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Items: 1 to 20 of 101

1.

Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.

Alvarez-Dominguez JR, Amosova O, Fresco JR.

J Biol Chem. 2013 Apr 19;288(16):11581-9. doi: 10.1074/jbc.M113.454744. Epub 2013 Mar 1.

2.

Why the DNA self-depurination mechanism operates in HB-β but not in β-globin paralogs HB-δ, HB-ɛ1, HB-γ1 and HB-γ2.

Amosova O, Alvarez-Dominguez JR, Fresco JR.

Mutat Res. 2015 Aug;778:11-7. doi: 10.1016/j.mrfmmm.2015.05.001. Epub 2015 May 19.

PMID:
26042536
3.

Dominantly Inherited beta-Thalassemia.

Efremov GD.

Hemoglobin. 2007;31(2):193-207.

PMID:
17486503
4.

A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.

de Castro CM, Devlin B, Fleenor DE, Lee ME, Kaufman RE.

Blood. 1994 Feb 15;83(4):1109-16.

5.

beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

Kazazian HH Jr, Orkin SH, Boehm CD, Sexton JP, Antonarakis SE.

Am J Hum Genet. 1983 Sep;35(5):1028-33.

6.

"Silent" nucleotide substitution in codon 24 of a beta+ thalassemia globin gene activates splice site in coding sequence RNA.

Humphries RK, Ley T, Goldsmith ME, Kantor JA, Cline AC, Nienhuis AW.

Prog Clin Biol Res. 1983;134:123-6.

PMID:
6664994
7.

Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases.

Bozdogan ST, Unsal C, Erkman H, Genc A, Yuregir OO, Muslumanoglu MH, Aslan H.

Hemoglobin. 2012;36(3):283-8. doi: 10.3109/03630269.2012.662197. Epub 2012 Mar 2.

PMID:
22385009
8.
9.

Identification of beta-globin gene mutations in Thailand using an automated fluorescence-based DNA sequencer.

Sangkitporn SK, Eksiri L, Sangnoi A, Duangruang S, Dumbua A, Rattanakittisophon K, Sangkitporn S.

Int J Lab Hematol. 2009 Oct;31(5):521-7. doi: 10.1111/j.1751-553X.2008.01072.x. Epub 2008 May 21.

PMID:
18498386
10.

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.

Guida S, Giglioni B, Comi P, Ottolenghi S, Camaschella C, Saglio G.

EMBO J. 1984 Apr;3(4):785-7.

11.

Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.

Kazazian HH Jr, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JG 3rd.

Blood. 1992 Jun 1;79(11):3014-8.

12.

Self-catalyzed site-specific depurination of G residues mediated by cruciform extrusion in closed circular DNA plasmids.

Amosova O, Kumar V, Deutsch A, Fresco JR.

J Biol Chem. 2011 Oct 21;286(42):36322-30. doi: 10.1074/jbc.M111.272112. Epub 2011 Aug 25.

13.

Characterization of beta-globin mRNA in the beta0 thalassemias.

Old JM, Proudfoot NJ, Wood WG, Longley JI, Clegg JB, Weatherall DJ.

Cell. 1978 Jun;14(2):289-98.

PMID:
667941
14.

Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan.

Asadov CD, Abdulalimov ER, Mammadova TA, Qafarova SN, Guliyeva YJ, Tuli A, Cürük MA.

Hemoglobin. 2013;37(3):291-6. doi: 10.3109/03630269.2013.774283. Epub 2013 Mar 19.

PMID:
23510507
15.

The consensus sequence for self-catalyzed site-specific G residue depurination in DNA.

Amosova O, Smith A, Fresco JR.

J Biol Chem. 2011 Oct 21;286(42):36316-21. doi: 10.1074/jbc.M111.272047. Epub 2011 Aug 25.

16.

A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.

Naritomi Y, Naito Y, Nakashima H, Yokota E, Imamura T.

Hum Genet. 1988 Sep;80(1):11-5.

PMID:
3417300
17.

"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.

Goldsmith ME, Humphries RK, Ley T, Cline A, Kantor JA, Nienhuis AW.

Proc Natl Acad Sci U S A. 1983 Apr;80(8):2318-22.

18.

Targeted correction of a thalassemia-associated beta-globin mutation induced by pseudo-complementary peptide nucleic acids.

Lonkar P, Kim KH, Kuan JY, Chin JY, Rogers FA, Knauert MP, Kole R, Nielsen PE, Glazer PM.

Nucleic Acids Res. 2009 Jun;37(11):3635-44. doi: 10.1093/nar/gkp217. Epub 2009 Apr 13.

19.

IVSII-666 of human beta-globin gene: a polymorphic marker linked to codon 8(-AA) mutation.

Akhavan-Niaki H, Seresti SS, Asghari B, Banihashemi A.

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):573-6. doi: 10.1089/gtmb.2010.0242. Epub 2011 Mar 31.

PMID:
21453056
20.

Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.

Inati A, Abbas HA, Al-Danaf J, Souaid M, Kahale M, Koussa S, Abou Nasr T, Davis L, Luo HY, Chui DH.

Hemoglobin. 2013;37(2):171-5. doi: 10.3109/03630269.2013.772523.

PMID:
23470150

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