Literature DB >> 23812938

South-Italy β°-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with β°-thalassemia and high levels of HbF.

Maria De Angioletti, Vincenzo Sabato, Gennaro Musollino, Romeo Prezioso, Clementina Carestia, Giuseppina Lacerra.   

Abstract

Entities:  

Keywords:  HbF; β-globin gene deletion; β-thalassemia; γ-globin gene regulation

Mesh：

Substances：

Year:  2013        PMID： 23812938      PMCID： PMC3729893          DOI： 10.3324/haematol.2013.089722

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


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  14 in total

Review 1.  Databases of human hemoglobin variants and other resources at the globin gene server.

Authors:  R C Hardison; D H Chui; C Riemer; B Giardine; H Lehväslaiho; H Wajcman; W Miller
Journal:  Hemoglobin       Date:  2001-05       Impact factor: 0.849

2.  Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.

Authors:  Giuseppina Lacerra; Gennaro Musollino; Clelia Scarano; Laura F Lagona; Daniela G Caruso; Rosario Testa; Romeo Prezioso; Francesca Di Noce; Emilia Medulla; Maria G Friscia; Lucia Mastrullo; Mercedes Caldora; Lucia Nota; Carlo Gaudiano; Carmelo Magnano; Calogero Ciaccio; Maria A Romeo; Clementina Carestia
Journal:  Gene       Date:  2007-12-14       Impact factor: 3.688

3.  Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

Authors:  Vijay G Sankaran; Tobias F Menne; Jian Xu; Thomas E Akie; Guillaume Lettre; Ben Van Handel; Hanna K A Mikkola; Joel N Hirschhorn; Alan B Cantor; Stuart H Orkin
Journal:  Science       Date:  2008-12-04       Impact factor: 47.728

4.  A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.

Authors:  John J Farrell; Richard M Sherva; Zhi-Yi Chen; Hong-Yuan Luo; Benjamin F Chu; Shau Yin Ha; Chi Kong Li; Anselm C W Lee; Rever C H Li; Chi Keung Li; Hui Leung Yuen; Jason C C So; Edmond S K Ma; Li Chong Chan; Vivian Chan; Paola Sebastiani; Lindsay A Farrer; Clinton T Baldwin; Martin H Steinberg; David H K Chui
Journal:  Blood       Date:  2011-03-08       Impact factor: 22.113

5.  A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints.

Authors:  D L Mager; P S Henthorn; O Smithies
Journal:  Nucleic Acids Res       Date:  1985-09-25       Impact factor: 16.971

6.  A functional element necessary for fetal hemoglobin silencing.

Authors:  Vijay G Sankaran; Jian Xu; Rachel Byron; Harvey A Greisman; Chris Fisher; David J Weatherall; Daniel E Sabath; Mark Groudine; Stuart H Orkin; Anuja Premawardhena; M A Bender
Journal:  N Engl J Med       Date:  2011-09-01       Impact factor: 91.245

7.  Beta-thalassaemia-87 C-->G: relationship of the Hb F modulation and polymorphisms in compound heterozygous patients.

Authors:  Maria De Angioletti; Giuseppina Lacerra; Leonilde Pagano; Mario Alessi; Rossana D'Avino; Laura Manca; Clementina Carestia
Journal:  Br J Haematol       Date:  2004-09       Impact factor: 6.998

8.  Mild beta-thalassemia intermedia caused by compound heterozygosity for (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia and molecular characterization of the defect in four Chinese families.

Authors:  Mary Anne Tan Jin Ai; Sook Fan Yap; Kim Lian Tan; Yean Ching Wong; Yong Chui Wee; Juan Loong Kok
Journal:  Acta Haematol       Date:  2003       Impact factor: 2.195

Review 9.  A retrovirus-like element occurs between the 3' breakpoints of two large deletions in the human beta-globin gene cluster.

Authors:  D L Mager; P S Henthorn
Journal:  Prog Clin Biol Res       Date:  1985

10.  Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

Authors:  Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Lucia Perseu; Stefania Satta; Maria Dolores Cipollina; Carla Sollaino; Paolo Moi; Joel N Hirschhorn; Stuart H Orkin; Gonçalo R Abecasis; David Schlessinger; Antonio Cao
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-01       Impact factor: 11.205
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