Chromothriptic cure of WHIM syndrome (Q35085186)

6 August 2017

title

Chromothriptic cure of WHIM syndrome (English)

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6 August 2017

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6 August 2017

Harry L Malech

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6 August 2017

Karl Balabanian

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Françoise Bachelerie

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Philip M Murphy

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6 August 2017

Stefania Pittaluga

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6 August 2017

Ji-Liang Gao

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6 August 2017

Qian Liu

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6 August 2017

Marie Siwicki

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6 August 2017

Craig Martens

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6 August 2017

Paejonette Jacobs

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6 August 2017

Daniel Velez

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6 August 2017

Erin Yim

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6 August 2017

Christine R Bryke

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6 August 2017

Nancy Hsu

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6 August 2017

Zunyan Dai

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6 August 2017

Martha M Marquesen

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6 August 2017

Elina Stregevsky

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6 August 2017

Nana Kwatemaa

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6 August 2017

Narda Theobald

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6 August 2017

Debra A Long Priel

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6 August 2017

Mark A Raffeld

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6 August 2017

Katherine R Calvo

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6 August 2017

Irina Maric

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6 August 2017

Ronan Desmond

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6 August 2017

Kevin L Holmes

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6 August 2017

Douglas B Kuhns

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6 August 2017

Stephen F Porcella

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6 August 2017

language of work or name

English

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publication date

5 February 2015

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6 August 2017

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6 August 2017

volume

160

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6 August 2017

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6 August 2017

page(s)

686-699

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The genome editing toolbox: a spectrum of approaches for targeted modification

6 August 2017

cites work

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8 July 2018

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A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

International Union of Basic and Clinical Pharmacology. [corrected]. LXXXIX. Update on the extended family of chemokine receptors and introducing a new nomenclature for atypical chemokine receptors

8 July 2018

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8 July 2018

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Criteria for inference of chromothripsis in cancer genomes

8 July 2018

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TALENs: a widely applicable technology for targeted genome editing

8 July 2018

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Chromothripsis: chromosomes in crisis

8 July 2018

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Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

8 July 2018

1 reference

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Dnmt3a is essential for hematopoietic stem cell differentiation

8 July 2018

1 reference

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The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Clinical and Genetic Features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) Syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

8 July 2018

1 reference

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Hematopoietic stem cell: self-renewal versus differentiation

8 July 2018

1 reference

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Genome editing with engineered zinc finger nucleases

8 July 2018

1 reference

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Interleukin-1 regulates hematopoietic progenitor and stem cells in the midgestation mouse fetal liver

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

WHIM syndrome: congenital immune deficiency disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Hematopoietic stem cell function and survival depend on c-Myc and N-Myc activity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

CXCR4 is required for the quiescence of primitive hematopoietic cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Maintenance of the hematopoietic stem cell pool by CXCL12-CXCR4 chemokine signaling in bone marrow stromal cell niches

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Mutual, reciprocal SDF-1/CXCR4 interactions between hematopoietic and bone marrow stromal cells regulate human stem cell migration and development in NOD/SCID chimeric mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Rapid mobilization of murine and human hematopoietic stem and progenitor cells with AMD3100, a CXCR4 antagonist

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

In vivo reversion to normal of inherited mutations in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Distinct mechanisms of agonist-induced endocytosis for human chemokine receptors CCR5 and CXCR4

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Differential regulation of CXCR4 and CCR5 endocytosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Function of the chemokine receptor CXCR4 in haematopoiesis and in cerebellar development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

The chemokine receptor CXCR4 is essential for vascularization of the gastrointestinal tract

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

A highly efficacious lymphocyte chemoattractant, stromal cell-derived factor 1 (SDF-1)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

CHRONIC IDIOPATHIC GRANULOCYTOPENIA.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Transgenic expression of stromal cell-derived factor-1/CXC chemokine ligand 12 enhances myeloid progenitor cell survival/antiapoptosis in vitro in response to growth factor withdrawal and enhances myelopoiesis in vivo

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329071

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

27 September 2018

1 reference

12 December 2020

Proper desensitization of CXCR4 is required for lymphocyte development and peripheral compartmentalization in mice

1 reference

12 December 2020

Stromal cell-derived factor-1/CXCL12 directly enhances survival/antiapoptosis of myeloid progenitor cells through CXCR4 and Gαi proteins and enhances engraftment of competitive, repopulating stem cells

1 reference

12 December 2020

Regulation of human chemokine receptors CXCR4. Role of phosphorylation in desensitization and internalization

1 reference

12 December 2020

"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE

1 reference

12 December 2020

10.1016/J.CELL.2015.01.014

Identifiers

DOI

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6 August 2017

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6 August 2017

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