Literature DB >> 9590276

Dyskeratosis and ribosomal rebellion.

L Luzzatto, A Karadimitris.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9590276     DOI： 10.1038/ng0598-6

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  16 in total

1.  Cell biology: Arrest by ribosome.

Authors:  Sébastien Ferreira-Cerca; Ed Hurt
Journal:  Nature       Date:  2009-05-07       Impact factor: 49.962

Review 2.  Dyskeratosis congenita: a disorder of defective telomere maintenance?

Authors:  Amanda J Walne; Anna Marrone; Inderjeet Dokal
Journal:  Int J Hematol       Date:  2005-10       Impact factor: 2.490

3.  L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway.

Authors:  Elspeth M Payne; Maria Virgilio; Anupama Narla; Hong Sun; Michelle Levine; Barry H Paw; Nancy Berliner; A Thomas Look; Benjamin L Ebert; Arati Khanna-Gupta
Journal:  Blood       Date:  2012-06-25       Impact factor: 22.113

4.  X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Authors:  S W Knight; N S Heiss; T J Vulliamy; S Greschner; G Stavrides; G S Pai; G Lestringant; N Varma; P J Mason; I Dokal; A Poustka
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

Review 5.  Dyskeratosis congenita, stem cells and telomeres.

Authors:  Michael Kirwan; Inderjeet Dokal
Journal:  Biochim Biophys Acta       Date:  2009-02-07

6.  Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Authors:  Yelena Bykhovskaya; Kari Casas; Emebet Mengesha; Aida Inbal; Nathan Fischel-Ghodsian
Journal:  Am J Hum Genet       Date:  2004-04-22       Impact factor: 11.025

Review 7.  Telomere maintenance and human bone marrow failure.

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

8.  Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Authors:  Nicholas Burwick; Scott A Coats; Tomoka Nakamura; Akiko Shimamura
Journal:  Blood       Date:  2012-10-31       Impact factor: 22.113

9.  Telomerase dysfunction and dyskeratosis congenita.

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

10.  The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

Authors:  Ilenia Boria; Emanuela Garelli; Hanna T Gazda; Anna Aspesi; Paola Quarello; Elisa Pavesi; Daniela Ferrante; Joerg J Meerpohl; Mutlu Kartal; Lydie Da Costa; Alexis Proust; Thierry Leblanc; Maud Simansour; Niklas Dahl; Anne-Sophie Fröjmark; Dagmar Pospisilova; Radek Cmejla; Alan H Beggs; Mee R Sheen; Michael Landowski; Christopher M Buros; Catherine M Clinton; Lori J Dobson; Adrianna Vlachos; Eva Atsidaftos; Jeffrey M Lipton; Steven R Ellis; Ugo Ramenghi; Irma Dianzani
Journal:  Hum Mutat       Date:  2010-12       Impact factor: 4.878
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.