Literature DB >> 8874232

beta-Thalassemia mutation at -90C-->T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors.

P Faustino, J Lavinha, M G Marini, P Moi.   

Abstract

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Year:  1996        PMID： 8874232

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


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  7 in total

Review 1.  Erythropoiesis: development and differentiation.

Authors:  Elaine Dzierzak; Sjaak Philipsen
Journal:  Cold Spring Harb Perspect Med       Date:  2013-04-01       Impact factor: 6.915

2.  The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stability.

Authors:  Roy Drissen; Marieke von Lindern; Andrea Kolbus; Siska Driegen; Peter Steinlein; Hartmut Beug; Frank Grosveld; Sjaak Philipsen
Journal:  Mol Cell Biol       Date:  2005-06       Impact factor: 4.272

3.  The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy.

Authors:  Y Ge; K M LaFiura; A A Dombkowski; Q Chen; S G Payton; S A Buck; S Salagrama; A E Diakiw; L H Matherly; J W Taub
Journal:  Leukemia       Date:  2007-12-20       Impact factor: 11.528

4.  Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson's Disease.

Authors:  Xin Wang; Nuomin Li; Nian Xiong; Qi You; Jie Li; Jinlong Yu; Hong Qing; Tao Wang; Heather J Cordell; Ole Isacson; Jeffery M Vance; Eden R Martin; Ying Zhao; Bruce M Cohen; Edgar A Buttner; Zhicheng Lin
Journal:  Mol Neurobiol       Date:  2016-03-28       Impact factor: 5.590

5.  A functional mutation at position -155 in porcine APOE promoter affects gene expression.

Authors:  Shixin Li; Hao Zhang; Ping Gao; Zanmou Chen; Chong Wang; Jiaqi Li
Journal:  BMC Genet       Date:  2011-05-09       Impact factor: 2.797

6.  Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis.

Authors:  Ghazala Hashmi; Asim Qidwai; Kristopher Fernandez; Michael Seul
Journal:  BMC Med Genet       Date:  2020-05-15       Impact factor: 2.103

7.  Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--SEA /-α4.2 ).

Authors:  Hou Qian; Jianlin Huang; Ji Xu; Weihua Zhao; Xiufeng Ye; Wenlan Liu
Journal:  Mol Genet Genomic Med       Date:  2020-09-03       Impact factor: 2.183
  7 in total

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