(Q36862320)

16 August 2017

Mutations in the telomere capping complex in bone marrow failure and related syndromes (English)

1 reference

16 August 2017

Amanda J Walne

1

1 reference

16 August 2017

Tanya Bhagat

2

1 reference

16 August 2017

Michael Kirwan

3

1 reference

16 August 2017

Cyril Gitiaux

4

1 reference

16 August 2017

Isabelle Desguerre

5

1 reference

16 August 2017

Norma Leonard

6

1 reference

16 August 2017

Elena Nogales

7

1 reference

16 August 2017

Tom Vulliamy

8

1 reference

16 August 2017

Inderjeet S Dokal

9

1 reference

16 August 2017

16 August 2012

1 reference

16 August 2017

1 reference

16 August 2017

98

1 reference

16 August 2017

334-338

1 reference

16 August 2017

3

1 reference

Beyond average: potential for measurement of short telomeres.

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

CTC1 Mutations in a patient with dyskeratosis congenita.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

The genetics and clinical manifestations of telomere biology disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Evolution of CST function in telomere maintenance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Conservation of telomere protein complexes: shuffling through evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Telomere length measurement by a novel monochrome multiplex quantitative PCR method

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

How shelterin protects mammalian telomeres

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Intracranial calcification, retinopathy, and osteopenia: a new syndrome?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Connecting complex disorders through biology.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659926

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

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22899577

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An emerging role for the conserved telomere component 1 (CTC1) in human genetic disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22899577

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3324/HAEMATOL.2012.071068

1 reference

16 August 2017

1 reference

16 August 2017

1 reference