Literature DB >> 28495916

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Shirleny R Cardoso1, Alicia C M Ellison2, Amanda J Walne2, David Cassiman3, Manoj Raghavan4, Bhuvan Kishore5, Philip Ancliff6, Carmen Rodríguez-Vigil7, Bieke Dobbels3, Ana Rio-Machin8, Ahad F H Al Seraihi8, Nikolas Pontikos9, Hemanth Tummala2, Tom Vulliamy2, Inderjeet Dokal2.   

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Year:  2017        PMID： 28495916      PMCID： PMC6643735          DOI： 10.3324/haematol.2017.167056

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

1.  Ku suppresses formation of telomeric circles and alternative telomere lengthening in Arabidopsis.

Authors:  Barbara Zellinger; Svetlana Akimcheva; Jasna Puizina; Martina Schirato; Karel Riha
Journal:  Mol Cell       Date:  2007-07-06       Impact factor: 17.970

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

Authors:  Zhong Deng; Galina Glousker; Aliah Molczan; Alan J Fox; Noa Lamm; Jayaraju Dheekollu; Orr-El Weizman; Michael Schertzer; Zhuo Wang; Olga Vladimirova; Jonathan Schug; Memet Aker; Arturo Londoño-Vallejo; Klaus H Kaestner; Paul M Lieberman; Yehuda Tzfati
Journal:  Proc Natl Acad Sci U S A       Date:  2013-08-19       Impact factor: 11.205

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.  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

7.  Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Authors:  Laurent Jullien; Caroline Kannengiesser; Laetitia Kermasson; Valérie Cormier-Daire; Thierry Leblanc; Jean Soulier; Arturo Londono-Vallejo; Jean-Pierre de Villartay; Isabelle Callebaut; Patrick Revy
Journal:  Hum Mutat       Date:  2016-02-23       Impact factor: 4.878

8.  A spectrum of severe familial liver disorders associate with telomerase mutations.

Authors:  Rodrigo T Calado; Joshua A Regal; David E Kleiner; David S Schrump; Nathan R Peterson; Veronica Pons; Stephen J Chanock; Peter M Lansdorp; Neal S Young
Journal:  PLoS One       Date:  2009-11-20       Impact factor: 3.240

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.  Telomere length measurement by a novel monochrome multiplex quantitative PCR method.

Authors:  Richard M Cawthon
Journal:  Nucleic Acids Res       Date:  2009-01-07       Impact factor: 16.971
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  8 in total

1.  A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.

Authors:  Fernanda Gutierrez-Rodrigues; Nohad Masri; Eliane Chouery; Carrie Diamond; Nadine Jalkh; Alana Vicente; Sachiko Kajigaya; Fayez Abillama; Noha Bejjani; Wassim Serhal; Rodrigo T Calado; Neal S Young; Hussein Farhat; Marie Louise Coussa
Journal:  Hum Genet       Date:  2019-11-01       Impact factor: 4.132

Review 2.  Genetics of human telomere biology disorders.

Authors:  Patrick Revy; Caroline Kannengiesser; Alison A Bertuch
Journal:  Nat Rev Genet       Date:  2022-09-23       Impact factor: 59.581

3.  Disease progression and clinical outcomes in telomere biology disorders.

Authors:  Marena R Niewisch; Neelam Giri; Lisa J McReynolds; Rotana Alsaggaf; Sonia Bhala; Blanche P Alter; Sharon A Savage
Journal:  Blood       Date:  2022-03-24       Impact factor: 25.476

Review 4.  Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.

Authors:  Kristen E Schratz; Amy E DeZern
Journal:  Hematol Oncol Clin North Am       Date:  2020-01-06       Impact factor: 3.722

5.  Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Authors:  Elena G Arias-Salgado; Eva Galvez; Lurdes Planas-Cerezales; Laura Pintado-Berninches; Elena Vallespin; Pilar Martinez; Jaime Carrillo; Laura Iarriccio; Anna Ruiz-Llobet; Albert Catalá; Isabel Badell-Serra; Luis I Gonzalez-Granado; Andrea Martín-Nalda; Mónica Martínez-Gallo; Ana Galera-Miñarro; Carmen Rodríguez-Vigil; Mariana Bastos-Oreiro; Guiomar Perez de Nanclares; Virginia Leiro-Fernández; Maria-Luz Uria; Cristina Diaz-Heredia; Claudia Valenzuela; Sara Martín; Belén López-Muñiz; Pablo Lapunzina; Julian Sevilla; María Molina-Molina; Rosario Perona; Leandro Sastre
Journal:  Orphanet J Rare Dis       Date:  2019-04-17       Impact factor: 4.123

6.  Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation.

Authors:  Victor Chiu; Rachel Hogen; Linda Sher; Niquelle Wadé; David Conti; Anastasia Martynova; Hongtao Li; Gangning Liang; Casey O'Connell
Journal:  Hepatology       Date:  2019-04-09       Impact factor: 17.425

7.  Compound heterozygous mutation of RTEL1 in interstitial lung disease complicated with pneumothorax and emphysema: A case report and literature review.

Authors:  Man Luo; Jiao-Li Wang
Journal:  Respirol Case Rep       Date:  2022-09-06

8.  The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Authors:  Ana Rio-Machin; Tom Vulliamy; Nele Hug; Amanda Walne; Kiran Tawana; Shirleny Cardoso; Alicia Ellison; Nikolas Pontikos; Jun Wang; Hemanth Tummala; Ahad Fahad H Al Seraihi; Jenna Alnajar; Findlay Bewicke-Copley; Hannah Armes; Michael Barnett; Adrian Bloor; Csaba Bödör; David Bowen; Pierre Fenaux; Andrew Green; Andrew Hallahan; Henrik Hjorth-Hansen; Upal Hossain; Sally Killick; Sarah Lawson; Mark Layton; Alison M Male; Judith Marsh; Priyanka Mehta; Rogier Mous; Josep F Nomdedéu; Carolyn Owen; Jiri Pavlu; Elspeth M Payne; Rachel E Protheroe; Claude Preudhomme; Nuria Pujol-Moix; Aline Renneville; Nigel Russell; Anand Saggar; Gabriela Sciuccati; David Taussig; Cynthia L Toze; Anne Uyttebroeck; Peter Vandenberghe; Brigitte Schlegelberger; Tim Ripperger; Doris Steinemann; John Wu; Joanne Mason; Paula Page; Susanna Akiki; Kim Reay; Jamie D Cavenagh; Vincent Plagnol; Javier F Caceres; Jude Fitzgibbon; Inderjeet Dokal
Journal:  Nat Commun       Date:  2020-02-25       Impact factor: 14.919
  8 in total

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