference

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Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.

8 July 2018

1 reference

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The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization

8 July 2018

1 reference

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

8 July 2018

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Development of improved adenosine deaminase retroviral vectors

8 July 2018

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Structural and functional basis for JAK3-deficient severe combined immunodeficiency

8 July 2018

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Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation.

8 July 2018

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Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

8 July 2018

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Studies of the expression of the Wiskott-Aldrich syndrome protein

8 July 2018

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Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus

8 July 2018

1 reference

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

8 July 2018

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Self-induced correction of the genetic defect in tyrosinemia type I

8 July 2018

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Interleukin-2-transduced lymphocytes grow in an autocrine fashion and remain responsive to antigen.

8 July 2018

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The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene

8 July 2018

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Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome

8 July 2018

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

8 July 2018

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Slipped-strand mispairing: a major mechanism for DNA sequence evolution

8 July 2018

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Carrier detection in the Wiskott Aldrich syndrome

8 July 2018

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8 July 2018

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8 July 2018

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Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

26 October 2018

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The Wiskott-Aldrich syndrome

9 December 2018

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12 December 2020

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12 December 2020

A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene

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12 December 2020

X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect

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12 December 2020

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12 December 2020

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Molecular Biology and Evolution

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Levinson

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29 December 2023

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29 December 2023

Identifiers

DOI

10.1172/JCI15485

1 reference

5 August 2017

1 reference

5 August 2017

1 reference