Open Access
Nature Reviews Genetics, volume 13, issue 10, pages 693-704
The telomere syndromes
3
Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, USA
|
Publication type: Journal Article
Publication date: 2012-09-11
Journal:
Nature Reviews Genetics
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor: 42.7
ISSN: 14710056, 14710064
DOI:
10.1038/nrg3246
PubMed ID:
22965356
Molecular Biology
Genetics
Genetics (clinical)
Abstract
There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes.
Citations by journals
2
4
6
8
10
12
14
16
18
20
|
|
Nature Communications
|
Nature Communications
19 publications, 2.55%
|
European Respiratory Journal
|
European Respiratory Journal
11 publications, 1.48%
|
Aging Cell
|
Aging Cell
11 publications, 1.48%
|
Scientific Reports
|
Scientific Reports
11 publications, 1.48%
|
Proceedings of the National Academy of Sciences of the United States of America
|
Proceedings of the National Academy of Sciences of the United States of America
11 publications, 1.48%
|
Cell Reports
|
Cell Reports
10 publications, 1.34%
|
Nucleic Acids Research
|
Nucleic Acids Research
9 publications, 1.21%
|
International Journal of Molecular Sciences
|
International Journal of Molecular Sciences
9 publications, 1.21%
|
PLoS ONE
|
PLoS ONE
9 publications, 1.21%
|
eLife
|
eLife
9 publications, 1.21%
|
PLoS Genetics
|
PLoS Genetics
8 publications, 1.07%
|
Blood
|
Blood
8 publications, 1.07%
|
Frontiers in Medicine
|
Frontiers in Medicine
7 publications, 0.94%
|
Experimental Gerontology
|
Experimental Gerontology
7 publications, 0.94%
|
Cell
|
Cell
7 publications, 0.94%
|
American Journal of Respiratory and Critical Care Medicine
|
American Journal of Respiratory and Critical Care Medicine
6 publications, 0.81%
|
Aging
|
Aging
6 publications, 0.81%
|
Psychoneuroendocrinology
|
Psychoneuroendocrinology
6 publications, 0.81%
|
Molecular Ecology
|
Molecular Ecology
6 publications, 0.81%
|
Journal of Clinical Investigation
|
Journal of Clinical Investigation
5 publications, 0.67%
|
Frontiers in Genetics
|
Frontiers in Genetics
5 publications, 0.67%
|
Mechanisms of Ageing and Development
|
Mechanisms of Ageing and Development
5 publications, 0.67%
|
Ageing Research Reviews
|
Ageing Research Reviews
5 publications, 0.67%
|
Chest
|
Chest
5 publications, 0.67%
|
Journal of Biological Chemistry
|
Journal of Biological Chemistry
5 publications, 0.67%
|
Human Molecular Genetics
|
Human Molecular Genetics
5 publications, 0.67%
|
Genes
|
Genes
4 publications, 0.54%
|
Cancers
|
Cancers
4 publications, 0.54%
|
Nature
|
Nature
4 publications, 0.54%
|
2
4
6
8
10
12
14
16
18
20
|
Citations by publishers
20
40
60
80
100
120
140
160
180
|
|
Elsevier
|
Elsevier
164 publications, 22.01%
|
Springer Nature
|
Springer Nature
105 publications, 14.09%
|
Wiley
|
Wiley
68 publications, 9.13%
|
Multidisciplinary Digital Publishing Institute (MDPI)
|
Multidisciplinary Digital Publishing Institute (MDPI)
29 publications, 3.89%
|
Frontiers Media S.A.
|
Frontiers Media S.A.
