Literature DB >> 26232116

The short and long telomere syndromes: paired paradigms for molecular medicine.

Susan E Stanley1, Mary Armanios2.   

Abstract

Recent advances have defined a role for abnormally short telomeres in a broad spectrum of genetic disorders. They include rare conditions such as dyskeratosis congenita as well pulmonary fibrosis and emphysema. Now, there is new evidence that some familial cancers, such as melanoma, are caused by mutations that lengthen telomeres. Here, we examine the significance of these short and long telomere length extremes for understanding the molecular basis of age-related disease and cancer.
Copyright © 2015 Elsevier Ltd. All rights reserved.

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Year:  2015        PMID: 26232116      PMCID: PMC4741306          DOI: 10.1016/j.gde.2015.06.004

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  91 in total

1.  The gastrointestinal manifestations of telomere-mediated disease.

Authors:  Naudia L Jonassaint; Nini Guo; Joseph A Califano; Elizabeth A Montgomery; Mary Armanios
Journal:  Aging Cell       Date:  2013-01-04       Impact factor: 9.304

Review 2.  Telomeres and age-related disease: how telomere biology informs clinical paradigms.

Authors:  Mary Armanios
Journal:  J Clin Invest       Date:  2013-03-01       Impact factor: 14.808

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

Authors:  Bari J Ballew; Meredith Yeager; Kevin Jacobs; Neelam Giri; Joseph Boland; Laurie Burdett; Blanche P Alter; Sharon A Savage
Journal:  Hum Genet       Date:  2013-01-18       Impact factor: 4.132

Review 4.  Cancer genome landscapes.

Authors:  Bert Vogelstein; Nickolas Papadopoulos; Victor E Velculescu; Shibin Zhou; Luis A Diaz; Kenneth W Kinzler
Journal:  Science       Date:  2013-03-29       Impact factor: 47.728

5.  Telomere length and risk of melanoma, squamous cell carcinoma, and basal cell carcinoma.

Authors:  Gabriella M Anic; Vernon K Sondak; Jane L Messina; Neil A Fenske; Jonathan S Zager; Basil S Cherpelis; Ji-Hyun Lee; William J Fulp; Pearlie K Epling-Burnette; Jong Y Park; Dana E Rollison
Journal:  Cancer Epidemiol       Date:  2013-03-21       Impact factor: 2.984

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

Authors:  Tangui Le Guen; Laurent Jullien; Fabien Touzot; Michael Schertzer; Laetitia Gaillard; Mylène Perderiset; Wassila Carpentier; Patrick Nitschke; Capucine Picard; Gérard Couillault; Jean Soulier; Alain Fischer; Isabelle Callebaut; Nada Jabado; Arturo Londono-Vallejo; Jean-Pierre de Villartay; Patrick Revy
Journal:  Hum Mol Genet       Date:  2013-04-15       Impact factor: 6.150

7.  TERT promoter mutations in familial and sporadic melanoma.

Authors:  Susanne Horn; Adina Figl; P Sivaramakrishna Rachakonda; Christine Fischer; Antje Sucker; Andreas Gast; Stephanie Kadel; Iris Moll; Eduardo Nagore; Kari Hemminki; Dirk Schadendorf; Rajiv Kumar
Journal:  Science       Date:  2013-01-24       Impact factor: 47.728

8.  Highly recurrent TERT promoter mutations in human melanoma.

Authors:  Franklin W Huang; Eran Hodis; Mary Jue Xu; Gregory V Kryukov; Lynda Chin; Levi A Garraway
Journal:  Science       Date:  2013-01-24       Impact factor: 47.728

9.  The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.

Authors:  Jayakrishnan Nandakumar; Caitlin F Bell; Ina Weidenfeld; Arthur J Zaug; Leslie A Leinwand; Thomas R Cech
Journal:  Nature       Date:  2012-10-24       Impact factor: 69.504

10.  Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Authors:  Amanda J Walne; Tom Vulliamy; Michael Kirwan; Vincent Plagnol; Inderjeet Dokal
Journal:  Am J Hum Genet       Date:  2013-02-28       Impact factor: 11.025

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  53 in total

Review 1.  Telomerase Mechanism of Telomere Synthesis.

Authors:  R Alex Wu; Heather E Upton; Jacob M Vogan; Kathleen Collins
Journal:  Annu Rev Biochem       Date:  2017-01-30       Impact factor: 23.643

Review 2.  Ancestry, Telomere Length, and Atherosclerosis Risk.

Authors:  Athanase Benetos; Abraham Aviv
Journal:  Circ Cardiovasc Genet       Date:  2017-06

Review 3.  Telomerase structures and regulation: shedding light on the chromosome end.

Authors:  Thi Hoang Duong Nguyen; Kathleen Collins; Eva Nogales
Journal:  Curr Opin Struct Biol       Date:  2019-06-12       Impact factor: 6.809

Review 4.  Extrahematopoietic manifestations of the short telomere syndromes.

Authors:  Kristen E Schratz
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2020-12-04

5.  A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.

Authors:  Huiling He; Wei Li; Daniel F Comiskey; Sandya Liyanarachchi; Taina T Nieminen; Yanqiang Wang; Katherine E DeLap; Pamela Brock; Albert de la Chapelle
Journal:  Thyroid       Date:  2020-02       Impact factor: 6.568

6.  Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

Authors:  Kerstin Felgentreff; Sachin N Baxi; Yu Nee Lee; Kerry Dobbs; Lauren A Henderson; Krisztian Csomos; Erdyni N Tsitsikov; Mary Armanios; Jolan E Walter; Luigi D Notarangelo
Journal:  J Clin Immunol       Date:  2016-04-11       Impact factor: 8.317

Review 7.  Telomerase and the Genetics of Emphysema Susceptibility. Implications for Pathogenesis Paradigms and Patient Care.

Authors:  Susan E Stanley; Samantha J Merck; Mary Armanios
Journal:  Ann Am Thorac Soc       Date:  2016-12

Review 8.  Cancer and myeloid clonal evolution in the short telomere syndromes.

Authors:  Kristen E Schratz; Mary Armanios
Journal:  Curr Opin Genet Dev       Date:  2020-04-07       Impact factor: 5.578

9.  IPF lung fibroblasts have a senescent phenotype.

Authors:  Diana Álvarez; Nayra Cárdenes; Jacobo Sellarés; Marta Bueno; Catherine Corey; Vidya Sagar Hanumanthu; Yating Peng; Hannah D'Cunha; John Sembrat; Mehdi Nouraie; Swaroop Shanker; Chandler Caufield; Sruti Shiva; Mary Armanios; Ana L Mora; Mauricio Rojas
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2017-08-31       Impact factor: 5.464

Review 10.  Fanconi anaemia and cancer: an intricate relationship.

Authors:  Grzegorz Nalepa; D Wade Clapp
Journal:  Nat Rev Cancer       Date:  2018-01-29       Impact factor: 60.716

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