(Q36591308)

15 August 2017

Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita (English)

1 reference

15 August 2017

dyskeratosis congenita

1 reference

9

Connie J Eaves

1 reference

15 August 2017

Frederick D Goldman

1

1 reference

15 August 2017

Geraldine Aubert

2

1 reference

15 August 2017

Al J Klingelhutz

3

1 reference

15 August 2017

Mark Hills

4

1 reference

15 August 2017

Sarah R Cooper

5

1 reference

15 August 2017

Wendy S Hamilton

6

1 reference

15 August 2017

Annette J Schlueter

7

1 reference

15 August 2017

Karen Lambie

8

1 reference

15 August 2017

Peter M Lansdorp

10

1 reference

15 August 2017

language of work or name

English

0 references

publication date

29 February 2008

1 reference

15 August 2017

1 reference

15 August 2017

111

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15 August 2017

9

1 reference

15 August 2017

4523-4531

1 reference

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

The biogenesis and regulation of telomerase holoenzymes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

The effect of TERC haploinsufficiency on the inheritance of telomere length

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Functional characterization of telomerase RNA variants found in patients with hematologic disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Telomere Length in Subpopulations of Human Hematopoietic Cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Telomere shortening accompanies increased cell cycle activity during serial transplantation of hematopoietic stem cells

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Dyskeratosis congenita in all its forms

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Telomerase regulation, cell cycle, and telomere stability in primitive hematopoietic cells.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Loss of stem cell repopulating ability upon transplantation. Effects of donor age, cell number, and transplantation procedure

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Stem cell collection and gene transfer in Fanconi anemia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Telomere length measurements using digital fluorescence microscopy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Sensitivity to Radiation and Alkylating Agent of Peripheral Lymphocytes and Fibroblasts in a Hoyeraal-Hreidarsson Syndrome Patient

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Extensive allelic variation and ultrashort telomeres in senescent human cells.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Primary myelodysplastic syndrome with normal cytogenetics: utility of 'FISH panel testing' and M-FISH.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Delineation among eight major hematopoietic subsets in murine bone marrow using a two-color flow cytometric technique.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Accelerated telomere shortening in hematological lineages is limited to the first year following stem cell transplantation.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Telomerase activity in hematopoietic cells is associated with self-renewal potential

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Telomere dysfunction induces environmental alterations limiting hematopoietic stem cell function and engraftment

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2343591

Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment

4 December 2018

1 reference

12 December 2020

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

12 December 2020

Limited telomere shortening in hematopoietic stem cells after transplantation

1 reference

12 December 2020

Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome

1 reference

12 December 2020

Stem cell defect in aplastic anemia: reduced long term culture-initiating cells (LTC-IC) in CD34+ cells isolated from aplastic anemia patient bone marrow

1 reference

12 December 2020

Telomerase is required to slow telomere shortening and extend replicative lifespan of HSCs during serial transplantation

1 reference

12 December 2020

Unusual hypersensitivity to radiation therapy in a patient with dyskeratosis congenita syndrome

1 reference

12 December 2020

Cytogenetic differentiation of Fanconi anemia, "idiopathic" aplastic anemia, and Fanconi anemia heterozygotes

1 reference

12 December 2020

Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

1 reference

12 December 2020

Bone marrow transplantation for Fanconi anemia using low-dose cyclophosphamide/thoracoabdominal irradiation as conditioning regimen: chimerism study by the polymerase chain reaction

1 reference

12 December 2020

Deficiency of CD34+ c-kit+ and CD34+38- hematopoietic precursors in aplastic anemia after immunosuppressive treatment

1 reference

12 December 2020

The ISHAGE guidelines for CD34+ cell determination by flow cytometry. International Society of Hematotherapy and Graft Engineering

1 reference

12 December 2020

Enhanced detection, maintenance, and differentiation of primitive human hematopoietic cells in cultures containing murine fibroblasts engineered to produce human steel factor, interleukin-3, and granulocyte colony-stimulating factor

1 reference

12 December 2020

Impaired hematopoiesis in paroxysmal nocturnal hemoglobinuria/aplastic anemia is not associated with a selective proliferative defect in the glycosylphosphatidylinositol-anchored protein-deficient clone

1 reference

12 December 2020

Accelerated telomere shortening in bone-marrow recipients

1 reference

12 December 2020

Unusual complications after bone marrow transplantation for dyskeratosis congenita

1 reference

12 December 2020

TERC mutations in children with refractory cytopenia

1 reference

12 December 2020

Dyskeratosis congenita

1 reference

12 December 2020

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome

1 reference

12 December 2020

10.1182/BLOOD-2007-10-120204

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference