Human Molecular Genetics

The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1
pp. 663-674(12)
Authors: Hannus, Stefan; Bühler, Dirk; Romano, Marta; Seraphin, Bertrand; Fischer, Utz

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein
pp. 675-684(10)
Authors: Owen, Nicholas; Doe, Claudette L.; Mellor, Jane; Davies, Kay E.

RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2 and affect splicing
pp. 685-694(10)
Authors: Venables, J.P.; Elliott, D.J.; Makarova, O.V.; Makarov, E.M.; Cooke, H.J.; Eperon, I.C.

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
pp. 695-702(8)
Authors: Clement-Jones, Mark; Schiller, Simone; Rao, Ercole; Blaschke, Rüdiger J.; Zuniga, Aimee; Zeller, Rolf; Robson, Stephen C.; Binder, Gerhard; Glass, Ian; Strachan, Tom; Lindsay, Susan; Rappold, Gudrun A.

Doublecortin mutations cluster in evolutionarily conserved functional domains
pp. 703-712(10)
Authors: Sapir, Tamar; Horesh, David; Caspi, Michal; Atlas, Roee; Burgess, Harold A.; Wolf, Sharon Grayer; Francis, Fiona; Chelly, Jamel; Elbaum, Michael; Pietrokovski, Shmuel; Reiner, Orly

Allele diversity and germline mutation at the insulin minisatellite
pp. 713-723(11)
Authors: Stead, John D.H.; Jeffreys, Alec J.

High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2recombination hotspot
pp. 725-733(9)
Authors: Jeffreys, Alec J.; Ritchie, Alistair; Neumann, Rita

Batten disease: evaluation of CLN3mutations on protein localization and function
pp. 735-744(10)
Authors: Haskell, Ronald E.; Carr, Carrie J.; Pearce, David A.; Bennett, Michael J.; Davidson, Beverly L.

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms
pp. 745-755(11)
Authors: Lux, Andreas; Gallione, Carol J.; Marchuk, Douglas A.

Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumors
pp. 757-763(7)
Authors: Müller, Sabine; van den Boom, Dirk; Zirkel, Dorothea; Köster, Hubert; Berthold, Frank; Schwab, Manfred; Westphal, Manfred; Zumkeller, Walter

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis
pp. 765-768(4)
Authors: Zhou, Xiao-Ping; Marsh, Debbie J.; Hampel, Heather; Mulliken, John B.; Gimm, Oliver; Eng, Charis

Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated
pp. 769-778(10)
Authors: Guay-Woodford, Lisa M.; Green, William J.; Lindsey, J. Russell; Beier, David R.

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
pp. 779-785(7)
Authors: Lorenzetti, Diego; Watase, Kei; Xu, Bisong; Matzuk, Martin M.; Orr, Harry T.; Zoghbi, Huda Y.

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31
pp. 787-793(7)
Authors: Coffeen, Christin M.; McKenna, Catherine E.; Koeppen, Arnulf H.; Plaster, Nikki M.; Maragakis, Nicholas; Mihalopoulos, Jason; Schwankhaus, John D.; Flanigan, Kevin M.; Gregg, Ronald G.; Ptácek, Louis J.; Fu, Ying-Hui

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
pp. 795-801(7)
Authors: Jaksch, Michaela; Ogilvie, Isla; Yao, Jianbo; Kortenhaus, Gisela; Bresser, Hans-Georg; Gerbitz, Klaus-Dieter; Shoubridge, Eric A.

Increased motoneuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of an adeno-associated virus encoding Bcl-2
pp. 803-811(9)
Authors: Azzouz, Mimoun; Hottinger, Andreas; Paterna, Jean-Charles; Zurn, Anne D.; Aebischer, Patrick; Büeler, Hansruedi

Saethre–Chotzen mutations cause TWIST protein degradation or impaired nuclear location
pp. 813-819(7)
Authors: El Ghouzzi, Vincent; Legeai-Mallet, Laurence; Aresta, Sandra; Benoist, Catherine; Munnich, Arnold; Gunzburg, Jean de; Bonaventure, Jacky

The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a
pp. 821-828(8)
Authors: Jones, Julie M.; Huang, Jian-Dong; Mermall, Valerie; Hamilton, Bruce A.; Mooseker, Mark S.; Escayg, Andrew; Copeland, Neal G.; Jenkins, Nancy A.; Meisler, Miriam H.

Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males
pp. 829-834(6)
Authors: Lim, H.N.; Chen, H.; McBride, S.; Dunning, A.M.; Nixon, R.M.; Hughes, I.A.; Hawkins, J.R.

An imprinted antisense transcript at the human GNAS1locus
pp. 835-841(7)
Authors: Hayward, Bruce E.; Bonthron, David T.

Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q
pp. 843-848(6)
Authors: Morris, Derek W.; Robinson, Lucie; Turic, Darko; Duke, Mary; Webb, Victoria; Milham, Charis; Hopkin, Elizabeth; Pound, Kirsty; Fernando, Shamira; Easton, Martha; Hamshere, Marian; Williams, Nigel; McGuffin, Peter; Stevenson, Jim; Krawczak, Michael; Owen, Michael J.; O’Donovan, Michael C.; Williams, Julie

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
pp. 849-858(10)
Authors: Frugier, Tony; Tiziano, Francesco D.; Cifuentes-Diaz, Carmen; Miniou, Pierre; Roblot, Natacha; Dierich, Andrée; Le Meur, Marianne; Melki, Judith