1 | HBG1, ZBTB7A
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| Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin.
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| Masuda T, Wang X, Maeda M, Canver MC, Sher F, Funnell AP, Fisher C, Suciu M, Martyn GE, Norton LJ, Zhu C, Kurita R, Nakamura Y, Xu J, Higgs DR, Crossley M, Bauer DE, Orkin SH, Kharchenko PV, Maeda T.
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| Science 351(6270):285-9. doi: 10.1126/science.aad3312.
2016
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2 | BCL11A, HBG1, HBG2, KLF1
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| Erythropoiesis and globin switching in compound Klf1::Bcl11a mutant mice.
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| Esteghamat F, Gillemans N, Bilic I, van den Akker E, Cantù I, van Gent T, Klingmüller U, van Lom K, von Lindern M, Grosveld F, Bryn van Dijk T, Busslinger M, Philipsen S.
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| Blood 121(13):2553-62. doi: 10.1182/blood-2012-06-434530. Epub 2013 Jan 29.
2013
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3 | HBE1, HBG1, HBG2, KLF1, KLF2
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| Transcription factors KLF1 and KLF2 positively regulate embryonic and fetal beta-globin genes through direct promoter binding.
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| Alhashem YN, Vinjamur DS, Basu M, Klingmüller U, Gaensler KM, Lloyd JA.
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| J Biol Chem 286(28):24819-27. Epub 2011 May 24. 2011
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4 | HBG1, HBG2
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| Dynamics and processes of copy number instability in human gamma-globin genes.
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| Neumann R, Lawson VE, Jeffreys AJ.
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| Proc Natl Acad Sci U S A 107(18):8304-9. Epub 2010 Apr 19.PMID: 20404158 2010
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5 | HBB, HBG1, HBG2
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| Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.
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| Miccio A, Blobel GA.
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| Mol Cell Biol 30(14):3460-70. Epub 2010 May 3. 2010
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6 | HBG1, HBG2
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| Identification of four novel developmentally regulated gamma hemoglobin mRNA isoforms.
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| Alvarez M, Ballantyne J.
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| Exp Hematol 37(2):285-93. Epub 2008 Dec 6.PMID: 19059701 2009
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7 | HBB, HBD, HBE1, HBG1, HBG2, IKZF1
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| A mechanism for Ikaros regulation of human globin gene switching.
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| Keys JR, Tallack MR, Zhan Y, Papathanasiou P, Goodnow CC, Gaensler KM, Crossley M, Dekker J, Perkins AC.
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| Br J Haematol 141(3):398-406. Epub 2008 Mar 3.PMID: 18318763 2008
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8 | HPFH, HBG1, PRPF19, GTF2F1
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| Purification and identification of proteins that bind to the hereditary persistence of fetal hemoglobin -198 mutation in the gamma-globin gene promoter.
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| Olave IA, Doneanu C, Fang X, Stamatoyannopoulos G, Li Q.
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| J Biol Chem 282(2):853-62. Epub 2006 Nov 17. 2007
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9 | HBG1, HBG2
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| Characterization of the -16C>G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human gamma-globin genes.
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| de Vooght KM, van Wijk R, Ploos van Amstel HK, van Solinge WW.
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| Blood Cells Mol Dis 39(1):70-4. Epub 2007 Apr 25.PMID: 17462922 2007
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10 | HBG1
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| The minimal promoter plays a major role in silencing of the galago gamma-globin gene in adult erythropoiesis.
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| Li Q, Fang X, Han H, Stamatoyannopoulos G.
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| Proc Natl Acad Sci U S A 101(21):8096-101. Epub 2004 May 17. 2004
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11 | HBG1, HPFH
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| The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Agamma-158C-T] results from two independent gene conversion events.
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| Patrinos GP, et al.
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| Hum Genet 102 : 629-634. 1998
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12 | HBG1
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| A new base substitution in the 5' regulatory region of the human Agamma globin gene is linked with the betaS gene.
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| Patrinos GP, et al.
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| Hum Genet 97 : 357-358. 1996
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13 | HB-NA@, KRT123P, HBD, HBG2, HBG1
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| Alpha-alpha-alpha-alpha-anti-3.7 typeII : a new alpha-globin gene rearrangement suggesting that the alpha-globin gene duplication could be caused by intrachromosomal recombination.
