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Items: 1 to 20 of 97

1.

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.

Stadhouders R, Aktuna S, Thongjuea S, Aghajanirefah A, Pourfarzad F, van Ijcken W, Lenhard B, Rooks H, Best S, Menzel S, Grosveld F, Thein SL, Soler E.

J Clin Invest. 2014 Apr;124(4):1699-710. doi: 10.1172/JCI71520.

2.

Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.

Fanis P, Kousiappa I, Phylactides M, Kleanthous M.

BMC Genomics. 2014 Feb 6;15:108. doi: 10.1186/1471-2164-15-108.

3.

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.

4.

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.

5.

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells.

Wahlberg K, Jiang J, Rooks H, Jawaid K, Matsuda F, Yamaguchi M, Lathrop M, Thein SL, Best S.

Blood. 2009 Aug 6;114(6):1254-62. doi: 10.1182/blood-2009-03-210146.

6.

Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.

Ngo D, Bae H, Steinberg MH, Sebastiani P, Solovieff N, Baldwin CT, Melista E, Safaya S, Farrer LA, Al-Suliman AM, Albuali WH, Al Bagshi MH, Naserullah Z, Akinsheye I, Gallagher P, Luo HY, Chui DH, Farrell JJ, Al-Ali AK, Alsultan A.

Blood Cells Mol Dis. 2013 Jun;51(1):22-6. doi: 10.1016/j.bcmd.2012.12.005.

7.

Polymorphism at BCL11A compared to HBS1L-MYB loci explains less of the variance in HbF in patients with sickle cell disease in Cameroon.

Bitoungui VJ, Ngogang J, Wonkam A.

Blood Cells Mol Dis. 2015 Mar;54(3):268-9. doi: 10.1016/j.bcmd.2014.11.010. No abstract available.

PMID:
25488618
8.

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

Farrell JJ, Sherva RM, Chen ZY, Luo HY, Chu BF, Ha SY, Li CK, Lee AC, Li RC, Li CK, Yuen HL, So JC, Ma ES, Chan LC, Chan V, Sebastiani P, Farrer LA, Baldwin CT, Steinberg MH, Chui DH.

Blood. 2011 May 5;117(18):4935-45. doi: 10.1182/blood-2010-11-317081.

9.

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.

PMID:
25842369
10.

The genetics of hemoglobin A2 regulation in sickle cell anemia.

Griffin PJ, Sebastiani P, Edward H, Baldwin CT, Gladwin MT, Gordeuk VR, Chui DH, Steinberg MH.

Am J Hematol. 2014 Nov;89(11):1019-23. doi: 10.1002/ajh.23811.

11.

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.

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.

13.

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.

PMID:
23777413
14.

The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia.

So CC, Song YQ, Tsang ST, Tang LF, Chan AY, Ma ES, Chan LC.

J Med Genet. 2008 Nov;45(11):745-51. doi: 10.1136/jmg.2008.060335.

PMID:
18697826
15.

Influences of genetic variation on fetal hemoglobin.

He Y, Lin W, Luo J.

Pediatr Hematol Oncol. 2011 Nov;28(8):708-17. doi: 10.3109/08880018.2011.616573.

PMID:
22023465
16.

The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.

Nguyen TK, Joly P, Bardel C, Moulsma M, Bonello-Palot N, Francina A.

Blood Cells Mol Dis. 2010 Aug 15;45(2):124-7. doi: 10.1016/j.bcmd.2010.04.002.

PMID:
20472475
17.

Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model.

Suzuki M, Yamazaki H, Mukai HY, Motohashi H, Shi L, Tanabe O, Engel JD, Yamamoto M.

Mol Cell Biol. 2013 Apr;33(8):1687-95. doi: 10.1128/MCB.01617-12.

18.

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.

19.

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.

Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White HE, Waghorn K, Lin F, Chase A, Baxter EJ, Maclean C, Nangalia J, Chen E, Evans P, Short M, Jack A, Wallis L, Oscier D, Duncombe AS, Schuh A, Mead AJ, Griffiths M, Ewing J, Gale RE, Schnittger S, Haferlach T, Stegelmann F, Döhner K, Grallert H, Strauch K, Tanaka T, Bandinelli S, Giannopoulos A, Pieri L, Mannarelli C, Gisslinger H, Barosi G, Cazzola M, Reiter A, Harrison C, Campbell P, Green AR, Vannucchi A, Cross NC.

Nat Commun. 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691.

20.

DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil.

Cardoso GL, Diniz IG, Silva AN, Cunha DA, Silva Junior JS, Uchôa CT, Santos SE, Trindade SM, Cardoso Mdo S, Guerreiro JF.

Blood Cells Mol Dis. 2014 Dec;53(4):176-9. doi: 10.1016/j.bcmd.2014.07.006.

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