(Q41931296)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

Hoyeraal-Hreidarsson syndrome

27 February 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Patrick Revy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Michael Schertzer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Arturo Londono-Vallejo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Isabelle Callebaut

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

language of work or name

English

0 references

publication date

22 November 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

897-903

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130156%20AND%20SRC:MED&resulttype=core&format=json

Structure and mechanism of helicases and nucleic acid translocases

27 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

CDD: conserved domains and protein three-dimensional structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Identification of hidden relationships from the coupling of hydrophobic cluster analysis and domain architecture information

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Supersites within superfolds. Binding site similarity in the absence of homology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Deciphering protein sequence information through hydrophobic cluster analysis (HCA): current status and perspectives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

The HHpred interactive server for protein homology detection and structure prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

ESPript/ENDscript: Extracting and rendering sequence and 3D information from atomic structures of proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Comparative protein structure modeling of genes and genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Statistical potential for assessment and prediction of protein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Can correct protein models be identified?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

A Method to Identify Protein Sequences That Fold into a Known Three-Dimensional Structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

PROCHECK: a program to check the stereochemical quality of protein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

UCSF Chimera--a visualization system for exploratory research and analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Conserved Themes in Target Recognition by the PAH1 and PAH2 Domains of the Sin3 Transcriptional Corepressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

CCM2 mediates death signaling by the TrkA receptor tyrosine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438

Solution Structure of the mSin3A PAH2–Pf1 SID1 Complex: A Mad1/Mxd1-Like Interaction Disrupted by MRG15 in the Rpd3S/Sin3S Complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPROT.24438