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| De Angioletti M, et al.
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| Hum Genet 89 : 37-41. 1992
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14 | HPFH, HBG1
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| Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.
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| Gottardi E, et al.
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| Br J Haematol 80 : 533-538. 1992
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15 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Microdissection of chromosome band 11p15.5 : characterization of probes mapping distal to the HBBC locus.
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| Newsham I, et al.
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| Genes Chromosomes Cancer 3 : 108-116. 1991
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16 | HBG1, HBG2
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| Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions.
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| Economou EP, et al.
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| Blood 77 : 174-177. 1991
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17 | HPFH, HBG1
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| The Georgia type of nondeletial hereditary persistence of fetal hemoglobin has a C-T mutation at nucleotide -114 of the Agamma-globin gene.
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| …ner R, et al.
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| Blood 77 : 1124-1128. 1991
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18 | HPFH, HBG1
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| Molecular diagnosis of Agamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis.
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| Gottardi E, et al.
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| Haematologica 75 : 17-20. 1990
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19 | HBG1
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| The T-C substitution at -198 of the A-gamma-globin gene associated with the British form of HPFH generates overlapping recognition sites for two DNA-binding proteins.
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| Fischer KD, et al.
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| Nucleic Acids Res 18 : 5685-5693. 1990
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20 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes.
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| Sutton M, et al.
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| Am J Hematol 32 : 66-69. 1989
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21 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur.
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| Cai SP, et al.
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| Blood 71 : 1357-1360. 1988
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22 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2, WAGR
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| Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions.
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| Mannens M, et al.
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| Hum Genet 75 : 180-187. 1987
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23 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Linkage relationships among four 11p markers in the Utah dataset.
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| Bale SJ, et al.
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| Genet Epidemiol 1(S) : 117-121. 1986
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24 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Multilocus linkage analysis of markers located on short arm of chromosome 11.
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| Bona•ti-PelliŽ C, et al.
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| Genet Epidemiol 1(S) : 129-134. 1986
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25 | HB-NA@, KRT123P, HBBP1, HBD, HBG1, HBG2
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| Estimation of linkage disequilibrium from conditional haplotype data : application to beta-globin gene cluster in American blacks.
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| Chakraborty R.
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| Genet Epidemiol 3 : 323-333. 1986
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26 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Hematologically and genetically distinct forms of sickle cell anemia in Africa.
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| Nagel RL, et al.
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| N Engl J Med 312 : 880-884. 1985
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27 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Localization of the beta-globin gene to 11p15 by in situ hybridization: utilization of chromosome 11 rearrangements.
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| Magenis RE, et al.
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| Hum Genet 69 : 300-303. 1985
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28 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2, HRAS, INS, MODY10, PTH
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| Germ-line chromosomal localization of genes in chromosome 11p linkage: parathyroid hormone, beta-globin, c-H-ras-1, and insulin.
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| Chaganti RSK, et al.
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| Somat Cell Mol Genet 11 : 197-202. 1985
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29 | HB-NA@,HBB,HBBP1,HBD,HBE1,HBG1,HBG2
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| The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
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| Orkin SH, et al.
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| Annu Rev Genet 18 : 131-171. 1984
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30 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Localization of the beta-globin gene by chromosomal in situ hybridization.
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| Morton CC, et al.
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| Am J Hum Genet 36 : 576-585. 1984
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31 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Regional mapping of the beta-globin gene (HBB) to 11p.
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| Haigh LS, et al.
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| Cytogenet Cell Genet 25 : 162-163. 1979
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32 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Activation of human beta-globin gene and its assignment to chromosome 11.
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| Kucherlapati R, et al.
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| Cytogenet Cell Genet 25 : 176. 1979
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33 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Chromosomal localization of the human beta globin gene on human chromosome 11 by somatic cell hybrids.
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| Deisseroth A, et al.
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| Proc Natl Acad Sci U S A 75 : 1456-1460. 1978
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34 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
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| Haemoglobin Kšln (beta-98 valine-methionine) : an unstable protein causing inclusion-body anaemia.
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| Carrell RW, et al.
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| Nature 210 : 915-916. 1966
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