Human Molecular Genetics

Interaction between LIS1 and doublecortin, two lissencephaly gene products
pp. 2205-2213(9)
Authors: Caspi, Michal; Atlas, Roee; Kantor, Ayelet; Sapir, Tamar; Reiner, Orly

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q
pp. 2215-2221(7)
Authors: Lamlum, Hanan; Al, Nada; Jaeger, Emma; Frayling, Ian; Sieber, Oliver; Reza, Faisal Bin; Eckert, Maria; Rowan, Andrew; Barclay, Ella; Atkin, Wendy; Williams, Christopher; Gilbert, John; Cheadle, Jeremy; Bell, Jennie; Houlston, Richard; Bodmer, Walter; Sampson, Julian; Tomlinson, Ian

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
pp. 2223-2229(7)
Authors: Blondeau, François; Laporte, Jocelyn; Bodin, Stephane; Superti-Furga, Giulio; Payrastre, Bernard; Mandel, Jean-Louis

Identification of WTAP, a novel Wilms’ tumour 1-associating protein
pp. 2231-2239(9)
Authors: Little, Natalie A.; Hastie, Nicholas D.; Davies, Rachel C.

Genetic dissection of a rat model for rheumatoid arthritis: significant gender influences on autosomal modifier loci
pp. 2241-2250(10)
Authors: Furuya, Takefumi; Salstrom, Jennifer L.; McCall-Vining, Shawna; Cannon, Grant W.; Joe, Bina; Remmers, Elaine F.; Griffiths, Marie M.; Wilder, Ronald L.

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
pp. 2251-2261(11)
Authors: Ganesh, Subramaniam; Agarwala, Kishan Lal; Ueda, Kazunori; Akagi, Takumi; Shoda, Keiko; Usui, Takeo; Hashikawa, Tsutomu; Osada, Hiroyuki; Delgado-Escueta, Antonio V.; Yamakawa, Kazuhiro

Two imprinted gene mutations: three phenotypes
pp. 2263-2273(11)
Authors: Cattanach, Bruce M.; Peters, Josephine; Ball, Simon; Rasberry, Carol

The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer’s disease
pp. 2275-2280(6)
Authors: Lambert, Jean-Charles; Goumidi, Louisa; Vrièze, Fabienne Wavrant-De; Frigard, Bernard; Harris, Judith M.; Cummings, Alistair; Coates, John; Pasquier, Florence; Cottel, Dominique; Gaillac, Marianne; St, David; Mann, David M.A.; Hardy, John; Lendon, Corinne L.; Amouyel, Philippe; Chartier-Harlin, Marie-Christine

Alzheimer’s disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein
pp. 2281-2289(9)
Authors: Tanahashi, Hiroshi; Tabira, Takeshi

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
pp. 2291-2296(6)
Authors: Sun, Chao; Skaletsky, Helen; Rozen, Steve; Gromoll, Jörg; Nieschlag, Eberhard; Oates, Robert; Page, David C.

RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia
pp. 2297-2304(8)
Authors: Beghini, Alessandro; Ripamonti, Carla B.; Peterlongo, Paolo; Roversi, Gaia; Cairoli, Roberto; Morra, Enrica; Larizza, Lidia

Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein
pp. 2305-2312(8)
Authors: Davidson, Jennifer D.; Riley, Brigit; Burright, Eric N.; Duvick, Lisa A.; Zoghbi, Huda Y.; Orr, Harry T.

Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase
pp. 2313-2320(8)
Authors: Mounsey, J. Paul; Mistry, Dilaawar J.; Ai, Cui Wei; Reddy, Sita; Moorman, J. Randall

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
pp. 2321-2328(8)
Authors: Calado, Angelo; Tomé, Fernando M.S.; Brais, Bernard; Rouleau, G.A.; Kühn, Uwe; Wahle, Elmar; Carmo-Fonseca, Maria

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts
pp. 2329-2334(6)
Authors: Francis, Peter; Chung, Jean-Ju; Yasui, Masato; Berry, Vanita; Moore, Anthony; Wyatt, M. Keith; Wistow, Graeme; Bhattacharya, Shomi S.; Agre, Peter

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
pp. 2335-2340(6)
Authors: Herrmann, Ralf; Straub, Volker; Blank, Martina; Kutzick, Christian; Franke, Nicola; Jacob, Eva Neuen; Lenard, Hans-Gerd; Kröger, Stephan; Voit, Thomas

Structural and functional analysis of mutations in alkaptonuria
pp. 2341-2350(10)
Authors: Rodríguez, José M.; Timm, David E.; Titus, Gregory P.; Beltrán-Valero de Bernabé, D.; Criado, O.; Mueller, Heather A.; Rodríguez de Córdoba, S.; Peñalva, M.A.