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Subject: LITE: HMG October 1997 preview
From: Arthur Bergen <a.bergen@ioi.knaw.nl>
Date: Thu, 4 Sep 1997 16:37:59 MET
Organization: ioi.knaw.nl
Priority: normal

Human Molecular Genetics - ISSN 1964-6906
Volume 6, No 11
Executive Editors:-
K E Davies, Oxford, UK
Huntingdon F Willard, Cleveland, OH, USA


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:-


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:-


 and click on "Contents and Abstracts of
  Current Issues"


 V. Campuzano, L. Montermini, Y. Lutz, L.
 Cova, C. Hindelang, S. Jiralerspong, Y.
 Trottier, S.J. Kish,B. Faucheux, P. Trouillas,
 F.J. Authier, A. Durr,  J-L. Mandel, A. Vescovi,
 M. Pandolfo, M. Koenig

Frataxin is reduced in Friedreich ataxia patients
and is associated with mitochondrial membranes
p. 1771

 A.S. Fortin, D.A. Underhill, P. Gros

Reciprocal effect of Waardenburg syndrome
mutations on DNA-binding by the PAX-3 paired
domain and homeodomain
p. 1781

 R. Stoger, T.M. Kajimura, W.T. Brown, C.
 D. Laird

Epigenetic variation illustrated by DNA methylation patterns of
the fragile-X gene, FMR1 p. 1791

 A.H.M.M. Huq, R.S. Lovell, C-N.
 Ou, A.L. Beaudet, W.J. Craigen

X-linked glycerol kinase deficiency in the mouse
leads to growth retardation, altered fat
metabolism, autonomous glucocorticoid
secretion and neonatal death p. 1803

 J.E. Nielsen, P. Koefoed, K. Abell, L. Hasholt,
 H. Eiberg, K. Fenger, E. Niebuhr, S.A.

CAG repeat expansion in autosomal dominant
pure spastic paraplegia linked to chromosome
2p21-p24 p. 1811


 U. Fischer, D. Heckel, A. Michel, M. Janka, T.
 Hulsebos, E. Meese

Cloning of a novel transcription factor-like gene
amplified in human glioma including
astrocytoma grade I p. 1817

 B. Struk, K.H. Neldner, V.S. Rao, P. St Jean,
 K. Lindpaintner

Mapping of both autosomal recessive and
dominant variants of pseudoxanthoma elasticum
to chromosome 16p13.1 p. 1823

 K. Joehrer, S. Geley, E.M.C. Strasser-Wozak,
 R. Azziz, H.A. Wollmann, K. Schmitt, R. Kofler,
 P.C. White

CYP11B1 mutations causing non-classic adrenal
hyperplasia due to 11beta-hydroxylase
deficiency p. 1829

 S. Hofmann, M. Jaksch, R. Bezold, S.
 Mertens, S. Aholt, A. Paprotta, K-D. Gerbitz

Population genetics and disease susceptibility:
characterization of central European haplogroups
by mtDNA gene mutations, correlation with D
loop variants and association with disease
p. 1835

 E. Roessler, E. Belloni, K. Gaudenz, F. Vargas,
 S.W. Scherer, L-C. Tsui, M. Muenke

Mutations in the carboxy-terminal domain of
Sonic Hedgehog cause holoprosencephaly p. 1847

 T.S. Breschel, M.G. McInnis, R.L. Margolis,
 G. Sirugo, B. Corneliussen, S.G. Simpson, F.J.
 McMahon, D.F. MacKinnon, J.F. Xu, N.
 Pleasant, Y. Huo, R.G. Ashworth, C.
 Grundstrom, T. Grundstrom, K.K. Kidd, J.R.
 DePaulo, C.A. Ross

A novel, heritable, expanding CTG repeat in an
intron of the SEF2-1 gene on chromosome
18q21.1 p. 1855

 M.C. Canfield, B.K. Tamarappoo, A.M.
 Moses, A.S. Verkman, E.J. Holtzman

Identification and characterization of aquaporin-
2 water channel mutations causing nephrogenic
diabetes insipidus with partial vasopressin
response  p. 1865

 H.R. MacDonald, R. Wevrick

The necdin gene is deleted in Prader-Willi
syndrome and is imprinted in human and mouse
p. 1873

 J-Q. Huang, J.M. Trasler, S. Igdoura, J.
 Michaud, N. Hanai, R.A. Gravel

Apoptotic cell death in mouse models of GM2
gangliosidosis and observations on human Tay-
Sachs and Sandhoff diseases p.1879

