Literature DB >> 1581206

Dominant beta thalassaemia: molecular basis and pathophysiology.

S L Thein1.   

Abstract

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Year:  1992        PMID： 1581206     DOI： 10.1111/j.1365-2141.1992.tb08132.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  10 in total

1.  Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells.

Authors:  J Zhang; L E Maquat
Journal:  EMBO J       Date:  1997-02-17       Impact factor: 11.598

2.  Defects in RNA splicing and the consequence of shortened translational reading frames.

Authors:  L E Maquat
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

3.  Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG).

Authors:  H-Y Luo; W Tang; S H Eung; J E Coad; P Canfield; F Keller; E H Crowell; M H Steinberg; D H K Chui
Journal:  J Clin Pathol       Date:  2005-10       Impact factor: 3.411

Review 4.  When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Authors:  L E Maquat
Journal:  RNA       Date:  1995-07       Impact factor: 4.942

Review 5.  Beta-thalassaemia prototype of a single gene disorder with multiple phenotypes.

Authors:  Swee Lay Thein
Journal:  Int J Hematol       Date:  2002-08       Impact factor: 2.490

6.  Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein.

Authors:  S E Applequist; M Selg; C Raman; H M Jäck
Journal:  Nucleic Acids Res       Date:  1997-02-15       Impact factor: 16.971

7.  Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen.

Authors:  Shouichi Ohga; Akihiko Nomura; Hidetoshi Takada; Junko Kato; Hiroshi Ideguchi; Yukio Hattori; Masahiro Suda; Sachiyo Suita; Toshiro Hara
Journal:  Int J Hematol       Date:  2003-11       Impact factor: 2.490

Review 8.  Beta-thalassemia.

Authors:  Renzo Galanello; Raffaella Origa
Journal:  Orphanet J Rare Dis       Date:  2010-05-21       Impact factor: 4.123

Review 9.  Ineffective Erythropoiesis in β-Thalassaemia: Key Steps and Therapeutic Options by Drugs.

Authors:  Filomena Longo; Andrea Piolatto; Giovanni Battista Ferrero; Antonio Piga
Journal:  Int J Mol Sci       Date:  2021-07-05       Impact factor: 5.923

Review 10.  The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Authors:  Cornelis L Harteveld; Ahlem Achour; Sandra J G Arkesteijn; Jeanet Ter Huurne; Maaike Verschuren; Sharda Bhagwandien-Bisoen; Rianne Schaap; Linda Vijfhuizen; Hakima El Idrissi; Tamara T Koopmann
Journal:  Int J Lab Hematol       Date:  2022-09       Impact factor: 3.450
  10 in total

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