Human Molecular Genetics

ARTICLES

Get checked abstract Tatiana V. Cohen, Kimberly D. Klarmann, Krisada Sakchaisri, Jason P. Cooper, Douglas Kuhns, Miriam Anver, Peter F. Johnson, Simon C. Williams, Jonathan R. Keller, and Colin L. Stewart

The lamin B receptor under transcriptional control of C/EBP is required for morphological but not functional maturation of neutrophils
Human Molecular Genetics Advance Access published on July 11, 2008
Hum. Mol. Genet. 2008 17: 2921-2933; doi:10.1093/hmg/ddn191 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Margit Rosner and Markus Hengstschläger

Cytoplasmic and nuclear distribution of the protein complexes mTORC1 and mTORC2: rapamycin triggers dephosphorylation and delocalization of the mTORC2 components rictor and sin1
Human Molecular Genetics Advance Access published on July 8, 2008
Hum. Mol. Genet. 2008 17: 2934-2948; doi:10.1093/hmg/ddn192 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Danielle M. Maatouk, Leo DiNapoli, Ashley Alvers, Keith L. Parker, Makoto M. Taketo, and Blanche Capel

Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal
Human Molecular Genetics Advance Access published on July 9, 2008
Hum. Mol. Genet. 2008 17: 2949-2955; doi:10.1093/hmg/ddn193 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Balazs Hegedus, Tu-Hsueh Yeh, Da Yong Lee, Ryan J. Emnett, Jia Li, and David H. Gutmann

Neurofibromin regulates somatic growth through the hypothalamic–pituitary axis
Human Molecular Genetics Advance Access published on July 9, 2008
Hum. Mol. Genet. 2008 17: 2956-2966; doi:10.1093/hmg/ddn194 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Johannes Kapeller, Lesley A. Houghton, Hubert Mönnikes, Jutta Walstab, Dorothee Möller, Heinz Bönisch, Barbara Burwinkel, Frank Autschbach, Benjamin Funke, Felix Lasitschka, Nikolaus Gassler, Christine Fischer, Peter J. Whorwell, Wendy Atkinson, Catherine Fell, Karl J. Büchner, Marco Schmidtmann, Ivo van der Voort, Anna-Sophia Wisser, Thomas Berg, Gudrun Rappold, and Beate Niesler

First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome
Human Molecular Genetics Advance Access published on July 9, 2008
Hum. Mol. Genet. 2008 17: 2967-2977; doi:10.1093/hmg/ddn195 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Nicholas Warr, Nicola Powles-Glover, Anna Chappell, Joan Robson, Dominic Norris, and Ruth M. Arkell

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation
Human Molecular Genetics Advance Access published on July 9, 2008
Hum. Mol. Genet. 2008 17: 2986-2996; doi:10.1093/hmg/ddn197 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Tomoki Kuwahara, Akihiko Koyama, Shingo Koyama, Sawako Yoshina, Chang-Hong Ren, Takeo Kato, Shohei Mitani, and Takeshi Iwatsubo

A systematic RNAi screen reveals involvement of endocytic pathway in neuronal dysfunction in -synuclein transgenic C. elegans
Human Molecular Genetics Advance Access published on July 9, 2008
Hum. Mol. Genet. 2008 17: 2997-3009; doi:10.1093/hmg/ddn198 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Deepti Dubey and Subramaniam Ganesh

Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy
Human Molecular Genetics Advance Access published on July 10, 2008
Hum. Mol. Genet. 2008 17: 3010-3020; doi:10.1093/hmg/ddn199 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Nikolaos Mellios, Hsien-Sung Huang, Anastasia Grigorenko, Evgeny Rogaev, and Schahram Akbarian

A set of differentially expressed miRNAs, including miR-30a-5p, act as post-transcriptional inhibitors of BDNF in prefrontal cortex
Human Molecular Genetics Advance Access published on July 15, 2008
Hum. Mol. Genet. 2008 17: 3030-3042; doi:10.1093/hmg/ddn201 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Hugo F. Mendes and Michael E. Cheetham

Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa
Human Molecular Genetics Advance Access published on July 17, 2008
Hum. Mol. Genet. 2008 17: 3043-3054; doi:10.1093/hmg/ddn202 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Teruki Yanagi, Masashi Akiyama, Hiroshi Nishihara, Kaori Sakai, Wataru Nishie, Shinya Tanaka, and Hiroshi Shimizu

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects
Human Molecular Genetics Advance Access published on July 15, 2008
Hum. Mol. Genet. 2008 17: 3075-3083; doi:10.1093/hmg/ddn204 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Michelle J. Rugless, Chris A. Fisher, John M. Old, Jacqueline Sloane-Stanley, Helena Ayyub, Douglas R. Higgs, and David Garrick

A large deletion in the human -globin cluster caused by a replication error is associated with an unexpectedly mild phenotype
Human Molecular Genetics Advance Access published on July 15, 2008
Hum. Mol. Genet. 2008 17: 3084-3093; doi:10.1093/hmg/ddn205 [Abstract] [Full Text] [PDF] [Request Permissions]  

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