25 publications, 3.36%
|
Taylor & Francis
|
Taylor & Francis
23 publications, 3.09%
|
Oxford University Press
|
Oxford University Press
21 publications, 2.82%
|
Public Library of Science (PLoS)
|
Public Library of Science (PLoS)
17 publications, 2.28%
|
European Respiratory Society (ERS)
|
European Respiratory Society (ERS)
13 publications, 1.74%
|
American Society of Hematology
|
American Society of Hematology
13 publications, 1.74%
|
Wolters Kluwer Health
|
Wolters Kluwer Health
11 publications, 1.48%
|
Proceedings of the National Academy of Sciences (PNAS)
|
Proceedings of the National Academy of Sciences (PNAS)
11 publications, 1.48%
|
American Thoracic Society
|
American Thoracic Society
9 publications, 1.21%
|
eLife Sciences Publications
|
eLife Sciences Publications
9 publications, 1.21%
|
Rockefeller University Press
|
Rockefeller University Press
9 publications, 1.21%
|
Impact Journals
|
Impact Journals
8 publications, 1.07%
|
Cold Spring Harbor Laboratory
|
Cold Spring Harbor Laboratory
7 publications, 0.94%
|
American Society for Clinical Investigation
|
American Society for Clinical Investigation
6 publications, 0.81%
|
American Physiological Society
|
American Physiological Society
6 publications, 0.81%
|
The Royal Society
|
The Royal Society
5 publications, 0.67%
|
American Society for Biochemistry and Molecular Biology
|
American Society for Biochemistry and Molecular Biology
5 publications, 0.67%
|
American Association for the Advancement of Science (AAAS)
|
American Association for the Advancement of Science (AAAS)
5 publications, 0.67%
|
Annual Reviews
|
Annual Reviews
5 publications, 0.67%
|
The Company of Biologists
|
The Company of Biologists
4 publications, 0.54%
|
Mary Ann Liebert
|
Mary Ann Liebert
4 publications, 0.54%
|
SAGE
|
SAGE
4 publications, 0.54%
|
Federation of American Societies for Experimental Biology (FASEB)
|
Federation of American Societies for Experimental Biology (FASEB)
4 publications, 0.54%
|
Walter de Gruyter
|
Walter de Gruyter
4 publications, 0.54%
|
Portland Press
|
Portland Press
3 publications, 0.4%
|
20
40
60
80
100
120
140
160
180
|
- We do not take into account publications that without a DOI.
- Statistics recalculated only for publications connected to researchers, organizations and labs registered on the platform.
- Statistics recalculated weekly.
{"yearsCitations":{"type":"bar","data":{"show":true,"labels":[2012,2013,2014,2015,2016,2017,2018,2019,2020,2021,2022,2023,2024],"ids":[0,0,0,0,0,0,0,0,0,0,0,0,0],"codes":[0,0,0,0,0,0,0,0,0,0,0,0,0],"imageUrls":["","","","","","","","","","","","",""],"datasets":[{"label":"Citations number","data":[4,47,56,63,75,81,70,74,65,86,60,59,5],"backgroundColor":["#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6"],"percentage":["0.54","6.31","7.52","8.46","10.07","10.87","9.4","9.93","8.72","11.54","8.05","7.92","0.67"],"barThickness":null}]},"options":{"indexAxis":"x","maintainAspectRatio":true,"scales":{"y":{"ticks":{"precision":0,"autoSkip":false,"font":{"family":"Montserrat"},"color":"#000000"}},"x":{"ticks":{"stepSize":1,"precision":0,"font":{"family":"Montserrat"},"color":"#000000"}}},"plugins":{"legend":{"position":"top","labels":{"font":{"family":"Montserrat"},"color":"#000000"}},"title":{"display":true,"text":"Citations