Literature DB >> 27587879

A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding.

Baris Boyraz1,2,3,4,5, Courtney M Bellomo6, Mark D Fleming7, Corey S Cutler8, Suneet Agarwal1,2,3,4.   

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Year:  2016        PMID： 27587879      PMCID： PMC5073186          DOI： 10.1182/blood-2016-04-710160

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  28 in total

Review 1.  Telomerase RNA levels limit the telomere length equilibrium.

Authors:  C W Greider
Journal:  Cold Spring Harb Symp Quant Biol       Date:  2006

2.  Structural basis for protein-RNA recognition in telomerase.

Authors:  Jing Huang; Andrew F Brown; Jian Wu; Jing Xue; Christopher J Bley; Dustin P Rand; Lijie Wu; Rongguang Zhang; Julian J-L Chen; Ming Lei
Journal:  Nat Struct Mol Biol       Date:  2014-05-04       Impact factor: 15.369

3.  Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.

Authors:  Erik R Westin; Elizabeth Chavez; Kimberly M Lee; Francoise A Gourronc; Soraya Riley; Peter M Lansdorp; Frederick D Goldman; Aloysius J Klingelhutz
Journal:  Aging Cell       Date:  2007-03-23       Impact factor: 9.304

4.  Functional characterization of telomerase RNA variants found in patients with hematologic disorders.

Authors:  Hinh Ly; Rodrigo T Calado; Paulette Allard; Gabriela M Baerlocher; Peter M Lansdorp; Neal S Young; Tristram G Parslow
Journal:  Blood       Date:  2004-11-18       Impact factor: 22.113

5.  Reverse transcriptase motifs in the catalytic subunit of telomerase.

Authors:  J Lingner; T R Hughes; A Shevchenko; M Mann; V Lundblad; T R Cech
Journal:  Science       Date:  1997-04-25       Impact factor: 47.728

6.  Constitutional telomerase mutations are genetic risk factors for cirrhosis.

Authors:  Rodrigo T Calado; Jennifer Brudno; Paulomi Mehta; Joseph J Kovacs; Colin Wu; Marco A Zago; Stephen J Chanock; Thomas D Boyer; Neal S Young
Journal:  Hepatology       Date:  2011-05       Impact factor: 17.425

7.  Human telomere disease due to disruption of the CCAAT box of the TERC promoter.

Authors:  Anna M Aalbers; Sachiko Kajigaya; Marry M van den Heuvel-Eibrink; Vincent H J van der Velden; Rodrigo T Calado; Neal S Young
Journal:  Blood       Date:  2012-02-08       Impact factor: 22.113

8.  Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.

Authors:  Patrick F Fogarty; Hiroki Yamaguchi; Adrian Wiestner; Gabriela M Baerlocher; Elaine Sloand; Weihua S Zeng; Elizabeth J Read; Peter M Lansdorp; Neal S Young
Journal:  Lancet       Date:  2003-11-15       Impact factor: 79.321

9.  Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes.

Authors:  Takeuchi Junko; Hinh Ly; Hiroki Yamaguchi; Kathryn A Carroll; Kosaka Fumiko; Sawaguchi Kazuhiro; Mitamura Yoshio; Watanabe Ayako; Gomi Seiji; Inokuchi Koiti; Kazuo Dan
Journal:  Blood Cells Mol Dis       Date:  2007-10-23       Impact factor: 3.039

Review 10.  Molecular basis of telomere dysfunction in human genetic diseases.

Authors:  Grzegorz Sarek; Paulina Marzec; Pol Margalef; Simon J Boulton
Journal:  Nat Struct Mol Biol       Date:  2015-11       Impact factor: 15.369
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  5 in total

Review 1.  How RNAi machinery enters the world of telomerase.

Authors:  Ilaria Laudadio; Claudia Carissimi; Valerio Fulci
Journal:  Cell Cycle       Date:  2019-05-07       Impact factor: 4.534

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.  AGO2 promotes telomerase activity and interaction between the telomerase components TERT and TERC.

Authors:  Ilaria Laudadio; Francesca Orso; Gianluca Azzalin; Carlo Calabrò; Francesco Berardinelli; Elisa Coluzzi; Silvia Gioiosa; Daniela Taverna; Antonella Sgura; Claudia Carissimi; Valerio Fulci
Journal:  EMBO Rep       Date:  2018-12-27       Impact factor: 8.807

Review 4.  Telomerase RNA processing: Implications for human health and disease.

Authors:  Neha Nagpal; Suneet Agarwal
Journal:  Stem Cells       Date:  2020-09-01       Impact factor: 6.277

5.  Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis.

Authors:  Jesús García-Castillo; Francisca Alcaraz-Pérez; Elena Martínez-Balsalobre; Diana García-Moreno; Marlies P Rossmann; Miriam Fernández-Lajarín; Manuel Bernabé-García; Ana B Pérez-Oliva; Virginia C Rodríguez-Cortez; Clara Bueno; Isaac Adatto; Suneet Agarwal; Pablo Menéndez; Leonard I Zon; Victoriano Mulero; María L Cayuela
Journal:  Proc Natl Acad Sci U S A       Date:  2021-08-10       Impact factor: 11.205
  5 in total

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