Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. (Q37111771)

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9 November 2019

title

Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism (English)

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9 November 2019

2

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9 November 2019

Makoto Otsu

3

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9 November 2019

author name string

T Wada

1

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9 November 2019

E K Garabedian

4

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9 November 2019

H D Ochs

5

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9 November 2019

D L Nelson

6

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9 November 2019

F Candotti

7

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9 November 2019

language of work or name

English

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publication date

10 July 2001

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Proceedings of the National Academy of Sciences of the United States of America

9 November 2019

published in

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9 November 2019

volume

98

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9 November 2019

issue

15

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9 November 2019

page(s)

8697-8702

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

9 November 2019

cites work

1 reference

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DNA repeat expansions and human disease

14 September 2017

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Actin cytoskeletal function is spared, but apoptosis is increased, in WAS patient hematopoietic cells.

14 September 2017

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Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor.

14 September 2017

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Spontaneous apoptosis in lymphocytes from patients with Wiskott-Aldrich syndrome: correlation of accelerated cell death and attenuated bcl-2 expression

14 September 2017

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Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes

14 September 2017

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.

14 September 2017

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

14 September 2017

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

14 September 2017

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

14 September 2017

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Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

14 September 2017

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Studies of the expression of the Wiskott-Aldrich syndrome protein

14 September 2017

1 reference

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T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses.

14 September 2017

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

14 September 2017

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A multiinstitutional survey of the Wiskott-Aldrich syndrome.

14 September 2017

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Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=37498

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

14 September 2017

1 reference

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

14 September 2017

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The structure and evolution of the human beta-globin gene family

14 September 2017

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

14 September 2017

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Carrier detection in the Wiskott Aldrich syndrome

14 September 2017

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

14 September 2017

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

29 September 2017

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Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells

29 September 2017

1 reference

https://api.crossref.org/works/10.1073/PNAS.151260498

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

21 January 2018

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The Wiskott-Aldrich syndrome

21 January 2018

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Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

21 January 2018

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Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

21 January 2018

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Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods

21 January 2018

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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

21 January 2018

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Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11447283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of T-cell repertoire of the bone marrow in immune-mediated aplastic anemia: evidence for the involvement of antigen-driven T-cell response in cyclosporine-dependent aplastic anemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11447283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-formin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11447283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.151260498

1 reference

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9 November 2019

0 references

1 reference

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9 November 2019

PubMed publication ID

11447283

1 reference