| 1 | HBB, STATH, TGM4
|
| Development of mRNA-based body fluid identification using reverse transcription loop-mediated isothermal amplification.
|
| Satoh T, Kouroki S, Ogawa K, Tanaka Y, Matsumura K, Iwase S.
|
| Anal Bioanal Chem 410(18):4371-4378. doi: 10.1007/s00216-018-1088-5. Epub 2018 Apr 25.
2018
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| 2 | BTHAL, HBB
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| A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.
|
| Chen D, Zuo Y, Zhang X, Ye Y, Bao X, Huang H, Tepakhan W, Wang L, Ju J, Chen G, Zheng M, Liu D, Huang S, Zong L, Li C, Chen Y, Zheng C, Shi L, Zhao Q, Wu Q, Fucharoen S, Zhao C, Xu X.
|
| Am J Hum Genet 101(1):130-138. doi: 10.1016/j.ajhg.2017.05.012. Epub 2017 Jun 29.
2017
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| 3 | BCL11A, HBB, KLF1
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| Krüppel-Like Transcription Factor KLF1 Is Required for Optimal γ- and β-Globin Expression in Human Fetal Erythroblasts.
|
| Vinjamur DS, Alhashem YN, Mohamad SF, Amin P, Williams DC Jr, Lloyd JA.
|
| PLoS One 11(2):e0146802. doi: 10.1371/journal.pone.0146802. eCollection 2016. 2016
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| 4 | BTHAL, HBB
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| The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.
|
| Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L.
|
| Eur J Med Genet 59(8):355-62. doi: 10.1016/j.ejmg.2016.05.016. Epub 2016 Jun 1.
2016
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| 5 | BCL11A, HBB
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| Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin.
|
| Bauer DE, Orkin SH.
|
| Curr Opin Genet Dev 33:62-70. doi: 10.1016/j.gde.2015.08.001. Epub 2015 Sep 14. Review.
2015
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| 6 | BTHAL, HBB
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| β-globin genes: mutation hot-spots in the global thalassemia belt.
|
| Kumar R, Sagar C, Sharma D, Kishor P.
|
| Hemoglobin 39(1):1-8. doi: 10.3109/03630269.2014.985831. Epub 2014 Dec 19. Review.
2015
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| 7 | GATA1, HBB, HIRA, KLF1
|
| Transcription factor EKLF (KLF1) recruitment of the histone chaperone HIRA is essential for β-globin gene expression.
|
| Soni S, Pchelintsev N, Adams PD, Bieker JJ.
|
| Proc Natl Acad Sci U S A 111(37):13337-42. doi: 10.1073/pnas.1405422111. Epub 2014 Sep 2.
2014
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| 8 | BTHAL, HBB
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| Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.
|
| Bilgen T, Clark OA, Ozturk Z, Akif Yesilipek M, Keser I.
|
| Int J Lab Hematol 35(1):26-30. doi: 10.1111/j.1751-553X.2012.01456.x. Epub 2012 Aug 2.
2013
|
| 9 | HBB, SICA
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| Molecular analysis of the β-globin gene cluster haplotypes in a Sudanese population with sickle cell anaemia.
|
| Elderdery AY, Mills J, Mohamed BA, Cooper AJ, Mohammed AO, Eltieb N, Old J.
|
| Int J Lab Hematol 34(3):262-6. doi: 10.1111/j.1751-553X.2011.01388.x. Epub 2012 Jan 20.
2012
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| 10 | HBB
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| In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene.
|
| Alanazi M, Abduljaleel Z, Khan W, Warsy AS, Elrobh M, Khan Z, Al Amri A, Bazzi MD.
|
| PLoS One 6(10):e25876. doi: 10.1371/journal.pone.0025876. Epub 2011 Oct 20.
