Human Molecular Genetics

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression
pp. 325-331(7)
Authors: Theuns, Jessie; Del-Favero, Jurgen; Dermaut, Bart; Duijn, Cornelia M. van; Backhovens, Hubert; Broeck, Marleen Van den; Serneels, Sally; Corsmit, Ellen; Broeckhoven, Christine Van; Cruts, Marc

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn^-/- mice and results in a mouse with spinal muscular atrophy
pp. 333-339(7)
Authors: Monani, Umrao R.; Sendtner, Michael; Coovert, Daniel D.; Parsons, D. William; Andreassi, Catia; Le, Thanh T.; Jablonka, Sibylle; Schrank, Berthold; Rossol, Wilfred; Prior, Thomas W.; Morris, Glenn E.; Burghes, Arthur H.M.

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III
pp. 341-346(6)
Authors: Jablonka, Sibylle; Schrank, Bertold; Kralewski, Martina; Rossoll, Wilfried; Sendtner, Michael

Microsatellite instability in tumors as a model to study the process of microsatellite mutations
pp. 347-352(6)
Authors: Sturzeneker, Rosane; Bevilacqua, Roberta A.U.; Haddad, Luciana A.; Simpson, Andrew J.G.; Pena, Sérgio D.J.

Altered cholesterol metabolism in human apolipoprotein E4 knock-in mice
pp. 353-361(9)
Authors: Hamanaka, Hiroki; Katoh-Fukui, Yuko; Suzuki, Kazuo; Kobayashi, Mariko; Suzuki, Rika; Motegi, Yoshiko; Nakahara, Yoko; Takeshita, Aya; Kawai, Mizue; Ishiguro, Koichi; Yokoyama, Minesuke; Fujita, Shinobu C.

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
pp. 363-366(4)
Authors: Azuma, Noriyuki; Hirakiyama, Asami; Inoue, Tadashi; Asaka, Atsuko; Yamada, Masao

Multiple CYP1B1mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novoevents and a dominant modifier locus
pp. 367-374(8)
Authors: Bejjani, Bassem A.; Stockton, David W.; Lewis, Richard Alan; Tomey, Karim F.; Dueker, David K.; Jabak, Monzer; Astle, William F.; Lupski, James R.

The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes
pp. 375-385(11)
Authors: Oh, Jangsuk; Liu, Zhen-Xiang; Feng, Guo Hong; Raposo, Graça; Spritz, Richard A.

Huntingtin is required for normal hematopoiesis
pp. 387-394(8)
Authors: Metzler, Martina; Helgason, Cheryl D.; Dragatsis, Ioannis; Zhang, Taiqi; Gan, Lu; Pineault, Nicolas; Zeitlin, Scott O.; Humphries, R. Keith; Hayden, Michael R.

Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
pp. 395-401(7)
Authors: Ciccodicola, Alfredo; D'Esposito, Maurizio; Esposito, Teresa; Gianfrancesco, Fernando; Migliaccio, Carmela; Miano, Maria Giuseppina; Matarazzo, Maria Rosaria; Vacca, Marcella; Franzè, Annamaria; Cuccurese, Monica; Cocchia, Massimo; Curci, Anna; Terracciano, Antonio; Torino, Anna; Cocchia, Silvia; Mercadante, Grazia; Pannone, Emilio; Archidiacono, Nicoletta; Rocchi, Mariano; Schlessinger, David; D'Urso, Michele

The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes
pp. 403-411(9)
Authors: Ouellette, Michel M.; McDaniel, Lisa D.; Wright, Woodring E.; Shay, Jerry W.; Schultz, Roger A.

Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome
pp. 413-419(7)
Authors: Carter, Mark G.; Johns, Margaret A.; Zeng, Xiaobei; Zhou, Li; Zink, M. Christine; Mankowski, Joseph L.; Donovan, David M.; Baylin, Stephen B.

A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome
pp. 421-430(10)
Authors: Santos, Fabrício R.; Pandya, Arpita; Kayser, Manfred; Mitchell, R. John; Liu, Aiping; Singh, Lalji; Destro-Bisol, Giovanni; Novelletto, Andrea; Qamar, Raheel; Mehdi, S. Qasim; Adhikari, Raju; Knijff, Peter de; Tyler-Smith, Chris

Functional analysis of novel mutations in y⁺LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)
pp. 431-438(8)
Authors: Mykkänen, Juha; Torrents, David; Pineda, Marta; Camps, Marta; Yoldi, Maria Eugenia; Horelli-Kuitunen, Nina; Huoponen, Kirsi; Heinonen, Minna; Oksanen, Jussi; Simell, Olli; Savontaus, Marja-Liisa; Zorzano, Antonio; Palacín, Manuel; Aula, Pertti

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
pp. 439-445(7)
Authors: Fortune, M. Teresa; Vassilopoulos, Christos; Coolbaugh, Mary I.; Siciliano, Michael J.; Monckton, Darren G.

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
pp. 447-452(6)
Authors: Koptides, Michael; Mean, Richard; Demetriou, Kyproula; Pierides, Alkis; Deltas, C. Constantinou

The cell cycle control gene ZAC/PLAGL1 is imprinted—a strong candidate gene for transient neonatal diabetes
pp. 453-460(8)
Authors: Kamiya, Mamoru; Judson, Hannah; Okazaki, Yasushi; Kusakabe, Moriaki; Muramatsu, Masami; Takada, Shuji; Takagi, Nobuo; Arima, Takahiro; Wake, Norio; Kamimura, Katsunori; Satomura, Kenichi; Hermann, Robert; Bonthron, David T.; Hayashizaki, Yoshihide