Human Molecular Genetics

Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids
pp. 1745-1756(12)
Authors: Schaeffer, Linda; Gohlke, Henning; Müller, Martina; Heid, Iris M.; Palmer, Lyle J.; Kompauer, Iris; Demmelmair, Hans; Illig, Thomas; Koletzko, Berthold; Heinrich, Joachim

Mitochondrial localization of telomerase as a determinant for hydrogen peroxide-induced mitochondrial DNA damage and apoptosis
pp. 1757-1768(12)
Authors: Santos, Janine Hertzog; Meyer, Joel N.; Van Houten, Bennett

Identification of cis-regulatory elements for MECP2 expression
pp. 1769-1782(14)
Authors: Liu, Jinglan; Francke, Uta

Defects in articular cartilage metabolism and early arthritis in fibroblast growth factor receptor 3 deficient mice
pp. 1783-1792(10)
Authors: Valverde-Franco, G.; Binette, J.S.; Li, W.; Wang, H.; Chai, S.; Laflamme, F.; Tran-Khanh, N.; Quenneville, E.; Meijers, T.; Poole, A.R.; Mort, J.S.; Buschmann, M.D.; Henderson, J.E.

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
pp. 1793-1800(8)
Authors: Proks, Peter; Arnold, Amanda L.; Flanagan, Sarah E.; Larkin, Brian; Colclough, Kevin; Hattersley, Andrew T.; Ashcroft, Frances M.; Ellard, Sian

Suppression of disease phenotypes of adult mito-mice carrying pathogenic mtDNA by bone marrow transplantation
pp. 1801-1807(7)
Authors: Inoue, Shin-Ichi; Ishikawa, Kaori; Nakada, Kazuto; Sato, Akitsugu; Miyoshi, Hiroyuki; Hayashi, Jun-Ichi

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
pp. 1808-1815(8)
Authors: Margolis, Jamie M.; Schoser, Benedikt G.; Moseley, Melinda L.; Day, John W.; Ranum, Laura P.W.

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease
pp. 1816-1825(10)
Authors: Tang, Beisha; Xiong, Hui; Sun, Ping; Zhang, Yuhu; Wang, Danling; Hu, Zhengmao; Zhu, Zanhua; Ma, Hong; Pan, Qian; Xia, Jia-hui; Xia, Kun; Zhang, Zhuohua

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL
pp. 1826-1834(9)
Authors: Kim, Sung-Jo; Zhang, Zhongjian; Hitomi, Emiko; Lee, Yi-Ching; Mukherjee, Anil B.

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1
pp. 1835-1846(12)
Authors: Antonicka, Hana; Sasarman, Florin; Kennaway, Nancy G.; Shoubridge, Eric A.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
pp. 1847-1857(11)
Authors: Chang, Bo; Khanna, Hemant; Jimeno, David; He, Shirley; Lillo, Concepcion; Parapuram, Sunil K.; Cheng, Hong; Scott, Alison; Hurd, Ron E.; Sayer, John A.; Otto, Edgar A.; Attanasio, Massimo; O'Toole, John F.; Jin, Genglin; Shou, Chengchao; Hildebrandt, Friedhelm; Williams, David S.; Heckenlively, John R.; Swaroop, Anand

Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells
pp. 1858-1869(12)
Authors: Munchhof, Amy M.; Li, Fang; Mead, Laura E.; Krier, Theresa R.; Fenoglio, Amy; Li, Xiaohong; Yuan, Jin; Yang, Feng-Chun; Ingram, David A.

Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup
pp. 1870-1875(6)
Authors: Yu, Haijing; Jiang, Huifeng; Zhou, Qi; Yang, Jufen; Cun, Yina; Su, Bing; Xiao, Chunjie; Wang, Wen

Pharmacologic and genetic inhibition of hsp90-dependent trafficking reduces aggregation and promotes degradation of the expanded glutamine androgen receptor without stress protein induction
pp. 1876-1883(8)
Authors: Thomas, Monzy; Harrell, Jennifer M.; Morishima, Yoshihiro; Peng, Hwei-Ming; Pratt, William B.; Lieberman, Andrew P.

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice
pp. 1884-1893(10)
Authors: Lloyd, David J.; Bohan, Sandy; Gekakis, Nicholas

The role of PI3K/AKT, MAPK/ERK and NFκβ signalling in the maintenance of human embryonic stem cell pluripotency and viability highlighted by transcriptional profiling and functional analysis
pp. 1894-1913(20)
Authors: Armstrong, Lyle; Hughes, Owen; Hyslop, Louise; Stewart, Rebecca; Wappler, Ilka; Peters, Heiko; Walter, Theresia; Stojkovic, Petra; Evans, Jerome; Stojkovic, Miodrag

Genetic variation in IL6 gene and type 2 diabetes: tagging-SNP haplotype analysis in large-scale case-control study and meta-analysis
pp. 1914-1920(7)
Authors: Qi, Lu; van Dam, Rob M.; Meigs, James B.; Manson, JoAnn E.; Hunter, David; Hu, Frank B.

Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells
pp. 1921-1930(10)
Authors: Li, Fang; Munchhof, Amy M.; White, Hilary A.; Mead, Laura E.; Krier, Theresa R.; Fenoglio, Amy; Chen, Shi; Wu, Xiaohua; Cai, Shanbao; Yang, Feng-Chun; Ingram, David A.