 C. Bouchard, L. Perusse, Y.C. Chagnon, C.
 Warden, D. Ricquier

Linkage between markers in the vicinity of the
uncoupling protein 2 gene and resting metabolic
rate in humans p. 1887

 N.F. Box, J.R. Wyeth, L.E. O'Gorman, N.G.
 Martin, R.A. Sturm

Characterisation of melanocyte-stimulating
hormone receptor variant alleles in twins with
red hair p.1891

 A-L. Delezoide, C. Lasselin-Benoist, L.
 Legeai-Mallet, P. Brice, V. Senee, A. Yayon,
 A. Munnich, M. Vekemans, J. Bonaventure

Abnormal FGFR3 expression in cartilage of
thanatophoric dysplasia fetuses p.1899

 L. Lefebvre, S. Viville, S.C. Barton, F. Ishino,
 M.A. Surani

Genomic structure and parent-of-origin-specific
methylation of Peg1 p.1907

 M. D Esposito, M R. Matarazzo, A.
 Ciccodicola, M. Strazzullo, R. Mazzarella,
 N.A. Quaderi, H. Fujiwara, M.S.H. Ko, L.B.
 Rowe, A. Ricco, N. Archidiacono, M. Rocchi,
 D. Schlessinger, M. D'Urso

Differential expression pattern of XqPAR-linked
genes SYBL1 and IL9R correlates with the
structure and evolution of the region p. 1917

 N. Shani, G. Jimenez-Sanchez, G. Steel, M.
 Dean, D. Valle

Identification of a fourth half ABC transporter in
the human peroxisomal membrane p. 1925

 D.J. Lehmann, C. Johnston, A.D. Smith

Synergy between the genes for
butyrylcholinesterase K variant
and apolipoprotein E4 in late-onset confirmed
Alzheimer s disease p. 1933

 G.J. Feldman, D.E. Ward, E. Lajeunie-Renier,
 D. Saavedra, N.H. Robin, V. Proud, L.J. Robb,
 V. Der Kaloustian, J.C. Carey, M.M.
 Cohen Jr, V. Cormier, A. Munnich, E.H.
  Zackai, A.O.M. Wilkie, R.A. Price, M.

A novel phenotypic pattern in X-linked
inheritance: craniofrontonasal syndrome maps to
Xq22 p. 1937

 B. Wollnik, B.C. Schroeder, C. Kubisch, H.D.
 Esperer, P. Wieacker, T.J. Jentsch

Pathophysiological mechanisms of dominant and
recessive KVLQT1 K+ channel mutations found in
inherited cardiac arrhythmias p. 1943

 G.A. Carlson, D.R. Borchelt, A. Dake, S.
 Turner, V. Danielson, J.D. Coffin, C. Echman,
 J. Meiners, S.P. Neilsen, S.G. Younkin, K.K. Hsiao

Genetic modification of the phenotypes produced
by amyloid precursor protein overexpression in transgenic
mice p. 1951

 G. Battaglia, A. Princivalle, F. Forti, C. Lizier,
 M. Zevani

Expression of the SMN gene, the spinal muscular
atrophy determining gene, in the mammalian
central nervous system p. 1961

 C. Jodice, E. Mantuano, L. Veneziano, F.
 Trettel, G. Sabbadini, L. Calandriello, A.
 Francia, M. Spadaro, F. Pierelli, F. Salvi,
 R.A. Ophoff, R.R. Frants, M. Frontali

Episodic ataxia type 2 (EA2) and spinocerebellar
ataxia type 6 (SCA6) due to CAG repeat
expansion in the CACNA1A gene on chromosome
19p p. 1973

 A. Wild, M. Kalff-Suske, A. Vortkamp, D.
 Bornholdt, R. KUEnig, K-H. Grzeschnik

Point mutations in human GLI3 cause Greig
syndrome p. 1979

 K. Schiebel, M. Winkelmann, A. Mertz, X.
 Xu, D.C. Page, D. Weil, C. Petit, G.A. Rappold

Abnormal XY interchange between a novel
isolated protein kinase gene, PRKY, and its
homologue, PRKX, accounts for one
third of all (Y+)XX males and (Y-)XY females p.

 M.M. Maheshwar, J.P. Cheadle, A.C. Jones, J.
 Myring, A.E. Fryer, P.C. Harris, J.R. Sampson

The GAP-related domain of tuberin, the product
of the TSC2 gene, is a target for missense
mutations in tuberous sclerosis p. 1991


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

The papers listed above will appear in the
October 1997 issue, which is shortly to be
printed. Copies are scheduled for despatch
to subscribers on 19 September 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

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