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1997 - 1998 Publications

  1. Dixon, P.H., Christie, P.T., Wooding, C., Trump, D., Grieff, M., Holm, I., Gertner, J.M., Schmidtke, J., Shah, B., Shaw, N., Smith, C., Tau, C., Schlessinger, D., Whyte, M.P., and Thakker, R.V.: Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998;83: 3615-3623.

  2. Huber, R., Schlessinger, D., and Pilia, G.: Multiple Sp1 sites efficiently drive transcription of the TATA-less promoter of the human glypican 3 (GPC3) gene. Gene. 1998;214: 35-44.

  3. Jaradat, S.A., Ko, M.S., and Grossman, L.I.: Tissue-specific expression and mapping of the Cox7ah gene in mouse. Genomics. 1998;49: 363-370.

  4. Ko, M.S.H., Threat, T.A., Wang, X., Horton, J.H., Cui, Y., Pryor, E., Paris, J., Wells-Smith, J., Kitchen, J.R., Rowe, L.B., Eppig, J., Satoh, T., Brant, L., Fujiwara, H., Yotsumoto, S., and Nakashima, H.: Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998;7: 1967-1978.

  5. Mazzarella, R. and Schlessinger, D.: Pathological consequences of sequence duplications in the human genome. Genome Res. 1998;8: 1007-1021.

  6. Mazzarella, R., Pengue, G., Jones, J., Jones, C., and Schlessinger, D.: Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25. Genomics. 1998;48: 157-162.

  7. Montonen, O., Ezer, S., Saarialho-Kere, U.K., Herva, R., Karjalainen-Lindsberg, M.L., Kaitila, I., Schlessinger, D., Srivastava, A.K., Thesleff, I., and Kere, J.: The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone. J Histochem Cytochem. 1998;46: 281-289.

  8. Mumm, S., Jermak, C., Waeltz, P., Schmatz, M., Terrell, J., McCauley, B., Shoemaker, M., Srivastava, A., Kere, J., and Nagaraja, R.: 22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31. Gene. 1998;208: 147-156.

  9. Nagaraja, R., MacMillan, S., Jones, C., Masisi, M., Pengue, G., Porta, G., Miao, S., Casamassimi, A., D'Urso, M., Brownstein, B., and Schlessinger, D.: Integrated YAC/STS physical and genetic map of 22.5 Mb of human Xq24- q26 at 56-kb inter-STS resolution. Genomics. 1998;52: 247-266.

  10. Nagaraja, R., Jermak, C., Trusgnich, M., Yoon, J., MacMillan, S., McCauley, M. B., Brownstein, B., and Schlessinger, D.: YAC/STS map of 15Mb of Xp21.3-p11.3, at 100kb resolution, with refined comparisons of genetic distances and DMD structure. Gene. 1998;215: 259-267.

  11. Ring, H.Z., Vameghi-Meyers, V., Wang, W., Crabtree, G.R., and Francke, U.: Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. Genomics. 1998;51: 140-143.

  12. Schlessinger, D. and Ko, M.S.H.: Developmental genomics and its relation to aging. Genomics. 1998;52: 113-118.

  13. Schlessinger, D. and Nagaraja, R.: Impact and implications of yeast and human artificial chromosomes. Ann Med. 1998;30: 186-191.

  14. Seymour, A.B., Dash-Modi, A., O'Connell, J.R., Shaffer-Gordon, M., Mah, T.S., Stefko, S.T., Nagaraja, R., Brown, J., Kimura, A.E., Ferrell, R.E., and Gorin, M.B.: Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. Am J Hum Genet. 1998;62: 122-129.

  15. Torigoe, K., Harada, T., Kusaba, H., Uchiumi, T., Kohno, K., Green, E.D., Scherer, S.W., Tsui, L.C., Schlessinger, D., Kuwano, M., and Wada, M.: Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1. Genomics. 1998;49: 14-22.

  16. Trump, D., Dixon, P. H., Mumm, S., Wooding, C., Davies, K.E., Schlessinger, D., Whyte, M.P., and Thakker, R.V.: Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. J Med Genet. 1998;35: 905-909.

  17. Wang, W., Chi, T., Xue, Y., Zhou, S., Kuo, A., and Crabtree, G.R.: Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes. Proc Natl Acad Sci USA. 1998;95: 492-498.

  18. Yotsumoto, S., Shimada, T., Cui, C.Y., Nakashima, H., Fujiwara, H., and Ko, M.S.H.: Expression of adrenomedullin, a hypotensive peptide, in the trophoblast giant cells at the embryo implantation site in mouse. Dev Biol. 1998;203: 264-275.

  19. Zhao, K., Wang, W., Rando, O.J., Xue, Y., Swiderek, K., Kuo, A., and Crabtree, G.R.: Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling. Cell. 1998;95: 625-636.

  20. D'Esposito, M., Matarazzo, M.R., Ciccodicola, A., Strazzullo, M., Mazzarella, R., Quaderi, N.A., Fujiwara, H., Ko, M.S., Rowe, L.B., Ricco, A., Archidiacono, N., Rocchi, M., Schlessinger, D., and D'Urso, M.: Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region. Hum Mol Genet. 1997;6: 1917-1923.