2011
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| 11 | HBB
|
| A transient definitive erythroid lineage with unique regulation of the β-globin locus in the mammalian embryo.
|
| McGrath KE, Frame JM, Fromm GJ, Koniski AD, Kingsley PD, Little J, Bulger M, Palis J.
|
| Blood 117(17):4600-8. doi: 10.1182/blood-2010-12-325357. Epub 2011 Mar 4.
2011
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| 12 | HBB, HBG1, HBG2
|
| Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.
|
| Miccio A, Blobel GA.
|
| Mol Cell Biol 30(14):3460-70. Epub 2010 May 3. 2010
|
| 13 | HBB, HNRNPH1, PTBP1, PTBP2
|
| A physical and functional link between splicing factors promotes pre-mRNA 3' end processing.
|
| Millevoi S, Decorsičre A, Loulergue C, Iacovoni J, Bernat S, Antoniou M, Vagner S.
|
| Nucleic Acids Res 37(14):4672-83. Epub 2009 Jun 8. 2009
|
| 14 | HBB, HBD, HBE1, HBG1, HBG2, IKZF1
|
| A mechanism for Ikaros regulation of human globin gene switching.
|
| Keys JR, Tallack MR, Zhan Y, Papathanasiou P, Goodnow CC, Gaensler KM, Crossley M, Dekker J, Perkins AC.
|
| Br J Haematol 141(3):398-406. Epub 2008 Mar 3.PMID: 18318763 2008
|
| 15 | BTHAL, HBB
|
| Molecular mechanism of beta-thalassaemia caused by 22-bp duplication.
|
| Svasti S, Boonchoy C, Vanichsetakul P, Winichagoon P, Fucharoen S.
|
| Ann Hematol 87(8):633-7. Epub 2008 Apr 5.PMID: 18392622 2008
|
| 16 | BTHAL, HBB
|
| Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family.
|
| Yi P, Yu F, Huang S, Zhong C, Li Q, Yang Y, Zhang W, Xiao C, Xu X.
|
| Blood Cells Mol Dis 41(1):56-9. Epub 2008 Apr 1.PMID: 18381244 2008
|
| 17 | HBB, SICA, BMP6, SELP
|
| Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia.
|
| Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH.
|
| Nat Genet 37(4):435-40. Epub 2005 Mar 20. 2005
|
| 18 | HBB
|
| The binding of the ubiquitous transcription factor Sp1 at the locus control region represses the expression of beta-like globin genes.
|
| Feng D, Kan YW.
|
| Proc Natl Acad Sci U S A 102(28):9896-900. Epub 2005 Jul 5. 2005
|
| 19 | CALM1, CDK5R1, CFHR1, FGF13, GABRB3, HBB, MAP1B, MAP2, MAP2K4, RAB6A, RAP2A, SCN2B, SORT1, SYN2, VAMP1, YWHAZ, ZBTB18
|
| Gene regulation and DNA damage in the ageing human brain.
|
| Lu T, Pan Y, Kao SY, Li C, Kohane I, Chan J, Yankner BA.
|
| Nature 429(6994):883-91. Epub 2004 Jun 09. 2004
|
| 20 | HBB
|
| Autocatalytic RNA cleavage in the human beta-globin pre-mRNA promotes transcription termination.
|
| Teixeira A, Tahiri-Alaoui A, West S, Thomas B, Ramadass A, Martianov I, Dye M, James W, Proudfoot NJ, Akoulitchev A.
|
| Nature 432(7016):526-30. 2004
|
| 21 | HBB, SICA
|
| Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study.
|
| Ashley-Koch A, Murphy CC, Khoury MJ, Boyle CA.
|
| Genet Med 3(3):181-6.
2001
|
| 22 | HBB, SICA
|
| Five years of experience with hydroxyurea in children and young adults with sickle cell disease.
|
| Ferster A, Tahriri P, Vermylen C, Sturbois G, Corazza F, Fondu P, Devalck C, Dresse MF, Feremans W, Hunninck K, Toppet M, Philippet P, Van Geet C, Sariban E.
|
| Blood 97(11):3628-32.
2001
|
| 23 | HBB, SICA
|
| Genetic correction of sickle cell disease: insights using transgenic mouse models.
|
| Blouin MJ, Beauchemin H, Wright A, De Paepe M, Sorette M, Bleau AM, Nakamoto B, Ou CN, Stamatoyannopoulos G, Trudel M.
|
| Nat Med 6(2):177-82.
2000
|
| 24 | HBB
|
| Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.
|
| Kazazian HH, et al.
|
| Blood 79 : 3014-3018. 1992
|
| 25 | D11S439, HBB
|
| Dinucleotide repeat polymorphisms at the D11S439 and HBB loci.
|
| Hauge XY, et al.
|
| Hum Mol Genet 1 : 548. 1992
|
| 26 | HBB
|
| Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutation by multiplex allele-specific enzymatic amplification.
|
| Bienvenu T, et al.
|
| Hum Biol 64 : 107-113. 1992
|
| 27 | HBB
|
| Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta-thalassemia.
|
| Trent RJ, et al.
|
| Pathology 24 : 15-18. 1992
|
| 28 | HBB
|
| Diagnosis of sickle cell disease in chronically transfused patients.
|
| Oliveri DR, et al.
|
| Am J Pediatr Hematol Oncol 14 : 77-81. 1992
|
| 29 | HBB
|
| Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
|
| Cai SP, et al.
|
| Blood 79 : 1342-1346. 1992
|
| 30 | HBB
|
| A family with haemolytic anaemia and three beta-globins : the deletion in haemoglobin Atlanta-Coventry (beta75 Leu-Pro, 141 Leu deleted) is not present a the nucleotide level.
|
| George PM, et al.
|
| Br J Haematol 81 : 93-98. 1992
|
| 31 | HBB
|
| Beta-S haplotypes in various world populations.
|
| …ner C, et al.
|
| Hum Genet 89 : 99-104. 1992
|
| 32 | HBB
|
| Molecular characterization of beta-thalassemia in the Sardinian population.
|
| Rosatelli MC, et al.
|
| Am J Hum Genet 50 : 422-426. 1992
|
| 33 | HBB
|
| Identification of the five rare mutations including a novel frameshift mutation causing betaˇ-thalassemia in Thai patients with betaˇ-thalassemia/hemoglobin E disease.
|
| Winichagoon P, et al.
|
| Biochim Biophys Acta 1139 : 280-286. 1992
|
| 34 | HBB
|
| Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis.
|
| Losekoot M, et al.
|
| J Med Genet 29 : 574-577. 1992
|
| 35 | HBB
|
| Hb lepore in Campania : a study using a rapid molecular approach letter.
|
| Iolascon A, et al.
|
| Haematologica 77 : 291-292. 1992
|
| 36 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Microdissection of chromosome band 11p15.5 : characterization of probes mapping distal to the HBBC locus.
|
| Newsham I, et al.
|
| Genes Chromosomes Cancer 3 : 108-116. 1991
|
| 37 | HBB
|
| Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland.
|
| Beris P, et al.
|
| Eur J Haematol 46 : 163-171. 1991
|
| 38 | HBB
|
| Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea : analysis of the 5' flanking and intragenic sequences of beta-S and beta-C genes.
|
| Trabuchet G, et al.
|
| Hum Biol 63 : 241-252. 1991
|
| 39 | HBB
|
| Genetic screening of newborns for sickle cell disease. Correlation of DNA analysis with hemoglobin electrophoresis.
|
| Skogerboe KJ, et al.
|
| Clin Chem 37 : 454-458. 1991
|
| 40 | HBB
|
| Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch.
|
| Dianzani I, et al.
|
| Genomics 11 : 48-53. 1991
|
| 41 | HBB
|
| Polymerase chain reaction (PCR) mutagenesis enabling rapid non-radioactive detection of common beta-thalassaemia mutations in Mediterraneans.
|
| Lindeman R, et al.
|
| Br J Haematol 78 : 100-104. 1991
|
| 42 | HBB
|
| High hemoglobin A2 betaˇ-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.
