Human Molecular Genetics

ARTICLES

Get checked abstract Sekiya Shibazaki, Zhiheng Yu, Saori Nishio, Xin Tian, R. Brent Thomson, Michihiro Mitobe, Angeliki Louvi, Heino Velazquez, Shuta Ishibe, Lloyd G. Cantley, Peter Igarashi, and Stefan Somlo

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1
Human Molecular Genetics Advance Access published on February 7, 2008
Hum. Mol. Genet. 2008 17: 1505-1516; doi:10.1093/hmg/ddn039 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Christos Gkogkas, Susan Middleton, Anna M. Kremer, Caroline Wardrope, Matthew Hannah, Thomas H. Gillingwater, and Paul Skehel

VAPB interacts with and modulates the activity of ATF6
Human Molecular Genetics Advance Access published on February 8, 2008
Hum. Mol. Genet. 2008 17: 1517-1526; doi:10.1093/hmg/ddn040 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Guomei Tang, Zhenyu Yue, Zsolt Talloczy, Tracy Hagemann, Woosung Cho, Albee Messing, David L. Sulzer, and James E. Goldman

Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways
Human Molecular Genetics Advance Access published on February 14, 2008
Hum. Mol. Genet. 2008 17: 1540-1555; doi:10.1093/hmg/ddn042 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Volkan Seyrantepe, Maryssa Canuel, Stéphane Carpentier, Karine Landry, Stéphanie Durand, Feng Liang, Jibin Zeng, Aurore Caqueret, Roy A. Gravel, Sergio Marchesini, Claudia Zwingmann, Jacques Michaud, Carlos R. Morales, Thierry Levade, and Alexey V. Pshezhetsky

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage
Human Molecular Genetics Advance Access published on February 11, 2008
Hum. Mol. Genet. 2008 17: 1556-1568; doi:10.1093/hmg/ddn043 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Justin Nussbaum, Qing Xu, Thomas J. Payne, Jennie Z. Ma, Weihua Huang, Joel Gelernter, and Ming D. Li

Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers
Human Molecular Genetics Advance Access published on February 11, 2008
Hum. Mol. Genet. 2008 17: 1569-1577; doi:10.1093/hmg/ddn044 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Vishal Patel, Ling Li, Patricia Cobo-Stark, Xinli Shao, Stefan Somlo, Fangming Lin, and Peter Igarashi

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia
Human Molecular Genetics Advance Access published on February 9, 2008
Hum. Mol. Genet. 2008 17: 1578-1590; doi:10.1093/hmg/ddn045 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Neggy Rismanchi, Cynthia Soderblom, Julia Stadler, Peng-Peng Zhu, and Craig Blackstone

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis
Human Molecular Genetics Advance Access published on February 12, 2008
Hum. Mol. Genet. 2008 17: 1591-1604; doi:10.1093/hmg/ddn046 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Chun-Hong Xia, Haiquan Liu, Debra Cheung, Meng Wang, Catherine Cheng, Xin Du, Bo Chang, Bruce Beutler, and Xiaohua Gong

A model for familial exudative vitreoretinopathy caused by LPR5 mutations
Human Molecular Genetics Advance Access published on February 9, 2008
Hum. Mol. Genet. 2008 17: 1605-1612; doi:10.1093/hmg/ddn047 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Yoshiro Suzuki, Andreas Pasch, Olivier Bonny, Markus G. Mohaupt, Matthias A. Hediger, and Felix J. Frey

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation
Human Molecular Genetics Advance Access published on February 13, 2008
Hum. Mol. Genet. 2008 17: 1613-1618; doi:10.1093/hmg/ddn048 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Digna R. Velez, Stephen J. Fortunato, Scott M. Williams, and Ramkumar Menon

Interleukin-6 (IL-6) and receptor (IL6-R) gene haplotypes associate with amniotic fluid protein concentrations in preterm birth
Human Molecular Genetics Advance Access published on February 14, 2008
Hum. Mol. Genet. 2008 17: 1619-1630; doi:10.1093/hmg/ddn049 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Yuki Okada, Chiaki Tashiro, Koji Numata, Kazufumi Watanabe, Hajime Nakaoka, Naoyuki Yamamoto, Kazue Okubo, Rieko Ikeda, Rintaro Saito, Akio Kanai, Kuniya Abe, Masaru Tomita, and Hidenori Kiyosawa

Comparative expression analysis uncovers novel features of endogenous antisense transcription
Human Molecular Genetics Advance Access published on February 18, 2008
Hum. Mol. Genet. 2008 17: 1631-1640; doi:10.1093/hmg/ddn051 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Yutong Xue, Yongjiang Li, Rong Guo, Chen Ling, and Weidong Wang

FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair
Human Molecular Genetics Advance Access published on February 19, 2008
Hum. Mol. Genet. 2008 17: 1641-1652; doi:10.1093/hmg/ddn054 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Amanda L. Fortier, Flavia L. Lopes, Nicole Darricarrère, Josée Martel, and Jacquetta M. Trasler

Superovulation alters the expression of imprinted genes in the midgestation mouse placenta
Human Molecular Genetics Advance Access published on February 20, 2008
Hum. Mol. Genet. 2008 17: 1653-1665; doi:10.1093/hmg/ddn055 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Angelica Olsson, Lisbet Lind, Lars-Eric Thornell, and Monica Holmberg

Myopathy with lactic acidosis is linked to chromosome 12q23.3–24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
Human Molecular Genetics Advance Access published on February 23, 2008
Hum. Mol. Genet. 2008 17: 1666-1672; doi:10.1093/hmg/ddn057 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Christina Orsmark-Pietras, Erik Melén, Johanna Vendelin, Sara Bruce, Annika Laitinen, Lauri A. Laitinen, Roger Lauener, Josef Riedler, Erika von Mutius, Gert Doekes, Magnus Wickman, Marianne van Hage, Göran Pershagen, Annika Scheynius, Fredrik Nyberg, Juha Kere, and the PARSIFAL Genetics Study Group

Biological and genetic interaction between Tenascin C and Neuropeptide S receptor 1 in allergic diseases
Human Molecular Genetics Advance Access published on February 27, 2008
Hum. Mol. Genet. 2008 17: 1673-1682; doi:10.1093/hmg/ddn058 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract M. Talat Nasim, Amar Ghouri, Bhakti Patel, Victoria James, Nung Rudarakanchana, Nicholas W. Morrell, and Richard C. Trembath

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension
Human Molecular Genetics Advance Access published on March 4, 2008
Hum. Mol. Genet. 2008 17: 1683-1694; doi:10.1093/hmg/ddn059 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Latisha Love-Gregory, Richard Sherva, Lingwei Sun, Jon Wasson, Timothy Schappe, Alessandro Doria, D.C. Rao, Steven C. Hunt, Samuel Klein, Rosalind J. Neuman, M. Alan Permutt, and Nada A. Abumrad

Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol
Human Molecular Genetics Advance Access published on February 27, 2008
Hum. Mol. Genet. 2008 17: 1695-1704; doi:10.1093/hmg/ddn060 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM

Ken Inoue, Tomoko Ohyama, Yosuke Sakuragi, Ryoko Yamamoto, Naoko A. Inoue, Li-Hua Yu, Yu-ichi Goto, Michael Wegner, and James R. Lupski

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain
Human Molecular Genetics Advance Access published on March 8, 2008
Hum. Mol. Genet. 2008 17: 1705; doi:10.1093/hmg/ddn056 [Extract] [Full Text] [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.