per year","font":{"size":24,"family":"Montserrat","weight":600},"color":"#000000"}}}},"journals":{"type":"bar","data":{"show":true,"labels":["Nature Communications","European Respiratory Journal","Aging Cell","Scientific Reports","Proceedings of the National Academy of Sciences of the United States of America","Cell Reports","Nucleic Acids Research","International Journal of Molecular Sciences","PLoS ONE","eLife","PLoS Genetics","Blood","Frontiers in Medicine","Experimental Gerontology","Cell","American Journal of Respiratory and Critical Care Medicine","Aging","Psychoneuroendocrinology","Molecular Ecology","Journal of Clinical Investigation","Frontiers in Genetics","Mechanisms of Ageing and Development","Ageing Research Reviews","Chest","Journal of Biological Chemistry","Human Molecular Genetics","Genes","Cancers","Nature"],"ids":[3231,24322,17299,13767,306,9130,23904,14627,24963,24138,785,6594,17043,4210,16552,10201,780,6965,25160,1384,13242,18301,5462,2519,19451,4947,8879,22471,14611],"codes":[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],"imageUrls":["\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/hMjtEcPnOlZu0Qdup5ZFVJML9APp6JeBF0xfZC5e_medium.webp","\/storage\/images\/resized\/bRyGpdm98BkAUYiK1YFNpl5Z7hPu6Gd87gbIeuG3_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/mxFdPe9qujsfvfYfcN0QOclAiYORFb0xrRlwV8gs_medium.webp","\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/yNSijlgQghQF53VZuyFLA30CKDe4j3HK74Vtpnxa_medium.webp","\/storage\/images\/resized\/MjH1ITP7lMYGxeqUZfkt2BnVLgjkk413jwBV97XX_medium.webp","\/storage\/images\/resized\/PRGhlgB4OKRltSNtT39eA6wlnOTGRap1QQ6FQHih_medium.webp","\/storage\/images\/resized\/eIZgkq1MRZyJ3hBkdupnUUv7wgB6zCl9D99SlPN5_medium.webp","\/storage\/images\/resized\/PRGhlgB4OKRltSNtT39eA6wlnOTGRap1QQ6FQHih_medium.webp","\/storage\/images\/resized\/QMhhcrIUiVtFnND3WWZ7hIbu6GYeoRoA2zoVsMEX_medium.webp","\/storage\/images\/resized\/4QWA67eqfcfyOiA8Wk7YnqroHFqQbTsmDJUYTCTg_medium.webp","\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/y6coX2RdMAMXy0PTXCMVDlJvumyjAcjbT7WXoxjx_medium.webp","\/storage\/images\/resized\/HY0CXgRt044tzIAB16PDvDzdHeKHGtSvlMH0yWf6_medium.webp","\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/bRyGpdm98BkAUYiK1YFNpl5Z7hPu6Gd87gbIeuG3_medium.webp","\/storage\/images\/resized\/aFa86lAy63Pq5tYKiOsH017UsgJA6uk6ed66C0Ns_medium.webp","\/storage\/images\/resized\/4QWA67eqfcfyOiA8Wk7YnqroHFqQbTsmDJUYTCTg_medium.webp","\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/OuA6WPZekwEiUM99mP2pSqj4yHPxHezM6xgLhAjO_medium.webp","\/storage\/images\/resized\/yNSijlgQghQF53VZuyFLA30CKDe4j3HK74Vtpnxa_medium.webp","\/storage\/images\/resized\/MjH1ITP7lMYGxeqUZfkt2BnVLgjkk413jwBV97XX_medium.webp","\/storage\/images\/resized\/MjH1ITP7lMYGxeqUZfkt2BnVLgjkk413jwBV97XX_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp"],"datasets":[{"label":"","data":[19,11,11,11,11,10,9,9,9,9,8,8,7,7,7,6,6,6,6,5,5,5,5,5,5,5,4,4,4],"backgroundColor":["#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6"],"percentage":[2.55,1.48,1.48,1.48,1.48,1.34,1.21,1.21,1.21,1.21,1.07,1.07,0.94,0.94,0.94,0.81,0.81,0.81,0.81,0.67,0.67,0.67,0.67,0.67,0.67,0.67,0.54,0.54,0.54],"barThickness":13}]},"options":{"indexAxis":"y","maintainAspectRatio":false,"scales":{"y":{"ticks":{"precision":0,"autoSkip":false,"font":{"family":"Montserrat"},"color":"#000000"}},"x":{"ticks":{"stepSize":null,"precision":0,"font":{"family":"Montserrat"},"color":"#000000"}}},"plugins":{"legend":{"position":"top","labels":{"font":{"family":"Montserrat"},"color":"#000000"}},"title":{"display":true,"text":"Journals","font":{"size":24,"family":"Montserrat","weight":600},"color":"#000000"}}}},"publishers":{"type":"bar","data":{"show":true,"labels":["Elsevier","Springer Nature","Wiley","Multidisciplinary Digital Publishing Institute (MDPI)","Frontiers Media S.A.","Taylor & Francis","Oxford University Press","Public Library of Science (PLoS)","European Respiratory Society (ERS)","American Society of Hematology","Wolters Kluwer Health","Proceedings of the National Academy of Sciences (PNAS)","American Thoracic Society","eLife Sciences Publications","Rockefeller University Press","Impact Journals","Cold Spring Harbor Laboratory","American Society for Clinical Investigation","American Physiological Society","The Royal Society","American Society for Biochemistry and Molecular Biology","American Association for the Advancement of Science (AAAS)","Annual Reviews","The Company of Biologists","Mary Ann Liebert","SAGE","Federation of American Societies for Experimental Biology (FASEB)","Walter de Gruyter","Portland Press"],"ids":[17,8,11,202,208,18,19,344,3289,2252,32,162,3246,6627,22,342,6909,564,166,259,2090,189,6941,872,230,31,3243,4,801],"codes":[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],"imageUrls":["\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/bRyGpdm98BkAUYiK1YFNpl5Z7hPu6Gd87gbIeuG3_medium.webp","\/storage\/images\/resized\/MjH1ITP7lMYGxeqUZfkt2BnVLgjkk413jwBV97XX_medium.webp","\/storage\/images\/resized\/4QWA67eqfcfyOiA8Wk7YnqroHFqQbTsmDJUYTCTg_medium.webp","\/storage\/images\/resized\/5YZtvLvkPZuc2JHOaZsjCvGSHFCuC3drUwN3YAc5_medium.webp","\/storage\/images\/resized\/yNSijlgQghQF53VZuyFLA30CKDe4j3HK74Vtpnxa_medium.webp","\/storage\/images\/resized\/PRGhlgB4OKRltSNtT39eA6wlnOTGRap1QQ6FQHih_medium.webp","\/storage\/images\/resized\/hMjtEcPnOlZu0Qdup5ZFVJML9APp6JeBF0xfZC5e_medium.webp","\/storage\/images\/resized\/QMhhcrIUiVtFnND3WWZ7hIbu6GYeoRoA2zoVsMEX_medium.webp","\/storage\/images\/resized\/6QE8LXWrLpkoy5A2te6hw7who46GeCoTYIstuoAz_medium.webp","\/storage\/images\/resized\/mxFdPe9qujsfvfYfcN0QOclAiYORFb0xrRlwV8gs_medium.webp","\/storage\/images\/resized\/y6coX2RdMAMXy0PTXCMVDlJvumyjAcjbT7WXoxjx_medium.webp","\/storage\/images\/resized\/eIZgkq1MRZyJ3hBkdupnUUv7wgB6zCl9D99SlPN5_medium.webp","\/storage\/images\/resized\/lEA1FyUnFAZR1DchuczZi5bjAixG3TNeWVz6oF4R_medium.webp","\/storage\/images\/resized\/HY0CXgRt044tzIAB16PDvDzdHeKHGtSvlMH0yWf6_medium.webp","\/storage\/images\/resized\/hg4jJjT8wVGtHstBCc0zk465Mg9pLx3G4odCDOqE_medium.webp","\/storage\/images\/resized\/aFa86lAy63Pq5tYKiOsH017UsgJA6uk6ed66C0Ns_medium.webp","\/storage\/images\/resized\/eZQGZ1aBN8Xm8Yr5YG7nBeNQtWLPrca5SfDreLbq_medium.webp","\/storage\/images\/resized\/BHBStD1OkQqtKFRRjS5njgNe7bXCAEgaDQVK7GTA_medium.webp","\/storage\/images\/resized\/OuA6WPZekwEiUM99mP2pSqj4yHPxHezM6xgLhAjO_medium.webp","\/storage\/images\/resized\/s10mcsCV4OAUg9O2KrqOquQC0PhyLMI8hUUkuflM_medium.webp","\/storage\/images\/resized\/A7oGMwx1m3fFJlKJvQUVra8h0itmEa7JZW0q3Q0b_medium.webp","\/storage\/images\/resized\/ko5EaisKGm66J1hHXtfEgVEeeWb9uOcMofpNuf0a_medium.webp","\/storage\/images\/resized\/Zy5YST233rzRbZP24I24MzZm64hz20ZV9qQopmMn_medium.webp","\/storage\/images\/resized\/ruydfaB80LDjlkYqsfOeUAZohOIODyq7bQzis5O7_medium.webp","\/storage\/images\/resized\/dfTCxFYwjmdhSAwAcIOV9PfBdAN17zTMvybxH2kG_medium.webp","\/storage\/images\/resized\/3SpVxcYL33bOvPq4sHxJLH2NeKNeDloahSUpNiO4_medium.webp","\/storage\/images\/resized\/nUqNrP9GnM1t0BrAIXp1LBodjU8aIJ2Fk4pLfGhZ_medium.webp"],"datasets":[{"label":"","data":[164,105,68,29,25,23,21,17,13,13,11,11,9,9,9,8,7,6,6,5,5,5,5,4,4,4,4,4,3],"backgroundColor":["#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6"],"percentage":[22.01,14.09,9.13,3.89,3.36,3.09,2.82,2.28,1.74,1.74,1.48,1.48,1.21,1.21,1.21,1.07,0.94,0.81,0.81,0.67,0.67,0.67,0.67,0.54,0.54,0.54,0.54,0.54,0.4],"barThickness":13}]},"options":{"indexAxis":"y","maintainAspectRatio":false,"scales":{"y":{"ticks":{"precision":0,"autoSkip":false,"font":{"family":"Montserrat"},"color":"#000000"}},"x":{"ticks":{"stepSize":null,"precision":0,"font":{"family":"Montserrat"},"color":"#000000"}}},"plugins":{"legend":{"position":"top","labels":{"font":{"family":"Montserrat"},"color":"#000000"}},"title":{"display":true,"text":"Publishers","font":{"size":24,"family":"Montserrat","weight":600},"color":"#000000"}}}}}
Metrics
Cite this
GOST |
RIS |
BibTex |
MLA
Cite this
RIS
Copy
TY - JOUR
DO - 10.1038/nrg3246
UR - https://doi.org/10.1038%2Fnrg3246
TI - The telomere syndromes
T2 - Nature Reviews Genetics
AU - Armanios, Mary
AU - Blackburn, Elizabeth H.
PY - 2012
DA - 2012/09/11 00:00:00
PB - Springer Nature
SP - 693-704
IS - 10
VL - 13
PMID - 22965356
SN - 1471-0056
SN - 1471-0064
ER -
Cite this
BibTex
Copy
@article{2012_Armanios,
author = {Mary Armanios and Elizabeth H. Blackburn},
title = {The telomere syndromes},
journal = {Nature Reviews Genetics},
year = {2012},
volume = {13},
publisher = {Springer Nature},
month = {sep},
url = {https://doi.org/10.1038%2Fnrg3246},
number = {10},
pages = {693--704},
doi = {10.1038/nrg3246}
}
Cite this
MLA
Copy
Armanios, Mary, et al. “The telomere syndromes.” Nature Reviews Genetics, vol. 13, no. 10, Sep. 2012, pp. 693-704. https://doi.org/10.1038%2Fnrg3246.