1 - 25 of 37 results for author:"Kazazian H.H. Jr." in Literature citations
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| Exon-trapping mediated by the human retrotransposon SVA. Hancks D.C., Ewing A.D., Chen J.E., Tokunaga K., Kazazian H.H. Jr. Genome Res. 19:1983-1991(2009) · Mapped (5) |
| A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids. Babushok D.V., Ohshima K., Ostertag E.M., Chen X., Wang Y., Mandal P.K., Okada N., Abrams C.S., Kazazian H.H. Jr. Genome Res. 17:1129-1138(2007) · UniProtKB (1) |
| Lower inhibitor development in hemophilia A mice following administration of recombinant factor VIII-O-phospho-L-serine complex. Purohit V.S., Ramani K., Sarkar R., Kazazian H.H. Jr., Balasubramanian S.V. J. Biol. Chem. 280:17593-17600(2005) · Mapped (7) |
| Two independent retrotransposon insertions at the same site within the coding region of BTK. Conley M.E., Partain J.D., Norland S.M., Shurtleff S.A., Kazazian H.H. Jr. Hum. Mutat. 25:324-325(2005) · Mapped (29) |
| Interaction of P-selectin and PSGL-1 generates microparticles that correct hemostasis in a mouse model of hemophilia A. Hrachovinova I., Cambien B., Hafezi-Moghadam A., Kappelmayer J., Camphausen R.T., Widom A., Xia L., Kazazian H.H. Jr., Schaub R.G., McEver R.P. et al. Nat. Med. 9:1020-1025(2003) · Mapped (27) |
| A novel active L1 retrotransposon subfamily in the mouse. Goodier J.L., Ostertag E.M., Du K., Kazazian H.H. Jr. Genome Res. 11:1677-1685(2001) · UniProtKB (3) |
| Correction of the coagulation defect in hemophilia A mice through factor VIII expression in skin. Fakharzadeh S.S., Zhang Y., Sarkar R., Kazazian H.H. Jr. Blood 95:2799-2805(2000) · Mapped (7) |
| Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. Kimberland M.L., Divoky V., Prchal J., Schwahn U., Berger W., Kazazian H.H. Jr. Hum. Mol. Genet. 8:1557-1560(1999) · UniProtKB (2) |
| Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes. Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr., Antonarakis S.E., Hill F.G.H. Hum. Mutat. 11:334-334(1998) · UniProtKB (1) |
| Analysis of the promoter from an expanding mouse retrotransposon subfamily. DeBerardinis R.J., Kazazian H.H. Jr. Genomics 56:317-323(1999) · UniProtKB (2) |
| Rapid amplification of a retrotransposon subfamily is evolving the mouse genome. DeBerardinis R.J., Goodier J.L., Ostertag E.M., Kazazian H.H. Jr. |
| Many human L1 elements are capable of retrotransposition. Sassaman D.M., Dombroski B.A., Moran J.V., Kimberland M.L., Naas T.P., DeBerardinis R.J., Gabriel A., Swergold G.D., Kazazian H.H. Jr. Nat. Genet. 16:37-43(1997) · UniProtKB (19) |
| Further characterization of factor VIII-deficient mice created by gene targeting: RNA and protein studies. Bi L., Sarkar R., Naas T., Lawler A.M., Pain J., Shumaker S.L., Bedian V., Kazazian H.H. Jr. Blood 88:3446-3450(1996) · Mapped (7) |
| Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H., Antonarakis S.E. Genomics 15:392-398(1993) · UniProtKB (1) |
| A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Holmes S.E., Dombroski B.A., Krebs C.M., Boehm C.D., Kazazian H.H. Jr. Nat. Genet. 7:143-148(1994) · UniProtKB (1) |
| Molecular etiology of factor VIII deficiency in hemophilia A. Antonarakis S.E., Kazazian H.H. Jr., Tuddenham E.G.D. Hum. Mutat. 5:1-22(1995) · UniProtKB (1) |
| Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Bi L., Lawler A.M., Antonarakis S.E., High K.A., Gearhart J.D., Kazazian H.H. Jr. Nat. Genet. 10:119-121(1995) · Mapped (7) |
| Increased expression of the G gamma and A gamma globin genes associated with a mutation in the A gamma enhancer. Balta G., Brickner H.E., Takegawa S., Kazazian H.H. Jr., Papayannopoulou T., Forget B.G., Atweh G.F. Blood 83:3727-3737(1994) · Mapped (9) |
| Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Orkin S.H., Kazazian H.H. Jr., Antonarakis S.E., Goff S.C., Boehm C.D., Sexton J.P., Waber P.G., Giardina P.J. Nature 296:627-631(1982) · Mapped (1) |
| Molecular size studies on 6-phosphogluconate dehydrogenase. Kazazian H.H. Jr. Nature 212:197-198(1966) · Mapped (2) |
| X-linked 6-phosphogluconate dehydrogenase in drosophila: subunit associations. Kazazian H.H. Jr., Young W.J., Childs B. Science 150:1601-1602(1965) · Mapped (2) |
| Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene. Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr., Antonarakis S.E. Am. J. Hum. Genet. 42:867-871(1988) · UniProtKB (1) |
| Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr. Am. J. Hum. Genet. 42:718-725(1988) · UniProtKB (1) |
| Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine). Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Fujimaki M., Hoyer L.W. Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989) · UniProtKB (1) |
| Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. Woods-Samuels P., Wong C., Mathias S.L., Scott A.F., Kazazian H.H. Jr., Antonarakis S.E. Genomics 4:290-296(1989) · UniProtKB (1) |