  21. Esposito, T., Ciccodicola, A., Flagiello, L., Matarazzo, M.R., Migliaccio, C., Cifarelli, R.A., Visone, R., Campanile, C., Mazzarella, R., Schlessinger, D., D'Urso, M., and D'Esposito, M.: Expressed STSs and transcription of human Xq28. Gene. 1997;187: 185-191.

  22. Esposito, T., Gianfrancesco, F., Ciccodicola, A., D'Esposito, M., Nagaraja, R., Mazzarella, R., D'Urso, M., and Forabosco, A.: Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E. Genomics. 1997;43: 183-190.

  23. Ezer, S., Schlessinger, D., Srivastava, A., and Kere, J.: Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding. Hum Mol Genet. 1997;6: 1581-1587.

  24. Ferrero, G.B., Gebbia, M., Pilia, G., Witte, D., Peier, A., Hopkin, R.J., Craigen, W. J., Shaffer, L. G., Schlessinger, D., Ballabio, A., and Casey, B.: A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet. 1997;61: 395-401.

  25. Gebbia, M., Ferrero, G.B., Pilia, G., Bassi, M.T., Aylsworth, A., Penman-Splitt, M., Bird, L.M., Bamforth, J.S., Burn, J., Schlessinger, D., Nelson, D.L., and Casey, B.: X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997;17: 305-308.

  26. Gianfrancesco, F., Esposito, T., Ruini, L., Houlgatte, R., Nagaraja, R., D'Esposito, M., Rocchi, M., Auffray, C., Schlessinger, D., D'Urso, M., and Forabosco, A.: Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome. Gene. 1997;187: 179-184.

  27. Grieff, M., Mumm, S., Waeltz, P., Mazzarella, R., Whyte, M.P., Thakker, R.V., and Schlessinger, D.: Expression and cloning of the human X-linked hypophosphatemia gene cDNA. Biochem Biophys Res Commun. 1997;231: 635-639.

  28. Harada, H., Hashimoto, K., Toi, Y., Yotsunoto, S., and Ko, M.S.: Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. Arch Dermatol. 1997;133: 666-667.

  29. Kohno, K., Oshiro, T., Kishine, H., Wada, M., Takeda, H., Ihara, N., Imamoto, F., Kano, Y., and Schlessinger, D.: Construction and characterization of a rad51rad52 double mutant as a host for YAC libraries. Gene. 1997;188: 175-181.

  30. Lindsay, S., Ireland, M., O'Brien, O., Clayton-Smith, J., Hurst, J.A., Mann, J., Cole, T., Sampson, J., Slaney, S., Schlessinger, D., Burn, J., and Pilia, G.: Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. J Med Genet. 1997;34: 480-483.

  31. Mazzarella, R. and Schlessinger, D.: Duplication and distribution of repetitive elements and non-unique regions in the human genome. Gene. 1997;205: 29-38.

  32. Mazzarella, R., Pengue, G., Yoon, J., Jones, J., and Schlessinger, D.: Differential expression of XAP5, a candidate disease gene. Genomics. 1997;45: 216-219.

  33. Mumm, S., Whyte, M. P., Thakker, R. V., Buetow, K. H., and Schlessinger, D.: mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am J Hum Genet. 1997;60: 153-159.

  34. Mumm, S., Molini, B., Terrell, J., Srivastava, A., and Schlessinger, D.: Evolutionary features of the 4-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution. Genome Res. 1997;7: 307-314.

  35. Nagaraja, R., MacMillan, S., Kere, J., Jones, C., Griffin, S., Schmatz, M., Terrell, J., Shomaker, M., Jermak, C., Hott, C., Masisi, M., Mumm, S., Srivastava, A., Pilia, G., Featherstone, T., Mazzarella, R., Kesterson, S., McCauley, B., Railey, B., Burough, F., Nowotny, V., D'Urso, M., States, D., Brownstein, B., and Schlessinger, D.: X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res. 1997;7: 210-222.

  36. Palmieri, G., Miano, M.G., Casamassimi, A., Lania, A., Kohno, K., Schlessinger, D., D'Urso, M., and Featherstone, T.: Construction of a pilot human YAC library in a recombination-defective yeast strain. Gene. 1997;188: 169-174.

  37. Porta, G., MacMillan, S., Nagaraja, R., Mumm, S., Zucchi, I., Pilia, G., Maio, S., Featherstone, T., and Schlessinger, D.: 4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome. Genome Res. 1997;7: 27-36.

  38. Ross, M.E., Allen, K.M., Srivastava, A.K., Featherstone, T., Gleeson, J.G., Hirsch, B., Harding, B.N., Andermann, E., Abdullah, R., Berg, M., Czapansky-Bielman, D., Flanders, D.J., Guerrini, R., Motte, J., Mira, A.P., Scheffer, I., Berkovic, S., Scaravilli, F., King, R.A., Ledbetter, D.H., Schlessinger, D., Dobyns, W.B., and Walsh, C.A.: Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet. 1997;6: 555-562.

  39. Srivastava, A.K., Pispa, J., Hartung, A.J., Du, Y., Ezer, S., Jenks, T., Shimada, T., Pekkanen, M., Mikkola, M.L., Ko, M.S., Thesleff, I., Kere, J., and Schlessinger, D.: The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci USA. 1997;94: 13069-13074.

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