Literature DB >> 25767920

What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis.

Susan E Stanley1, Imre Noth, Mary Armanios.   

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Year:  2015        PMID： 25767920      PMCID： PMC4384782          DOI： 10.1164/rccm.201501-0119ED

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  11 in total

1.  Telomerase mutations in smokers with severe emphysema.

Authors:  Susan E Stanley; Julian J L Chen; Joshua D Podlevsky; Jonathan K Alder; Nadia N Hansel; Rasika A Mathias; Xiaodong Qi; Nicholas M Rafaels; Robert A Wise; Edwin K Silverman; Kathleen C Barnes; Mary Armanios
Journal:  J Clin Invest       Date:  2014-12-22       Impact factor: 14.808

2.  Idiopathic pulmonary fibrosis: update on genetic discoveries.

Authors:  Christine Kim Garcia
Journal:  Proc Am Thorac Soc       Date:  2011-05

3.  Rare variants in RTEL1 are associated with familial interstitial pneumonia.

Authors:  Joy D Cogan; Jonathan A Kropski; Min Zhao; Daphne B Mitchell; Lynette Rives; Cheryl Markin; Errine T Garnett; Keri H Montgomery; Wendi R Mason; David F McKean; Julia Powers; Elissa Murphy; Lana M Olson; Leena Choi; Dong-Sheng Cheng; Elizabeth Marchani Blue; Lisa R Young; Lisa H Lancaster; Mark P Steele; Kevin K Brown; Marvin I Schwarz; Tasha E Fingerlin; David A Schwartz; William E Lawson; James E Loyd; Zhongming Zhao; John A Phillips; Timothy S Blackwell
Journal:  Am J Respir Crit Care Med       Date:  2015-03-15       Impact factor: 21.405

4.  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

5.  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

6.  Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.

Authors:  Jonathan K Alder; Susan E Stanley; Christa L Wagner; Makenzie Hamilton; Vidya Sagar Hanumanthu; Mary Armanios
Journal:  Chest       Date:  2015-05       Impact factor: 9.410

7.  Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein.

Authors:  Hao Ding; Mike Schertzer; Xiaoli Wu; Marina Gertsenstein; Sara Selig; Makoto Kammori; Reza Pourvali; Steven Poon; Irma Vulto; Elizabeth Chavez; Patrick P L Tam; Andras Nagy; Peter M Lansdorp
Journal:  Cell       Date:  2004-06-25       Impact factor: 41.582

8.  Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.

Authors:  Jonathan K Alder; Erin M Parry; Srinivasan Yegnasubramanian; Christa L Wagner; Lawrence M Lieblich; Robert Auerbach; Arleen D Auerbach; Sarah J Wheelan; Mary Armanios
Journal:  Hum Mutat       Date:  2013-09-11       Impact factor: 4.878

9.  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

10.  Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.

Authors:  Leann L Silhan; Pali D Shah; Daniel C Chambers; Laurie D Snyder; Gerdt C Riise; Christa L Wagner; Eva Hellström-Lindberg; Jonathan B Orens; Juliette F Mewton; Sonye K Danoff; Murat O Arcasoy; Mary Armanios
Journal:  Eur Respir J       Date:  2014-05-15       Impact factor: 16.671
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  3 in total

Review 1.  The molecular genetics of the telomere biology disorders.

Authors:  Alison A Bertuch
Journal:  RNA Biol       Date:  2015-09-23       Impact factor: 4.652

Review 2.  The short and long telomere syndromes: paired paradigms for molecular medicine.

Authors:  Susan E Stanley; Mary Armanios
Journal:  Curr Opin Genet Dev       Date:  2015-07-29       Impact factor: 5.578

Review 3.  European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS).

Authors:  Javier Egea; Isabel Fabregat; Yves M Frapart; Pietro Ghezzi; Agnes Görlach; Thomas Kietzmann; Kateryna Kubaichuk; Ulla G Knaus; Manuela G Lopez; Gloria Olaso-Gonzalez; Andreas Petry; Rainer Schulz; Jose Vina; Paul Winyard; Kahina Abbas; Opeyemi S Ademowo; Catarina B Afonso; Ioanna Andreadou; Haike Antelmann; Fernando Antunes; Mutay Aslan; Markus M Bachschmid; Rui M Barbosa; Vsevolod Belousov; Carsten Berndt; David Bernlohr; Esther Bertrán; Alberto Bindoli; Serge P Bottari; Paula M Brito; Guia Carrara; Ana I Casas; Afroditi Chatzi; Niki Chondrogianni; Marcus Conrad; Marcus S Cooke; João G Costa; Antonio Cuadrado; Pham My-Chan Dang; Barbara De Smet; Bilge Debelec-Butuner; Irundika H K Dias; Joe Dan Dunn; Amanda J Edson; Mariam El Assar; Jamel El-Benna; Péter Ferdinandy; Ana S Fernandes; Kari E Fladmark; Ulrich Förstermann; Rashid Giniatullin; Zoltán Giricz; Anikó Görbe; Helen Griffiths; Vaclav Hampl; Alina Hanf; Jan Herget; Pablo Hernansanz-Agustín; Melanie Hillion; Jingjing Huang; Serap Ilikay; Pidder Jansen-Dürr; Vincent Jaquet; Jaap A Joles; Balaraman Kalyanaraman; Danylo Kaminskyy; Mahsa Karbaschi; Marina Kleanthous; Lars-Oliver Klotz; Bato Korac; Kemal Sami Korkmaz; Rafal Koziel; Damir Kračun; Karl-Heinz Krause; Vladimír Křen; Thomas Krieg; João Laranjinha; Antigone Lazou; Huige Li; Antonio Martínez-Ruiz; Reiko Matsui; Gethin J McBean; Stuart P Meredith; Joris Messens; Verónica Miguel; Yuliya Mikhed; Irina Milisav; Lidija Milković; Antonio Miranda-Vizuete; Miloš Mojović; María Monsalve; Pierre-Alexis Mouthuy; John Mulvey; Thomas Münzel; Vladimir Muzykantov; Isabel T N Nguyen; Matthias Oelze; Nuno G Oliveira; Carlos M Palmeira; Nikoletta Papaevgeniou; Aleksandra Pavićević; Brandán Pedre; Fabienne Peyrot; Marios Phylactides; Gratiela G Pircalabioru; Andrew R Pitt; Henrik E Poulsen; Ignacio Prieto; Maria Pia Rigobello; Natalia Robledinos-Antón; Leocadio Rodríguez-Mañas; Anabela P Rolo; Francis Rousset; Tatjana Ruskovska; Nuno Saraiva; Shlomo Sasson; Katrin Schröder; Khrystyna Semen; Tamara Seredenina; Anastasia Shakirzyanova; Geoffrey L Smith; Thierry Soldati; Bebiana C Sousa; Corinne M Spickett; Ana Stancic; Marie José Stasia; Holger Steinbrenner; Višnja Stepanić; Sebastian Steven; Kostas Tokatlidis; Erkan Tuncay; Belma Turan; Fulvio Ursini; Jan Vacek; Olga Vajnerova; Kateřina Valentová; Frank Van Breusegem; Lokman Varisli; Elizabeth A Veal; A Suha Yalçın; Olha Yelisyeyeva; Neven Žarković; Martina Zatloukalová; Jacek Zielonka; Rhian M Touyz; Andreas Papapetropoulos; Tilman Grune; Santiago Lamas; Harald H H W Schmidt; Fabio Di Lisa; Andreas Daiber
Journal:  Redox Biol       Date:  2017-05-18       Impact factor: 11.799
  3 in total

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