Human Molecular Genetics

ARTICLES

Get checked abstract Timothy B. Brown, Alexey I. Bogush, and Michelle E. Ehrlich

Neocortical expression of mutant huntingtin is not required for alterations in striatal gene expression or motor dysfunction in a transgenic mouse
Human Molecular Genetics Advance Access published on July 16, 2008
Hum. Mol. Genet. 2008 17: 3095-3104; doi:10.1093/hmg/ddn206 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Mark Lal, Xuewen Song, Jennifer L. Pluznick, Valeria Di Giovanni, David M. Merrick, Norman D. Rosenblum, Veronique Chauvet, Cara J. Gottardi, York Pei, and Michael J. Caplan

Polycystin-1 C-terminal tail associates with β-catenin and inhibits canonical Wnt signaling
Human Molecular Genetics Advance Access published on July 16, 2008
Hum. Mol. Genet. 2008 17: 3105-3117; doi:10.1093/hmg/ddn208 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Bérénice A. Benayoun, Sandrine Caburet, Aurélie Dipietromaria, Marc Bailly-Bechet, Frank Batista, Marc Fellous, Daniel Vaiman, and Reiner A. Veitia

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles
Human Molecular Genetics Advance Access published on July 16, 2008
Hum. Mol. Genet. 2008 17: 3118-3127; doi:10.1093/hmg/ddn209 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Jose A. Rodríguez-Navarro, Ana Gómez, Izaskun Rodal, Juan Perucho, Armando Martinez, Vicente Furió, Israel Ampuero, María J. Casarejos, Rosa M. Solano, Justo García de Yébenes, and Maria A. Mena

Parkin deletion causes cerebral and systemic amyloidosis in human mutated tau over-expressing mice
Human Molecular Genetics Advance Access published on July 17, 2008
Hum. Mol. Genet. 2008 17: 3128-3143; doi:10.1093/hmg/ddn210 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Hyemyung Seo, Woori Kim, and Ole Isacson

Compensatory changes in the ubiquitin–proteasome system, brain-derived neurotrophic factor and mitochondrial complex II/III in YAC72 and R6/2 transgenic mice partially model Huntington's disease patients
Human Molecular Genetics Advance Access published on July 17, 2008
Hum. Mol. Genet. 2008 17: 3144-3153; doi:10.1093/hmg/ddn211 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Thomas Rio Frio, Natacha Civic, Adriana Ransijn, Jacques S. Beckmann, and Carlo Rivolta

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations
Human Molecular Genetics Advance Access published on July 18, 2008
Hum. Mol. Genet. 2008 17: 3154-3165; doi:10.1093/hmg/ddn212 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Morgane Stum, Emmanuelle Girard, Marie Bangratz, Véronique Bernard, Marc Herbin, Alban Vignaud, Arnaud Ferry, Claire-Sophie Davoine, Andoni Echaniz-Laguna, Frédérique René, Christophe Marcel, Jordi Molgó, Bertrand Fontaine, Eric Krejci, and Sophie Nicole

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia
Human Molecular Genetics Advance Access published on July 21, 2008
Hum. Mol. Genet. 2008 17: 3166-3179; doi:10.1093/hmg/ddn213 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Anastasia Sobolewski, Nung Rudarakanchana, Paul D. Upton, Jun Yang, Trina K. Crilley, Richard C. Trembath, and Nicholas W. Morrell

Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue
Human Molecular Genetics Advance Access published on July 21, 2008
Hum. Mol. Genet. 2008 17: 3180-3190; doi:10.1093/hmg/ddn214 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Nobutaka Sakae, Nobuyuki Yamasaki, Kiyoyuki Kitaichi, Takaichi Fukuda, Mitsunori Yamada, Hiroo Yoshikawa, Takato Hiranita, Yoshiki Tatsumi, Jun-ichi Kira, Tsuneyuki Yamamoto, Tsuyoshi Miyakawa, and Keiichi I. Nakayama

Mice lacking the schizophrenia-associated protein FEZ1 manifest hyperactivity and enhanced responsiveness to psychostimulants
Human Molecular Genetics Advance Access published on July 22, 2008
Hum. Mol. Genet. 2008 17: 3191-3203; doi:10.1093/hmg/ddn215 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Tamayo Uechi, Yukari Nakajima, Anirban Chakraborty, Hidetsugu Torihara, Sayomi Higa, and Naoya Kenmochi

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia
Human Molecular Genetics Advance Access published on July 24, 2008
Hum. Mol. Genet. 2008 17: 3204-3211; doi:10.1093/hmg/ddn216 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Masashi Ikeda, Takao Hikita, Shinichiro Taya, Junko Uraguchi-Asaki, Kazuhito Toyo-oka, Anthony Wynshaw-Boris, Hiroshi Ujike, Toshiya Inada, Keizo Takao, Tsuyoshi Miyakawa, Norio Ozaki, Kozo Kaibuchi, and Nakao Iwata

Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia
Human Molecular Genetics Advance Access published on July 24, 2008
Hum. Mol. Genet. 2008 17: 3212-3222; doi:10.1093/hmg/ddn217 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Hon Kit Wong, Peter O. Bauer, Masaru Kurosawa, Anand Goswami, Chika Washizu, Yoko Machida, Asako Tosaki, Mizuki Yamada, Thomas Knöpfel, Takemichi Nakamura, and Nobuyuki Nukina

Blocking acid-sensing ion channel 1 alleviates Huntington's disease pathology via an ubiquitin-proteasome system-dependent mechanism
Human Molecular Genetics Advance Access published on July 24, 2008
Hum. Mol. Genet. 2008 17: 3223-3235; doi:10.1093/hmg/ddn218 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Bastian Linder, Oliver Plöttner, Matthias Kroiss, Enno Hartmann, Bernhard Laggerbauer, Gunter Meister, Eva Keidel, and Utz Fischer

Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP
Human Molecular Genetics Advance Access published on July 28, 2008
Hum. Mol. Genet. 2008 17: 3236-3246; doi:10.1093/hmg/ddn219 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Tom Stiff, Karen Cerosaletti, Patrick Concannon, Mark O'Driscoll, and Penny A. Jeggo

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1
Human Molecular Genetics Advance Access published on July 28, 2008
Hum. Mol. Genet. 2008 17: 3247-3253; doi:10.1093/hmg/ddn220 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Genqing Liang, JungWoo Yang, Zuocheng Wang, Qiang Li, Yan Tang, and Xing-Zhen Chen

Polycystin-2 down-regulates cell proliferation via promoting PERK-dependent phosphorylation of eIF2
Human Molecular Genetics Advance Access published on July 29, 2008
Hum. Mol. Genet. 2008 17: 3254-3262; doi:10.1093/hmg/ddn221 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER

Cover Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn314 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn315 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn316 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn317 [PDF] [Request Permissions]  

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