(Q34258372)

English

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

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

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

1 reference

Europe PubMed Central

31 July 2017

cerebroretinal microangiopathy with calcifications and cysts

0 references

1 reference

based on heuristic

inferred from title

Anna-Elina Lehesjoki

12

object named as

Anna-Elina Lehesjoki

1 reference

Europe PubMed Central

31 July 2017

object named as

Iiris Hovatta

10

0 references

object named as

Tero Kivelä

3

0 references

object named as

Outi Mäkitie

6

0 references

author name string

Anne Polvi

1

1 reference

Europe PubMed Central

31 July 2017

Tarja Linnankivi

2

1 reference

Europe PubMed Central

31 July 2017

Riitta Herva

4

1 reference

Europe PubMed Central

31 July 2017

James P Keating

5

1 reference

Europe PubMed Central

31 July 2017

Davide Pareyson

7

1 reference

Europe PubMed Central

31 July 2017

Leena Vainionpää

8

1 reference

Europe PubMed Central

31 July 2017

Jenni Lahtinen

9

1 reference

Europe PubMed Central

31 July 2017

Helena Pihko

11

1 reference

Europe PubMed Central

31 July 2017

language of work or name

0 references

publication date

1 March 2012

1 reference

Europe PubMed Central

31 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

31 July 2017

90

1 reference

Europe PubMed Central

31 July 2017

3

1 reference

Europe PubMed Central

31 July 2017

540-549

1 reference

Europe PubMed Central

31 July 2017

Xenopus laevis Ctc1-Stn1-Ten1 (xCST) protein complex is involved in priming DNA synthesis on single-stranded DNA template in Xenopus egg extract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Comparison of solution-based exome capture methods for next generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

The genetics and clinical manifestations of telomere biology disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Telomerase structure function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Evolution of CST function in telomere maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Childhood adversities are associated with shorter telomere length at adult age both in individuals with an anxiety disorder and controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

A DNA polymerase-{alpha}⋅primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Cerebroretinal microangiopathy with calcifications and cysts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Shelterin: the protein complex that shapes and safeguards human telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Leukoencephalopathy, cerebral calcifications, and cysts: new observations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

The Finnish Disease Heritage III: the individual diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Telomere measurement by quantitative PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Prediction of deleterious human alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

6 July 2018

Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

28 October 2018

Telomerase-deficient mice exhibit bone loss owing to defects in osteoblasts and increased osteoclastogenesis by inflammatory microenvironment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

28 October 2018

No evidence for shorter leukocyte telomere length in Parkinson's disease patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

28 October 2018

Late presentation of leucoencephalopathy with calcifications and cysts: report of two cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

28 October 2018

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309194

28 October 2018

Identifiers

10.1016/J.AJHG.2012.02.002

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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