(Q37352501)

19 August 2017

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood (English)

1 reference

19 August 2017

dyskeratosis congenita

1 reference

G S Sasa

1

1 reference

19 August 2017

A Ribes-Zamora

series ordinal

2

1 reference

19 August 2017

N D Nelson

series ordinal

3

1 reference

19 August 2017

A A Bertuch

series ordinal

4

1 reference

19 August 2017

7 April 2011

1 reference

19 August 2017

1 reference

19 August 2017

81

1 reference

19 August 2017

5

1 reference

19 August 2017

470-478

1 reference

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

A novel form of the telomere-associated protein TIN2 localizes to the nuclear matrix

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Advances in the understanding of dyskeratosis congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Small-scale extracts for the study of nucleotide excision repair and non-homologous end joining

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Dyskeratosis congenita: a genetic disorder of many faces

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Protein requirements for sister telomere association in human cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Telomere length is paternally inherited and is associated with parental lifespan

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Dyskeratosis congenita in all its forms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

TIN2, a new regulator of telomere length in human cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Rapid and efficient site-specific mutagenesis without phenotypic selection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

TINF2 mutations in children with severe aplastic anemia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3844870

26 June 2018

Dyskeratosis congenita

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01658.X

The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Ataxia and pancytopenia caused by a mutation in TINF2

1 reference

12 December 2020

Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA c

1 reference

12 December 2020

10.1111/J.1399-0004.2011.01658.X

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

1 reference