HUM-MOLGEN archive: LITE: TOC HMG

============================================ Human Molecular Genetics - ISSN 1964-6906 Volume 6, No 9 September 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" ============================================ ARTICLE N E Lamb, E Feingold, A Savage, D Avramopoulos, S Freeman, Y Gu, A Hallberg, J Hersey, G Karadima, D Pettay, D Saker, J Shen, L Taft, M Mikkelsen, M B Petersen, T Hassold and S L Sherman Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21 P. 1391 REPORTS H Zouali, E H Hani, A Philippi, N Vionnet, J S Beckmann, F Demenais and P Froguel A susceptibility locus for early-onset non-insulin-dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene P. 1401 I van Bakel, T Sepp, S Ward, J R W Yates and A J Green Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT) P. 1409 S Millington-Ward, B O'Neill, G Tuohy, N Al-Jandal, A-S Kiang, P F Kenna, A Palfi, P Hayden, F Mansergh, A Kennan, P Humphries and G J Farrar Strategies in vitro for gene therapies directed to dominant mutations P. 1415 F Foucault, C Vaury, A Barakat, D Thibout, P Planchon, C Jaulin, F Praz and M Amor-Gueret Characterization of a new BLM mutation associated with a topoisomerase IIalpha defect in a patient with Bloom's syndrome P. 1427 I Danko, P Williams, H Herweiger, G Zhang, J S Latendresse, I Bock and J A Wolff High expression of naked plasmid DNA in muscles of young rodents P. 1435 A Pallavicini, R Zimbello, N Tiso, T Muraro, L Rampoldi, S Bortoluzzi, G Valle, G Lanfranchi and G A Danieli The preliminary transcript map of a human skeletal muscle P. 1445 C L Kelly, W J Rhead, W K Kutschke, A E Brix, D A Hamm, C A Pinkert, J R Lindsey and P A Wood Functional correction of short-chain acyl-coA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies P. 1451 J Janata, N Kogekar and W A Fenton Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation P. 1457 F Corbin, M Bouillon, A Fortin, S Morin, F Rousseau and E W Khandjian The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes P. 1465 T J Watnick, K B Piontek, T M Cordal, H Weber, M A Gandolph, F Qian, X M Lens, H P H Neumann and G G Germino An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection P. 1473 R Sandford, B Sgotto, S Aparicio, S Brenner, M Vaudin, R K Wilson, S Chissoe, K Pepin, A Bateman, C Chothia, J Hughes and P Harris Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains P. 1483 R Y Walder, H Shalev, T M H Brennan, R Carmi, K Elbedour, D A Scott, A Hanauer, A L Mark, S Patil, E M Stone and V C Sheffield Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint P. 1491 B M de Gouyon, W Zhao, J Laporte, J-L Mandel, A Metzenberg and G E Herman Characterization of mutations in the myotubularin gene in 26 patients with X-linked myotubular myopathy P. 1499 J Laporte, C Guiraud-Chaumeil, M-C Vincent, J-L Mandel, S M Tanner, S Liechti-Gallati, C Wallgren-Pettersson, N Dahl, W Kress, P A Bolhuis, M Fardeau, F Samson, E Bertini and members of the ENMC International Consortium on Myotubular Myopathy Mutations in the MTM1 gene implicated in X-linked myotubular myopathy P. 1505 J Swensen, M Hoffman, M H Skolnick and S L Neuhausen Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family P. 1513 V Colomer, S Engelender, A H Sharp, K Duan, J K Cooper, A Lanahan, G Lyford, P Worley and C A Ross Huntingtin-associated protein 1 (HAP1) binds to a trio-like polypeptide with a rac1 guanine nucleotide exchange factor domain P. 1519 A Knoll, H Schunkert, K Reichwald, A H J Danser, D Bauer, M Platzer, G Stein and A Rosenthal Human renin binding protein: complete genomic sequence and association of an intronic T/C polymorphism with the prorenin level in males P. 1527 B T Lamb, L M Call, H H Slunt, K A Bardel, A M Lawler, C B Eckman, S G Younkin, G Holtz, S L Wagner, D L Price, S S Sisodia and J D Gearhart Altered metabolism of familial Alzheimer's disease-linked amyloid precursor protein variants in yeast artificial chromosome transgenic mice P. 1535 J A Joyce, W K Lam, D J Catchpoole, P Jenks, W Reik, E R Maher and P N Schofield Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith- Wiedemann syndrome P. 1543 N dos Santos, D R H de Bruijn, M Balemans, B Janssen, F Gartner, J M Lopes, B de Leeuw and A Geurts van Kessel Nuclear localization of SYT, SSX and the synovial sarcoma-associated SYT- SSX fusion proteins P. 1549 D Brett, S Whitehouse, P Antonson, J Shipley, C Cooper and G Goodwin The SYT protein involved in the t(X;18) synovial sarcoma is a transcriptional activator localised in nuclear bodies P. 1559 P Bois, A Collick, J Brown and A J Jeffreys Human minisatellite MS32 (D1S8) displays somatic but not germline instability in transgenic mice P. 1565 B Weber, X-H Guo, J E Wraith, A Cooper, W J Kleijer, S Bunge and J J Hopwood Novel mutations in Sanfilippo A syndrome: implications for enzyme function P. 1573 S Ezer, D Schlessinger, A Srivastava and J Kere Anhidrotic Ectodermal Dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding P. 1581 B M Ferguson, N Brockdorff, E Formstone, T Ngyuen, J E Kronmiller and J Zonana Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain P. 1589 L T Reiter, T Murakami, T Koeuth, R A Gibbs and J R Lupski The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs P. 1595 L Zelante, P Gasparini, X Estivill, S Melchionda, L D'Agruma, N Govea, M Mila, M Della Monica, J Lutfi, M Shohat, E Mansfield, K Delgrosso, E Rappaport, S Surrey and P Fortina Connexin 26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans P. 1605 ============================================ 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 September 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 August 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 ************************************************************************