Literature DB >> 20864588

Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease.

Maria Carla Sollaino, Maria Elisabetta Paglietti, Daniela Loi, Rita Congiu, Rosanna Podda, Renzo Galanello.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2010        PMID: 20864588     DOI: 10.1182/blood-2010-04-281345

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


× No keyword cloud information.
  5 in total

1.  Two atypical forms of HbH disease in Sardinia.

Authors:  Maria Elisabetta Paglietti; Maria Carla Sollaino; Daniela Loi; Francesca Sarra; Eleonora Zaccheddu; Renzo Galanello
Journal:  Haematologica       Date:  2011-07-12       Impact factor: 9.941

2.  Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing.

Authors:  Zhiming Li; Xuan Shang; Shiqiang Luo; Fei Zhu; Xiaofeng Wei; Wanjun Zhou; Yuhua Ye; Tizhen Yan; Ren Cai; Xiangmin Xu
Journal:  Mol Genet Genomics       Date:  2020-01-02       Impact factor: 3.291

Review 3.  The role of globins in cardiovascular physiology.

Authors:  T C Stevenson Keller; Christophe Lechauve; Alexander S Keller; Steven Brooks; Mitchell J Weiss; Linda Columbus; Hans Ackerman; Miriam M Cortese-Krott; Brant E Isakson
Journal:  Physiol Rev       Date:  2021-09-06       Impact factor: 37.312

Review 4.  Uncovering enhancer functions using the α-globin locus.

Authors:  Douglas Vernimmen
Journal:  PLoS Genet       Date:  2014-10-16       Impact factor: 5.917

5.  Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Authors:  Laura M Raffield; Jacob C Ulirsch; Rakhi P Naik; Samuel Lessard; Robert E Handsaker; Deepti Jain; Hyun M Kang; Nathan Pankratz; Paul L Auer; Erik L Bao; Joshua D Smith; Leslie A Lange; Ethan M Lange; Yun Li; Timothy A Thornton; Bessie A Young; Goncalo R Abecasis; Cathy C Laurie; Deborah A Nickerson; Steven A McCarroll; Adolfo Correa; James G Wilson; Guillaume Lettre; Vijay G Sankaran; Alex P Reiner
Journal:  PLoS Genet       Date:  2018-03-28       Impact factor: 5.917

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.