Literature DB >> 25682598

Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region.

Ali Amid1, Melina Cheong1, Barry Eng2, Meredith Hanna2, Betty-Ann Hohenadel2, Lisa M Nakamura2, Lynda Walker2, Isaac Odame1, Melanie Kirby-Allen1, John S Waye3.   

Abstract

Entities:  

Keywords:  DNase I hypersensitive sites; Hb S/β+-thalassemia; locus control region; novel deletion

Mesh：

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Year:  2015        PMID： 25682598      PMCID： PMC4420222          DOI： 10.3324/haematol.2014.117408

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


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  14 in total

Review 1.  Locus control regions.

Authors:  Qiliang Li; Kenneth R Peterson; Xiangdong Fang; George Stamatoyannopoulos
Journal:  Blood       Date:  2002-11-01       Impact factor: 22.113

2.  Effect of deletion of 5'HS3 or 5'HS2 of the human beta-globin locus control region on the developmental regulation of globin gene expression in beta-globin locus yeast artificial chromosome transgenic mice.

Authors:  K R Peterson; C H Clegg; P A Navas; E J Norton; T G Kimbrough; G Stamatoyannopoulos
Journal:  Proc Natl Acad Sci U S A       Date:  1996-06-25       Impact factor: 11.205

3.  Automated HPLC screening of newborns for sickle cell anemia and other hemoglobinopathies.

Authors:  J W Eastman; R Wong; C L Liao; D R Morales
Journal:  Clin Chem       Date:  1996-05       Impact factor: 8.327

4.  The hypersensitive sites of the murine β-globin locus control region act independently to affect nuclear localization and transcriptional elongation.

Authors:  M A Bender; Tobias Ragoczy; Jongjoo Lee; Rachel Byron; Agnes Telling; Ann Dean; Mark Groudine
Journal:  Blood       Date:  2012-02-29       Impact factor: 22.113

5.  Hypersensitive site 2 specifies a unique function within the human beta-globin locus control region to stimulate globin gene transcription.

Authors:  J Bungert; K Tanimoto; S Patel; Q Liu; M Fear; J D Engel
Journal:  Mol Cell Biol       Date:  1999-04       Impact factor: 4.272

6.  A novel deletion/insertion caused by a replication error in the β-globin gene locus control region.

Authors:  Philippe Joly; Philippe Lacan; Caroline Garcia; Roland Meley; Corinne Pondarré; Alain Francina
Journal:  Hemoglobin       Date:  2011       Impact factor: 0.849

7.  Hb S-β-thalassemia: molecular, hematological and clinical comparisons.

Authors:  Graham R Serjeant; Beryl E Serjeant; Raphael A Fraser; Ian R Hambleton; Douglas R Higgs; Andreas E Kulozik; Alan Donaldson
Journal:  Hemoglobin       Date:  2011       Impact factor: 0.849

8.  The proximal element of the beta globin locus control region is not functionally required in vivo.

Authors:  A E Kulozik; S Bail; A Bellan-Koch; C R Bartram; E Kohne; E Kleihauer
Journal:  J Clin Invest       Date:  1991-06       Impact factor: 14.808

9.  Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

Authors:  M C Driscoll; C S Dobkin; B P Alter
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

10.  Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

Authors:  Belinda Giardine; Joseph Borg; Emmanouil Viennas; Cristiana Pavlidis; Kamran Moradkhani; Philippe Joly; Marina Bartsakoulia; Cathy Riemer; Webb Miller; Giannis Tzimas; Henri Wajcman; Ross C Hardison; George P Patrinos
Journal:  Nucleic Acids Res       Date:  2013-10-16       Impact factor: 16.971
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  1 in total

1.  RS12574989 and haplotype associated with α/β-chain imbalance and population HbA2 reduction.

Authors:  Qiyin Lin; Yingjun Xie; Xuan Zhong; Xiaofang Sun; Ding Wang
Journal:  BMC Med Genomics       Date:  2022-08-15       Impact factor: 3.622
  1 in total

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