(Q37587816)

21 August 2017

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene (English)

1 reference

21 August 2017

dyskeratosis congenita

1 reference

1 reference

9

Mary Armanios

1 reference

21 August 2017

Jonathan K Alder

1

1 reference

21 August 2017

Erin M Parry

2

1 reference

21 August 2017

Srinivasan Yegnasubramanian

3

1 reference

21 August 2017

Christa L Wagner

4

1 reference

21 August 2017

Lawrence M Lieblich

5

1 reference

21 August 2017

Robert Auerbach

6

1 reference

21 August 2017

Arleen D Auerbach

7

1 reference

21 August 2017

Sarah J Wheelan

8

1 reference

21 August 2017

11 September 2013

1 reference

21 August 2017

1 reference

21 August 2017

34

1 reference

21 August 2017

11

1 reference

21 August 2017

1481-1485

1 reference

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

The gastrointestinal manifestations of telomere-mediated disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

23 August 2017

The telomere syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Telomere length is a determinant of emphysema susceptibility.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Integrative genomics viewer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Telomerase reactivation reverses tissue degeneration in aged telomerase-deficient mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Short telomeres are sufficient to cause the degenerative defects associated with aging

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Fanconi anemia and its diagnosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Syndromes of telomere shortening

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

23 August 2017

The telomerase database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Telomerase mutations in families with idiopathic pulmonary fibrosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Short telomeres, even in the presence of telomerase, limit tissue renewal capacity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Dyskeratosis congenita in all its forms

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

A telomerase component is defective in the human disease dyskeratosis congenita

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926107

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22397

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22397

Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23946118

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23946118

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22397

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

23946118

1 reference