HUM-MOLGEN archive: LITE: TOC Human Molecular Genetics

============================================ Human Molecular Genetics - ISSN 1964-6906 Volume 6, No 13 December 1997 ============================================ Executive Editors:- K E Davies, Oxford, UK Huntingdon F Willard, Cleveland, OH, USA ============================================ CONTENTS ============================================ NOTES: 1. Tables of contents for Human Molecular Genetics from May 1995 to the latest issue can be found on the HUM-MOLGEN web site at:- http://www.informatik.uni-rostock.de/HUM- MOLGEN/journals/HMG/ 2. Abstracts for the papers listed below will shortly be available at the Oxford University Press World Wide Web site. Simply go to the Human Molecular Genetics home page at:- http://www.oup.co.uk/hmg/ and click on "Contents and Abstracts of Current Issues" ============================================ Towards an ovine model of cystic fibrosis p. 2191 A. Harris Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina p. 2195 S. Kameya, E. Araki, M. Katsuki, A. Mizota, E. Adachi, K. Nakahara, I. Nonaka, S. Sakuragi, S. Takeda and Y-i. Nabeshima Huntingtin associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin p. 2205 S. Engelender, A.H. Sharp, V. Colomer, M.K. Tokito, A. Lanahan, P. Worley, E.L.F. Holzbaur and C.A. Ross Functional modeling of vitamin responsiveness in yeast: a common pyroxidone-responsive cystathione beta-synthase mutation in homocystinuria p. 2213 C.E. Kim, P.M. Gallagher, A.B. Guttormsen, H. Refsum, P.M. Ueland, L. Ose, I. Folling, A.S. Whitehead, M.Y. Tsai and W.D. Kruger Activation of the human transglutaminase 1 promoter in transgenic mice: terminal differentiation-specific expression of the TGM1-lacZ transgene in keratinized stratified squamous epithelia p. 2223 K. Yamada, M. Matsuki, Y. Morishima, E. Ueda, K. Tabata, H. Yasuno, M. Suzuki and K. Yamanishi Serotonin transporter (5-HTT) gene variants associated with autism p. 2233 S.M. Klauck, F. Poustka, A. Benner, K-P. Lesch and A. Poustka Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy p. 2239 E.A. Shoubridge, T. Johns and G. Karpati Paternal expression of WT1 in human fibroblasts and lymphocytes p. 2243 K. Mitsuya, H. Sui, M. Meguro, H. Kugoh, Y. Jinno, N. Niikawa and M. Oshimura Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1 p. 2247 S. Abdelhak, V. Kalatzis, R. Heilig, S. Compain, D. Samson, C. Vincent, F. Levi-Acobas, C. Cruaud, M. Le Merrer, M. Mathieu, R. Konig, J. Vigneron, J. Weissenbach, C. Petit and D. Weil Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy p. 2257 L. Cartegni, M.R. di Barletta, R. Barresi, S. Squarzoni, P. Sabatelli, N. Maraldi, M. Mora, C. Di Blasi, F. Cornelio, L. Merlini, A. Villa, F. Cobianchi and D. Toniolo Female germline mosaicism in tuberous sclerosis confirmed by molecular genetics analysis p. 2265 J.R.W. Yates, I.van Bakel, T. Sepp, S.J. Payne, D.W. Webb, N.C. Nevin and A.J. Green An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity p. 2271 C.-K. Jiang, R. Hong, S.D. Horowitz, X.-P. Kong and R. Hirschhorn Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21 p. 2279 T.C. Hart, D.W. Bowden, J. Bolyard, K. Kula, K. Hall and J.T. Wright Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung p. 2285 L.V. Debelenko, E. Brambilla, S.K. Agarwal, J.I. Swalwell, M.B. Kester, I.A. Lubensky, Z. Zhuang, S.C. Guru, P. Manickam, S-E. Olufemi, S.C. Chandrasekharappa, J.S.Crabtree, Y.S. Kim, C. Heppner, A.L. Burns, A.M. Spiegel, S.J. Marx, L.A. Liotta, F.S. Collins, W.D. Travis and M.R. Emmert-Buck Sequences from higher primates orthologous to the human Xp/Yp telomere-junction region reveal gross rearrangements and high levels of divergence p. 2291 D.M. Baird and N.J. Royle Efficient conditional mutation of the vertebrate CENP-C gene p. 2301 T. Fukagawa and W.R.A. Brown Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes p. 2309 P. Vehmanen, L.S. Friedman, H. Eerola, M. McClure, B. Ward, L. Sarantaus, T. Kainu, K. Syrjakoski, S. Pyrhonen, O.-P. Kallioniemi, T. Muhonen, M. Luce, T.S. Frank and H. Nevanlinna A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis p. 2317 S. Saunier, J. Calado, R. Heilig, F. Silbermann, F. Benessy, G. Morin, M. Konrad, M. Broyer, M.-C. Gubler, J. Weissenbach and C. Antignac ============================================ Human Molecular Genetics is a monthly journal of original peer-reviewed research, published by Oxford University Press. In addition to the regular monthly issues, a special review issue, reviewing important developments in the field, is published each year. The papers listed above will appear in the December 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 19 November 1997. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Journals Subscriptions Department Oxford University Press Great Clarendon Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267907 Fax: +44 1865 267485 E-mail: jnl.orders@oup.co.uk Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate them further, provided that Oxford University Press is credited as publisher and copyright holder. ************************************************************************ Dr. Arthur A.B. Bergen Department of Ophthalmogenetics The Netherlands Ophthalmic Research Institute (IOI) Royal Academy of Sciences of the Netherlands (KNAW) ** Snail-mail: ** ** FAX: ** ** E-mail: ** P.O.Box 12141 (+31)206916521 A.Bergen@IOI.KNAW.NL 1100 AC Amsterdam The Netherlands ************************************************************************