|
| Waye JS, et al.
|
| Blood 77 : 1100-1103. 1991
|
| 43 | HBB
|
| Molecular characterization and nonradioactive detection of beta-thalassemia in Malaysia.
|
| Fucharoen S, et al.
|
| Acta Haematol 84 : 82-88. 1990
|
| 44 | HBB
|
| Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction.
|
| Fischel-Ghodsian N, et al.
|
| Am J Hum Genet 47 : 1023-1024. 1990
|
| 45 | HBB
|
| The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassemia in the Italian population.
|
| Ristaldi MS, et al.
|
| Br J Haematol 74 : 480-486. 1990
|
| 46 | HBB
|
| A 6-bp deletion 5' to the G gamma globin gene in beta S chromosomes bearing the Bantu haplotype.
|
| Bouhassira EE, et al.
|
| Am J Hum Genet 47 : 161-163. 1990
|
| 47 | HB-NA@, HBB
|
| Nucleotide sequence of the Belgian Ggamma+(Agamma-delta-beta)ˇ-thalassemia deletion breakpoint suggests a common mechanism for a number of such recombination events.
|
| Fodde R, et al.
|
| Genomics 8 : 732-735. 1990
|
| 48 | HBB
|
| Another example of Japanese beta-thalassemia [-31 CAP (A+G)].
|
| Yamashiro Y, et al.
|
| Hemoglobin 13 : 761-767. 1989
|
| 49 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes.
|
| Sutton M, et al.
|
| Am J Hematol 32 : 66-69. 1989
|
| 50 | HBB
|
| Prenatal diagnosis of beta-thalassemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.
|
| Ristaldi MS, et al.
|
| Prenat Diagn 9 : 629-638. 1989
|
| 51 | HBB
|
| Molecular basis of beta-thalassemia/Hbe disease in Thailand.
|
| Petmitr S, et al.
|
| Biochem Biophys Res Commun 162 : 846-851. 1989
|
| 52 | HBB
|
| Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.
|
| Wu GY, et al.
|
| Proc Natl Acad Sci U S A 86 : 2757-2760. 1989
|
| 53 | HBB
|
| Studies of beta-thalassemia mutations in families living in three provinces in southern China.
|
| Liu JZ, et al.
|
| Hemoglobin 13 : 585-595. 1989
|
| 54 | HBB
|
| Molecular basis of beta-thalassemia in Thailand : analysis of beta-thalassemia mutations using the polymerase chain reaction.
|
| Fucharoen S, et al.
|
| Hum Genet 84 : 41-46. 1989
|
| 55 | HBB
|
| Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes.
|
| Cai SP, et al.
|
| Blood 73 : 372-374. 1989
|
| 56 | HBB
|
| Characterization of three types of betaˇ-thalassemia resulting from a partial deletion of the beta-globin gene.
|
| Gonzalez-Redondo JM, et al.
|
| Hemoglobin 13 : 377-392. 1989
|
| 57 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur.
|
| Cai SP, et al.
|
| Blood 71 : 1357-1360. 1988
|
| 58 | HBB
|
| Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes.
|
| Saiki RK, et al.
|
| N Engl J Med 319 : 537-541. 1988
|
| 59 | HBB
|
| Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA.
|
| Amselem S, et al.
|
| Am J Hum Genet 43 : 95-100. 1988
|
| 60 | HPFH, HBB
|
| Identification of base substitutions in the promoter regions of the Agamma- and Ggamma-globin genes in Agamma-(or Ggamma-)beta+-HPFH heterozygotes using the DNA-amplification-synthetic oligonucleotide procedure.
|
| Yang KG, et al.
|
| Blood 71 : 1414-1417. 1988
|
| 61 | HBB
|
| The detection of beta-globin gene mutations in beta-thalassemia using oligonucleotide probes and amplified DNA.
|
| Diaz-Chico JC, et al.
