Zobrazeno 1 - 10
of 47
pro vyhledávání: '"D. R. Higgs"'
Autor:
D. M. Jeziorska, E. A. J. Tunnacliffe, J. M. Brown, H. Ayyub, J. Sloane-Stanley, J. A. Sharpe, B. C. Lagerholm, C. Babbs, A. J. H. Smith, V. J. Buckle, D. R. Higgs
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Here the authors observe transcription dynamics in real-time throughout erythropoiesis by combining PP7 tagging of α-globin RNA transcripts and “on-microscope” cell staging. They show how the pattern of transcriptional bursting changes during di
Externí odkaz:
https://doaj.org/article/0c3b40eaebc94c59a4d6b6a4888b986e
Autor:
R. J. Gibbons, L. Brueton, V. J. Buckle, J. Burn, J. Clayton-Smith, B. C. C. Davison, R. J. M. Gardner, T. Homfray, L. Kearney, H. M. Kingston, R. Newbury-Ecob, M. E. P. Porteous, A. O. M. Wilkie, D. R. Higgs
Publikováno v:
American Journal of Medical Genetics. 55:288-299
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia. The demonstration of HbH inclusions in re
Autor:
Barry Eng, Stephen A. Liebhaber, Wozhan Tang, M. Albitar, Margie Patterson, John S. Waye, D. R. Higgs, Hong-yuan Luo, David H.K. Chui
Publikováno v:
Blood. 80:517-522
zeta-Globin chain expression in carriers of a number of deletional alpha-thalassemias is investigated by radioimmunoassay. In a few cases, zeta-globin mRNAs are also studied. zeta-Globin chains are detected in (--SEA/), (--MED/), and (--SPAN/) deleti
Publikováno v:
Molecular and Cellular Biology. 12:2135-2142
A major regulatory element required for expression of the human alpha-globin genes is located 40 kb upstream of the embryonic zeta-globin gene. To understand how this and other locus control region (LCR) elements contribute to high-level expression i
Publikováno v:
Molecular and Cellular Biology. 12:2135-2142
A major regulatory element required for expression of the human alpha-globin genes is located 40 kb upstream of the embryonic zeta-globin gene. To understand how this and other locus control region (LCR) elements contribute to high-level expression i
Publikováno v:
Molecular and Cellular Biology. 11:4679-4689
The major positive regulatory activity of the human alpha-globin gene complex has been localized to an element associated with a strong erythroid-specific DNase I hypersensitive site (HS -40) located 40 kb upstream of the zeta 2-globin mRNA cap site.
Autor:
R J, Gibbons, D R, Higgs
Publikováno v:
American journal of medical genetics. 97(3)
Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syn
Publikováno v:
Annals of neurology. 47(1)
Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C--T nonsense mutation in the ATRX gene. Although 2 patients have m
Publikováno v:
Blood. 95(1)
Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia that is mild to severe (hemoglobin [Hb] H disease)