Literature DB >> 16670076

TERC mutations in children with refractory cytopenia.

Christina A Ortmann, Charlotte M Niemeyer, Angela Wawer, Wolfram Ebell, Irith Baumann, Christian P Kratz.   

Abstract

Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them.

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Year:  2006        PMID： 16670076

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


  13 in total

1.  Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?

Authors:  Axel Karow; Christian Flotho; Michaela Schneider; Manfred Fliegauf; Charlotte M Niemeyer
Journal:  Haematologica       Date:  2009-11-30       Impact factor: 9.941

Review 2.  Immunologic aspects of hypoplastic myelodysplastic syndrome.

Authors:  Rodrigo T Calado
Journal:  Semin Oncol       Date:  2011-10       Impact factor: 4.929

Review 3.  Familial myelodysplastic syndromes: a review of the literature.

Authors:  Elena Liew; Carolyn Owen
Journal:  Haematologica       Date:  2011-05-23       Impact factor: 9.941

Review 4.  It all comes together at the ends: telomerase structure, function, and biogenesis.

Authors:  Joshua D Podlevsky; Julian J-L Chen
Journal:  Mutat Res       Date:  2011-11-07       Impact factor: 2.433

5.  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

Review 6.  Telomere maintenance and human bone marrow failure.

Authors:  Rodrigo T Calado; Neal S Young
Journal:  Blood       Date:  2008-01-31       Impact factor: 22.113

7.  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

8.  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

9.  Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita.

Authors:  Frederick D Goldman; Geraldine Aubert; Al J Klingelhutz; Mark Hills; Sarah R Cooper; Wendy S Hamilton; Annette J Schlueter; Karen Lambie; Connie J Eaves; Peter M Lansdorp
Journal:  Blood       Date:  2008-02-29       Impact factor: 22.113

Review 10.  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
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