(Q37178997)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

STN1 subunit of CST complex

19 March 2020

main subject

1 reference

GOA release 2020-03-11

author

Ortal Barel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Michalle Soudack

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Noa Greenberg-Kushnir

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

David L. Wiest

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Elon Pras

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Hana Poran

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Yechezkel Sidi

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Avishay Lahad

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Shira Sagie

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Haifa A Aqeilan

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Galina Glousker

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Yehuda Tzfati

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Sara Selig

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

29

Ninette Amariglio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

32

Gideon Rechavi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1

Amos J Simon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

33

Raz Somech

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

15

Iris Barshack

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

14

Ginette Schiby

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

6

Eran Eyal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

2

Atar Lev

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

7

Nitzan Kol

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

4

Batia Weiss

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

12

Michele Rhodes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

5

Anna Rylova

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

Yong Zhang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Keren Cesarkas

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Shulamit Katz

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Haike Reznik-Wolf

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Elena Ribakovsky

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Carlos Simon

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Wadi Hazou

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Hagar Katzir

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

language of work or name

English

0 references

publication date

18 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

Journal of Experimental Medicine

19 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

213

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

1429-1440

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

19 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4986528/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Stn1 is critical for telomere maintenance and long-term viability of somatic human cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Bone marrow failure and the telomeropathies

6 September 2017

1 reference

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Cell biology of disease: Telomeropathies: an emerging spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Human TEN1 maintains telomere integrity and functions in genome-wide replication restart

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Pomalidomide is nonteratogenic in chicken and zebrafish embryos and nonneurotoxic in vitro

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

CST for the grand finale of telomere replication.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Structure of the Human Telomeric Stn1-Ten1 Capping 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=4986528

A congenital neutrophil defect syndrome associated with mutations in VPS45.

6 September 2017

1 reference

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Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Human CST has independent functions during telomere duplex replication and C-strand fill-in

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

6 September 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=4986528

Human Stn1 protects telomere integrity by promoting efficient lagging-strand synthesis at telomeres and mediating C-strand fill-in

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Mutations in the telomere capping complex in bone marrow failure and related 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=4986528

Human CST promotes telomere duplex replication and general replication restart after fork stalling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

The human CST complex is a terminator of telomerase activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Revealing the role of phospholipase Cβ3 in the regulation of VEGF-induced vascular permeability.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

CTC1 Mutations in a patient 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=4986528

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Five dysfunctional telomeres predict onset of senescence 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=4986528

Shelterin complex and associated factors at human 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=4986528

Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Telomeric recombination induced by dysfunctional 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=4986528

Telomeric strategies: means to an end.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

How telomeres solve the end-protection problem

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson 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=4986528

Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

A DNA polymerase-{alpha}⋅primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian 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=4986528

High-resolution in situ hybridization to whole-mount zebrafish embryos

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

In vivo tracking of T cell development, ablation, and engraftment in transgenic zebrafish

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Sister chromatid separation at human telomeric regions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Angiogenesis-dependent diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

PDBsum: summaries and analyses of PDB structures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Effective targeted gene 'knockdown' in zebrafish

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Extension of life-span by introduction of telomerase into normal 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=4986528

Molecular steps of G-overhang generation at human telomeres and its function in chromosome end protection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Alternative lengthening of telomeres is characterized by high rates of telomeric exchange.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986528

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27432940

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1084/JEM.20151618

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27432940%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference