Gene Review:
SPTB - spectrin, beta, erythrocytic
Homo sapiens
Synonyms:
Beta-I spectrin, EL3, HS2, HSPTB1, SPH2, ...
- Molecular basis of red cell membrane disorders. Delaunay, J. Acta Haematol. (2002)
- Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. Miraglia del Giudice, E., Lombardi, C., Francese, M., Nobili, B., Conte, M.L., Amendola, G., Cutillo, S., Iolascon, A., Perrotta, S. Br. J. Haematol. (1998)
- The Alabama Preterm Birth Project: placental histology in recurrent spontaneous and indicated preterm birth. Goldenberg, R.L., Andrews, W.W., Faye-Petersen, O., Cliver, S., Goepfert, A.R., Hauth, J.C. Am. J. Obstet. Gynecol. (2006)
- Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia. Gallagher, P.G., Petruzzi, M.J., Weed, S.A., Zhang, Z., Marchesi, S.L., Mohandas, N., Morrow, J.S., Forget, B.G. J. Clin. Invest. (1997)
- The spectrin-ankyrin skeleton controls CD45 surface display and interleukin-2 production. Pradhan, D., Morrow, J. Immunity (2002)
- Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. Maillet, P., Alloisio, N., Morlé, L., Delaunay, J. Hum. Mutat. (1996)
- A StuI RFLP in the human beta-spectrin gene (SPTB). Tang, T.K., Ko, Y.L., Lien, W.P. Nucleic Acids Res. (1991)
- Structural analysis of the alpha N-terminal region of erythroid and nonerythroid spectrins by small-angle X-ray scattering. Mehboob, S., Jacob, J., May, M., Kotula, L., Thiyagarajan, P., Johnson, M.E., Fung, L.W. Biochemistry (2003)
- Relationships between DNA methylation and expression in erythrocyte membrane protein (band 3, protein 4.2, and beta-spectrin) genes during human erythroid development and differentiation. Remus, R., Kanzaki, A., Yawata, A., Wada, H., Nakanishi, H., Sugihara, T., Zeschnigk, M., Zuther, I., Schmitz, B., Naumann, F., Doerfler, W., Yawata, Y. Int. J. Hematol. (2005)
- Physical mapping of the uterine leiomyoma t(12;14)(q13-15;q24.1) breakpoint on chromosome 14 between SPTB and D14S77. Hug, K., Doney, M.K., Tyler, M.J., Grundy, D.A., Soukup, S., Houseal, T.W., Menon, A.G. Genes Chromosomes Cancer (1994)
- A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao). Garbarz, M., Galand, C., Bibas, D., Bournier, O., Devaux, I., Harousseau, J.L., Grandchamp, B., Dhermy, D. Br. J. Haematol. (1998)
- DNA methylation in promoter regions of red cell membrane protein genes in healthy individuals and patients with hereditary membrane disorders. Remus, R., Kanzaki, A., Yawata, A., Nakanishi, H., Wada, H., Sugihara, T., Zeschnigk, M., Zuther, I., Schmitz, B., Naumann, F., Doerfler, W., Yawata, Y. Int. J. Hematol. (2005)
- Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23----q24.2 by in situ hybridization. Fukushima, Y., Byers, M.G., Watkins, P.C., Winkelmann, J.C., Forget, B.G., Shows, T.B. Cytogenet. Cell Genet. (1990)
- Impact of the recent randomized trials on the use of progesterone to prevent preterm birth: A 2005 follow-up survey. Ness, A., Dias, T., Damus, K., Burd, I., Berghella, V. Am. J. Obstet. Gynecol. (2006)