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Quoted phrase not found in phrase index: "Fetal hemoglobin quantitative trait locus 6"
Page 1
Abundant pleiotropy in human complex diseases and traits.
Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, Rudan I, McKeigue P, Wilson JF, Campbell H. Sivakumaran S, et al. Am J Hum Genet. 2011 Nov 11;89(5):607-18. doi: 10.1016/j.ajhg.2011.10.004. Am J Hum Genet. 2011. PMID: 22077970 Free PMC article. Review.
We find abundant evidence of pleiotropy; 233 (16.9%) genes and 77 (4.6%) SNPs show pleiotropic effects. SNP pleiotropic status was associated with gene location (p = 0.024; pleiotropic SNPs more often exonic [14.5% versus 4.9% for nonpleiotropic, trait-associated SN …
We find abundant evidence of pleiotropy; 233 (16.9%) genes and 77 (4.6%) SNPs show pleiotropic effects. SNP pleiotropic status was as …
Diagnosis and prevention of thalassemia.
Ip HW, So CC. Ip HW, et al. Crit Rev Clin Lab Sci. 2013 Nov;50(6):125-41. doi: 10.3109/10408363.2013.847236. Crit Rev Clin Lab Sci. 2013. PMID: 24295057 Review.
It also addresses the impact of the rapidly increasing knowledge in disease severity modification by hemoglobin F (Hb F)....
It also addresses the impact of the rapidly increasing knowledge in disease severity modification by hemoglobin F (Hb F)....
Global genetic architecture of an erythroid quantitative trait locus, HMIP-2.
Menzel S, Rooks H, Zelenika D, Mtatiro SN, Gnanakulasekaran A, Drasar E, Cox S, Liu L, Masood M, Silver N, Garner C, Vasavda N, Howard J, Makani J, Adekile A, Pace B, Spector T, Farrall M, Lathrop M, Thein SL. Menzel S, et al. Ann Hum Genet. 2014 Nov;78(6):434-51. doi: 10.1111/ahg.12077. Epub 2014 Jul 29. Ann Hum Genet. 2014. PMID: 25069958 Free PMC article.
HMIP-2 is a human quantitative trait locus affecting peripheral numbers, size and hemoglobin composition of red blood cells, with a marked effect on the persistence of the fetal form of hemoglobin, HbF, in adults. The locus consist …
HMIP-2 is a human quantitative trait locus affecting peripheral numbers, size and hemoglobin composition of red …
Multi-Locus Models to Address Hb F Variability in Portuguese beta-Thalassemia Carriers.
Manco L, Bento C, Relvas L, Cunha E, Pereira J, Moreira V, Alvarez M, Maia T, Ribeiro ML. Manco L, et al. Hemoglobin. 2020 Mar;44(2):113-117. doi: 10.1080/03630269.2020.1753766. Epub 2020 Apr 22. Hemoglobin. 2020. PMID: 32319326
Hb F production is under the influence of major quantitative trait loci (QTL). The present study aims: i) to replicate the association with Hb F for representative genetic variants in the three major Hb F QTLs in a Portuguese sample of beta-thalassemia (beta- …
Hb F production is under the influence of major quantitative trait loci (QTL). The present study aims: i) to replicate …
The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang beta-thalassemia intermedia patients.
Lai Y, Zhou L, Yi S, Chen Y, Tang Y, Yi S, Yang Z, Wei H, Zheng C, He S. Lai Y, et al. Blood Cells Mol Dis. 2017 Mar;63:52-57. doi: 10.1016/j.bcmd.2017.01.011. Epub 2017 Jan 25. Blood Cells Mol Dis. 2017. PMID: 28160732
The cumulative effects of risk genotypes of these loci for patients carrying any combination of 1, 2 or 3 risk genotype had a gradually increased risk of high HbF level phenotype compared to those without the risk genotypes (OR=1.50-9.06, P=0.0008); Gene-gene interaction o …
The cumulative effects of risk genotypes of these loci for patients carrying any combination of 1, 2 or 3 risk genotype had a gradual …
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. Farrell JJ, et al. Blood. 2011 May 5;117(18):4935-45. doi: 10.1182/blood-2010-11-317081. Epub 2011 Mar 8. Blood. 2011. PMID: 21385855 Free PMC article.
Fetal hemoglobin (HbF) is regulated as a multigenic trait. By genome-wide association study, we confirmed that HBS1L-MYB intergenic polymorphisms (HMIP) and BCL11A polymorphisms are highly associated with HbF in Chinese beta-thalassemia heterozygotes. In this …
Fetal hemoglobin (HbF) is regulated as a multigenic trait. By genome-wide association study, we confirmed that HBS1L-MY …
Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.
Creary LE, Ulug P, Menzel S, McKenzie CA, Hanchard NA, Taylor V, Farrall M, Forrester TE, Thein SL. Creary LE, et al. PLoS One. 2009;4(1):e4218. doi: 10.1371/journal.pone.0004218. Epub 2009 Jan 16. PLoS One. 2009. PMID: 19148297 Free PMC article.
Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait locus on chromosome 6q23 was significantly associated with HbF and F cell levels in individuals of African descent. ...
Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait …