HUM-MOLGEN archive: LITE: Human Molecular Genetics 06:04 (April 1997 issue)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 6, No 4 April 1997 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington 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" ============================================= ARTICLE L A Clarke, C S Russell, S Pownall, C L Warrington, A Borowski, J E Dimmick, J Toone and F R Jirik Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene P. 503 REPORTS E N Burright, J D Davidson, L A Duvick, B Koshy, H Y Zoghbi and H T Orr Identification of a self-association region within the SCA1 gene product, ataxin-1 P. 513 R A Montgomery and H C Dietz Inhibition of fibrillin-1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence P. 519 A E O Trezise, R Ratcliff, T E Hawkins, M J Evans, T C Freeman, P R Romano, C F Higgins and W H Colledge Co-ordinate regulation of the cystic fibrosis and multidrug resistance genes in cystic fibrosis knockout mice P. 527 P S N Rowe, C L Oudet, F Francis, C Sinding, S Pannetier, M J Econs, T M Strom, T Meitinger, M Garabedian, A David, M-A Macher, E Questiaux, E Popowska, E Pronicka, A P Read, A Mokrzycki, F H Glorieux, M K Drezner, A Hanauer, H Lehrach, J N Goulding and J L H O'Riordan Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets P. 539 M F Moffatt and W O C M Cookson Tumour Necrosis Factor haplotypes and asthma P. 551 M E Ross, K M Allen, A K Srivastava, T Featherstone, J G Gleeson, B Hirsch, B N Harding, E Andermann, R Abdullah, M Berg, D Czapansky-Bielman, D J Flanders, R Guerrini, J Motte, A P Mira, I Scheffer, S Berkovic, F Scaravilli, R A King, D H Ledbetter, D Schlessinger, W B Dobyns and C A Walsh Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain P. 555 A Nystuen, H Costeff, O N Elpeleg, N Apter, B Bonne-Tamir, H Mohrenweiser, N Haider, E M Stone and V C Sheffield Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene P. 563 J Nakae, T Tajima, T Sugawara, F Arakane, K Hanaki, T Hotsubo, N Igarashi, Y Igarashi, T Ishii, N Koda, T Kondo, H Kohno, Y Nakagawa, K Tachibana, Y Takeshima, K Tsubouchi, J F Strauss III and K Fujieda Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia P. 571 T Arinami, M Gao, H Hamaguchi and M Toru A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia P. 577 M Vaxillaire, M Rouard, K Yamagata, N Oda, P J Kaisaki, V V Boriraj, J-C Chevre, V Boccio, R D Cox, G M Lathrop, P Dussoix, J Philippe, J Timsit, G Charpentier, G Velho, G I Bell and P Froguel Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3) P. 583 W Hoppner and M M Ritter A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A P. 587 J D Sharp, R B Wheeler, B D Lake, M Savukoski, I E Jarvela, L Peltonen, R M Gardiner and R E Williams Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23 P. 591 R E Kelsell, K Evans, C Y Gregory, A T Moore, A C Bird and D M Hunt Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p P. 597 V Nigro, Y Okazaki, A Belsito, G Piluso, Y Matsuda, L Politano, G Nigro, C Ventura, C Abbondanza, A M Molinari, D Acompara, M Nishimura, Y Hayashizaki and G A Puca Identification of the Syrian hamster cardiomyopathy gene P. 601 M-T Bihoreau, I Ceccherini, J Browne, B Kranzlin, G Romeo, G M Lathrop, M R James and N Gretz Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat P. 609 V Tiranti, A Savoia, F Forti, M-F D'Apolito, M Centra, M Rocchi and M Zeviani Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database P. 615 K Lagerstedt, S L Karsten, B-M Carlberg, W J Kleijer, T Tonnesen, U Pettersson and M-L Bondeson Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome P. 627 K Christodoulou, M Tsingis, F Deymeer, P Serdaroglu, C Ozdemir, A Al-Shehab, C Bairactaris, I Mavromatis, I Mylonas, A Evoli, K Kyriallis and L T Middleton Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type 1a) gene to chromosome 17p with evidence of genetic homogeneity P. 635 I Stoilov, A N Akarsu and M Sarfarazi Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on 2p21 P. 641 =========================================== 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 April 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 March 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.info@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. 12/02/97 April issue page 4 ************************************************************************ 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 ************************************************************************