Literature DB >> 16019463

AHSP and beta-thalassemia: a possible genetic modifier.

Camila Oresco dos Santos1, Fernando Ferreira Costa.   

Abstract

The identification of defectives genes underlying inherited diseases has made it clear that patients with the same genotype can have variable clinical expression. Suggestions proposing that the protein AHSP, a alpha-globin specific chaperone could influence disease severity in patients with beta-thalassemia, an inherited disorder characterized by a quantitative deficiency of beta-globin genes. This article presents a review of the AHSP gene structure, function and expression. A discussion of the AHSP gene acknowledgements is presented with an overview of the possible genetic modifier function of AHSP on beta-thalassemia pathophysiology.

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Year:  2005        PMID: 16019463     DOI: 10.1080/10245330500067280

Source DB:  PubMed          Journal:  Hematology        ISSN: 1024-5332            Impact factor:   2.269


  5 in total

Review 1.  Chaperoning erythropoiesis.

Authors:  Mitchell J Weiss; Camila O dos Santos
Journal:  Blood       Date:  2008-12-24       Impact factor: 22.113

2.  Alterations in expression and chromatin configuration of the alpha hemoglobin-stabilizing protein gene in erythroid Kruppel-like factor-deficient mice.

Authors:  Andre M Pilon; Douglas G Nilson; Dewang Zhou; Jose Sangerman; Tim M Townes; David M Bodine; Patrick G Gallagher
Journal:  Mol Cell Biol       Date:  2006-06       Impact factor: 4.272

3.  Alpha-hemoglobin-stabilizing protein (AHSP) in hemolysis, elevated liver enzyme, and low platelet (HELLP) syndrome, intrauterine growth restriction (IUGR) and fetal death.

Authors:  Monica Emanuelli; Davide Sartini; Valentina Rossi; Alessandra Corradetti; Beatrice Landi; Claudia Regina Vianna; Stefano Giannubilo; Andrea Luigi Tranquilli
Journal:  Cell Stress Chaperones       Date:  2008-02-06       Impact factor: 3.667

4.  Placental Alpha Hemoglobin Stabilizing Protein (AHSP) and recurrent miscarriage.

Authors:  Monica Emanuelli; Monia Cecati; Davide Sartini; Piergiorgio Stortoni; Alessandra Corradetti; Stefano R Giannubilo; Angelo Turi; Andrea L Tranquilli
Journal:  Cell Stress Chaperones       Date:  2008-08-15       Impact factor: 3.667

Review 5.  Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis.

Authors:  Cristian Antonio Caria; Valeria Faà; Maria Serafina Ristaldi
Journal:  Cells       Date:  2022-09-29       Impact factor: 7.666

  5 in total

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