Literature DB >> 12801777

Human telomerase RNA mutations and bone marrow failure.

David B Wilson, Jennifer Ivanovich, Alison Whelan, Paul J Goodfellow, Monica Bessler.   

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Year:  2003        PMID： 12801777     DOI： 10.1016/S0140-6736(03)13575-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  9 in total

1.  TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Authors:  Hong-Yan Du; Elena Pumbo; Jennifer Ivanovich; Ping An; Richard T Maziarz; Ulrike M Reiss; Deborah Chirnomas; Akiko Shimamura; Adrianna Vlachos; Jeffrey M Lipton; Rakesh K Goyal; Frederick Goldman; David B Wilson; Philip J Mason; Monica Bessler
Journal:  Blood       Date:  2008-10-17       Impact factor: 22.113

2.  Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.

Authors:  Aaron R Robart; Kathleen Collins
Journal:  J Biol Chem       Date:  2009-12-17       Impact factor: 5.157

3.  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

4.  Telomere dysfunction in human diseases: the long and short of it!

Authors:  Kathryn A Carroll; Hinh Ly
Journal:  Int J Clin Exp Pathol       Date:  2009-05-10

5.  Genetic and environmental factors influencing human diseases with telomere dysfunction.

Authors:  Hinh Ly
Journal:  Int J Clin Exp Med       Date:  2009-05-31

6.  Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Authors:  Anna Marrone; Priya Sokhal; Amanda Walne; Richard Beswick; Michael Kirwan; Sally Killick; Mike Williams; Judith Marsh; Tom Vulliamy; Inderjeet Dokal
Journal:  Haematologica       Date:  2007-07-20       Impact factor: 9.941

7.  Disease-associated human telomerase RNA variants show loss of function for telomere synthesis without dominant-negative interference.

Authors:  Timothy M Errington; Dragony Fu; Judy M Y Wong; Kathleen Collins
Journal:  Mol Cell Biol       Date:  2008-08-18       Impact factor: 4.272

8.  Telomerase dysfunction and dyskeratosis congenita.

Authors:  Amanda J Walne; Inderjeet Dokal
Journal:  Cytotechnology       Date:  2004-06       Impact factor: 2.058

9.  Quantitative relationship between functionally active telomerase and major telomerase components (hTERT and hTR) in acute leukaemia cells.

Authors:  J H Ohyashiki; H Hisatomi; K Nagao; S Honda; T Takaku; Y Zhang; G Sashida; K Ohyashiki
Journal:  Br J Cancer       Date:  2005-05-23       Impact factor: 7.640
  9 in total

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