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Items: 1 to 20 of 101

1.

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Menzel S, Garner C, Gut I, Matsuda F, Yamaguchi M, Heath S, Foglio M, Zelenika D, Boland A, Rooks H, Best S, Spector TD, Farrall M, Lathrop M, Thein SL.

Nat Genet. 2007 Oct;39(10):1197-9. Epub 2007 Sep 2.

PMID:
17767159
2.

BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.

Sedgewick AE, Timofeev N, Sebastiani P, So JCC, Ma ESK, Chan LC, Fucharoen G, Fucharoen S, Barbosa CG, Vardarajan BN, Farrer LA, Baldwin CT, Steinberg MH, Chui DHK.

Blood Cells Mol Dis. 2008 Nov-Dec;41(3):255-258. doi: 10.1016/j.bcmd.2008.06.007. Epub 2008 Aug 8.

3.

Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin.

Bauer DE, Orkin SH.

Curr Opin Genet Dev. 2015 Aug;33:62-70. doi: 10.1016/j.gde.2015.08.001. Epub 2015 Sep 14. Review.

4.

Annotated definition of BCL11A and HMIP-2 haplotypes through the analysis of sicilian β-thalassemia patients with high levels of fetal hemoglobin.

Buccheri MA, Spina S, Ruberto C, Lombardo T, Labie D, Ragusa AA.

Hemoglobin. 2013;37(5):423-34. doi: 10.3109/03630269.2013.800823. Epub 2013 Jun 19.

PMID:
23777413
5.

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH.

Blood. 2010 Mar 4;115(9):1815-22. doi: 10.1182/blood-2009-08-239517. Epub 2009 Dec 16.

6.

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.

Thein SL, Menzel S, Peng X, Best S, Jiang J, Close J, Silver N, Gerovasilli A, Ping C, Yamaguchi M, Wahlberg K, Ulug P, Spector TD, Garner C, Matsuda F, Farrall M, Lathrop M.

Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11346-51. Epub 2007 Jun 25.

7.

[Progress on genes related to fetal hemoglobin quantitative trait].

Guo XQ.

Yi Chuan. 2010 Apr;32(4):295-300. Review. Chinese.

PMID:
20423883
8.

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

Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A.

Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1620-5. doi: 10.1073/pnas.0711566105. Epub 2008 Feb 1.

9.

Discovering the genetics underlying foetal haemoglobin production in adults.

Thein SL, Menzel S.

Br J Haematol. 2009 May;145(4):455-67. doi: 10.1111/j.1365-2141.2009.07650.x. Epub 2008 Mar 2. Review.

PMID:
19344402
10.

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR.

J Hum Genet. 2011 Apr;56(4):316-23. doi: 10.1038/jhg.2011.12. Epub 2011 Feb 17.

PMID:
21326311
11.

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.

Funnell AP, Prontera P, Ottaviani V, Piccione M, Giambona A, Maggio A, Ciaffoni F, Stehling-Sun S, Marra M, Masiello F, Varricchio L, Stamatoyannopoulos JA, Migliaccio AR, Papayannopoulou T.

Blood. 2015 Jul 2;126(1):89-93. doi: 10.1182/blood-2015-04-638528. Epub 2015 May 27.

12.

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.

Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH.

Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11869-74. doi: 10.1073/pnas.0804799105. Epub 2008 Jul 30.

13.

Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.

Pereira C, Relvas L, Bento C, Abade A, Ribeiro ML, Manco L.

Blood Cells Mol Dis. 2015 Apr;54(4):315-20. doi: 10.1016/j.bcmd.2015.02.001. Epub 2015 Feb 21.

PMID:
25842369
14.

Regulation of the fetal hemoglobin silencing factor BCL11A.

Basak A, Sankaran VG.

Ann N Y Acad Sci. 2016 Mar;1368(1):25-30. doi: 10.1111/nyas.13024. Epub 2016 Mar 9. Review.

15.

rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients.

Chaouch L, Moumni I, Ouragini H, Darragi I, Kalai M, Chaouachi D, Boudrigua I, Hafsia R, Abbes S.

Hematology. 2016 Aug;21(7):425-9. doi: 10.1080/10245332.2015.1107275. Epub 2016 Jan 22.

PMID:
27077760
16.

Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.

Bae HT, Baldwin CT, Sebastiani P, Telen MJ, Ashley-Koch A, Garrett M, Hooper WC, Bean CJ, Debaun MR, Arking DE, Bhatnagar P, Casella JF, Keefer JR, Barron-Casella E, Gordeuk V, Kato GJ, Minniti C, Taylor J, Campbell A, Luchtman-Jones L, Hoppe C, Gladwin MT, Zhang Y, Steinberg MH.

Blood. 2012 Aug 30;120(9):1961-2. doi: 10.1182/blood-2012-06-432849. No abstract available.

17.

Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon.

Wonkam A, Ngo Bitoungui VJ, Vorster AA, Ramesar R, Cooper RS, Tayo B, Lettre G, Ngogang J.

PLoS One. 2014 Mar 25;9(3):e92506. doi: 10.1371/journal.pone.0092506. eCollection 2014.

18.

Amelioration of Sardinian beta0 thalassemia by genetic modifiers.

Galanello R, Sanna S, Perseu L, Sollaino MC, Satta S, Lai ME, Barella S, Uda M, Usala G, Abecasis GR, Cao A.

Blood. 2009 Oct 29;114(18):3935-7. doi: 10.1182/blood-2009-04-217901. Epub 2009 Aug 20.

19.

Transcriptional silencing of fetal hemoglobin by BCL11A.

Sankaran VG, Xu J, Orkin SH.

Ann N Y Acad Sci. 2010 Aug;1202:64-8. doi: 10.1111/j.1749-6632.2010.05574.x.

PMID:
20712774
20.

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer.

Mtatiro SN, Mgaya J, Singh T, Mariki H, Rooks H, Soka D, Mmbando B, Thein SL, Barrett JC, Makani J, Cox SE, Menzel S.

BMC Med Genet. 2015 Feb 10;16:4. doi: 10.1186/s12881-015-0148-3.

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