Literature DB >> 21275958

Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.

Adrienne M Hammill, Mary A Risinger, Clinton H Joiner, Mehdi Keddache, Theodosia A Kalfa.   

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Year:  2011        PMID： 21275958      PMCID： PMC3105174          DOI： 10.1111/j.1365-2141.2010.08516.x

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


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  10 in total

1.  SIFT: Predicting amino acid changes that affect protein function.

Authors:  Pauline C Ng; Steven Henikoff
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

2.  Investigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (-) cells (mutations Chartres 1 and 2).

Authors:  Emile van den Akker; Timothy J Satchwell; Stephanie Pellegrin; Joanna F Flatt; Michel Maigre; Geoff Daniels; Jean Delaunay; Lesley J Bruce; Ashley M Toye
Journal:  Haematologica       Date:  2010-02-23       Impact factor: 9.941

3.  Protein-4.2 association with band 3 (AE1, SLCA4) in Xenopus oocytes: effects of three natural protein-4.2 mutations associated with hemolytic anemia.

Authors:  Ashley M Toye; Sandip Ghosh; Mark T Young; Graham K Jones; Richard B Sessions; Martine Ramaugé; Philippe Leclerc; Joyoti Basu; Jean Delaunay; Michael J A Tanner
Journal:  Blood       Date:  2005-02-03       Impact factor: 22.113

Review 4.  Protein 4.2: a complex linker.

Authors:  Timothy J Satchwell; Debbie K Shoemark; Richard B Sessions; Ashley M Toye
Journal:  Blood Cells Mol Dis       Date:  2009-03-09       Impact factor: 3.039

5.  Genotype/phenotype correlation in hereditary spherocytosis.

Authors:  Achille Iolascon; Rosa Anna Avvisati
Journal:  Haematologica       Date:  2008-09       Impact factor: 9.941

6.  Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the a subunit of factor XIII.

Authors:  C Korsgren; C M Cohen
Journal:  Proc Natl Acad Sci U S A       Date:  1991-06-01       Impact factor: 11.205

7.  A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.

Authors:  S Hayette; L Morle; M Bozon; A Ghanem; M Risinger; C Korsgren; M J Tanner; S Fattoum; C M Cohen; J Delaunay
Journal:  Br J Haematol       Date:  1995-04       Impact factor: 6.998

8.  A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane.

Authors:  Lesley J Bruce; Roland Beckmann; M Leticia Ribeiro; Luanne L Peters; Joel A Chasis; Jean Delaunay; Narla Mohandas; David J Anstee; Michael J A Tanner
Journal:  Blood       Date:  2003-01-16       Impact factor: 22.113

9.  Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.

Authors:  Lesley J Bruce; Sandip Ghosh; May Jean King; D Mark Layton; William J Mawby; Gordon W Stewart; Per-Arne Oldenborg; Jean Delaunay; Michael J A Tanner
Journal:  Blood       Date:  2002-09-01       Impact factor: 22.113

Review 10.  Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.

Authors:  Stefan Eber; Samuel E Lux
Journal:  Semin Hematol       Date:  2004-04       Impact factor: 3.851
  10 in total
  1 in total

1.  Red cell membrane disorders: structure meets function.

Authors:  Mary Risinger; Theodosia A Kalfa
Journal:  Blood       Date:  2020-09-10       Impact factor: 22.113
  1 in total

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