|
| Biochim Biophys Acta 949 : 43-48. 1988
|
| 62 | HBB
|
| Amplification and analysis of DNA sequences in single human sperm and diploid cells.
|
| Li H, et al.
|
| Nature 335 : 414-417. 1988
|
| 63 | HB-NA@, HBB
|
| Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.
|
| Wong C, et al.
|
| Nature 330 : 384-386. 1987
|
| 64 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2, WAGR
|
| Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions.
|
| Mannens M, et al.
|
| Hum Genet 75 : 180-187. 1987
|
| 65 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Linkage relationships among four 11p markers in the Utah dataset.
|
| Bale SJ, et al.
|
| Genet Epidemiol 1(S) : 117-121. 1986
|
| 66 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Multilocus linkage analysis of markers located on short arm of chromosome 11.
|
| Bona•ti-PelliŽ C, et al.
|
| Genet Epidemiol 1(S) : 129-134. 1986
|
| 67 | HBB, HLA-DQA1, HLA-DQA2
|
| Analysis of enzymatically amplified beta-globin and HLA-DQalpha DNA with allele-specific oligonucleotide probes.
|
| Saiki RK, et al.
|
| Nature 324 : 163-166. 1986
|
| 68 | HB-A@, HBA1, HBA2, HB-NA@, HBB
|
| [Molecular bases of thalassemia]
|
| Labie D, Troungos C, Wajcman H.
|
| Ann Med Interne 136(4):323-45. 1985
|
| 69 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Hematologically and genetically distinct forms of sickle cell anemia in Africa.
|
| Nagel RL, et al.
|
| N Engl J Med 312 : 880-884. 1985
|
| 70 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Localization of the beta-globin gene to 11p15 by in situ hybridization: utilization of chromosome 11 rearrangements.
|
| Magenis RE, et al.
|
| Hum Genet 69 : 300-303. 1985
|
| 71 | HBB
|
| Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.
|
| Saiki RK, et al.
|
| Science 230 : 1350-1354. 1985
|
| 72 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2, HRAS, INS, MODY10, PTH
|
| Germ-line chromosomal localization of genes in chromosome 11p linkage: parathyroid hormone, beta-globin, c-H-ras-1, and insulin.
|
| Chaganti RSK, et al.
|
| Somat Cell Mol Genet 11 : 197-202. 1985
|
| 73 | HB-NA@,HBB,HBBP1,HBD,HBE1,HBG1,HBG2
|
| The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
|
| Orkin SH, et al.
|
| Annu Rev Genet 18 : 131-171. 1984
|
| 74 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Localization of the beta-globin gene by chromosomal in situ hybridization.
|
| Morton CC, et al.
|
| Am J Hum Genet 36 : 576-585. 1984
|
| 75 | HBB
|
| Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.
|
| Spence SE, et al.
|
| Nucleic Acids Res 10 : 1283-1294. 1982
|
| 76 | HB-A@, HBA1, HBA2, HB-NA@, HBB
|
| The thalassemia syndromes.
|
| Weatherall DJ, et al.
|
| Blackwell Scientific Publications. Oxford. 3rd edition 1981
|
| 77 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Regional mapping of the beta-globin gene (HBB) to 11p.
|
| Haigh LS, et al.
|
| Cytogenet Cell Genet 25 : 162-163. 1979
|
| 78 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Activation of human beta-globin gene and its assignment to chromosome 11.
|
| Kucherlapati R, et al.
|
| Cytogenet Cell Genet 25 : 176. 1979
|
| 79 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Chromosomal localization of the human beta globin gene on human chromosome 11 by somatic cell hybrids.
|
| Deisseroth A, et al.
|
| Proc Natl Acad Sci U S A 75 : 1456-1460. 1978
|
| 80 | HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2
|
| Haemoglobin Kšln (beta-98 valine-methionine) : an unstable protein causing inclusion-body anaemia.
|
| Carrell RW, et al.
|
| Nature 210 : 915-916. 1966
|