Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. (Q34472144)

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5 November 2019

title

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells (English)

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5 November 2019

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9

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5 November 2019

author name string

J J Gregory

1

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5 November 2019

J E Wagner

2

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5 November 2019

P C Verlander

3

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5 November 2019

O Levran

4

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5 November 2019

S D Batish

5

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5 November 2019

C R Eide

6

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5 November 2019

A Steffenhagen

7

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5 November 2019

B Hirsch

8

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5 November 2019

language of work or name

English

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publication date

13 February 2001

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

5 November 2019

published in

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volume

98

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5 November 2019

page(s)

2532-2537

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5 November 2019

issue

5

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Isolation of a cDNA representing the Fanconi anemia complementation group E gene

5 November 2019

cites work

1 reference

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Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Retroactive DNA analysis for sex determination and dystrophin gene by polymerase chain reaction with archived cytogenetic slides

6 July 2018

1 reference

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Improving the fixation method for preimplantation genetic diagnosis by fluorescent in situ hybridization

6 July 2018

1 reference

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The Fanconi anaemia group G gene FANCG is identical with XRCC9

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Gene conversion tracts from double-strand break repair in mammalian cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Sequence variation in the Fanconi anemia gene FAA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Positional cloning of the Fanconi anaemia group A gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Slippage--misalignment: to what extent does it contribute to mammalian cell mutagenesis?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.051609898

Fanconi anemia diagnosis and the diepoxybutane (DEB) test.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30172

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

27 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.051609898

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance

1 reference

12 December 2020

Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.051609898

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5 November 2019

0 references

1 reference

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5 November 2019

1 reference