Human Molecular Genetics

Positive selection drives population differentiation in the skeletal genes in modern humans
pp. 2341-2346(6)
Authors: Wu, Dong-Dong; Zhang, Ya-Ping

A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis
pp. 2347-2359(13)
Authors: Neumann-Haefelin, Elke; Kramer-Zucker, Albrecht; Slanchev, Krasimir; Hartleben, Bjrn; Noutsou, Foteini; Martin, Katrin; Wanner, Nicola; Ritter, Alexander; Gdel, Markus; Pagel, Philip; Fu, Xiao; Mller, Alexandra; Baumeister, Ralf; Walz, Gerd; Huber, Tobias B.

A novel requirement in mammalian spermatid differentiation for the DAZ-family protein Boule
pp. 2360-2369(10)
Authors: VanGompel, Michael J.W.; Xu, Eugene Yujun

Mutations in MUSK causing congenital myasthenic syndrome impair MuSKDok-7 interaction
pp. 2370-2379(10)
Authors: Maselli, Ricardo A.; Arredondo, Juan; Cagney, rla; Ng, Jarae J.; Anderson, Jennifer A.; Williams, Colette; Gerke, Bae J.; Soliven, Betty; Wollmann, Robert L.

Silencing ataxin-3 mitigates degeneration in a rat model of MachadoJoseph disease: no role for wild-type ataxin-3?
pp. 2380-2394(15)
Authors: Alves, Sandro; Nascimento-Ferreira, Isabel; Dufour, Nolle; Hassig, Raymonde; Auregan, Gwennalle; Nbrega, Clvio; Brouillet, Emmanuel; Hantraye, Philippe; Pedroso de Lima, Maria C.; Dglon, Nicole; de Almeida, Lus Pereira

Parkinson disease protein DJ-1 converts from a zymogen to a protease by carboxyl-terminal cleavage
pp. 2395-2408(14)
Authors: Chen, Jue; Li, Lian; Chin, Lih-Shen

SOX10 structurefunction analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies
pp. 2409-2420(12)
Authors: Cossais, Franois; Wahlbuhl, Mandy; Kriesch, Jana; Wegner, Michael

The NanceHoran syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology
pp. 2421-2432(12)
Authors: Brooks, Simon P.; Coccia, Margherita; Tang, Hao R.; Kanuga, Naheed; Machesky, Laura M.; Bailly, Maryse; Cheetham, Michael E.; Hardcastle, Alison J.

Zebrafish models of collagen VI-related myopathies
pp. 2433-2444(12)
Authors: Telfer, W.R.; Busta, A.S.; Bonnemann, C.G.; Feldman, E.L.; Dowling, J.J.

Inhibiting the ubiquitinproteasome system leads to preferential accumulation of toxic N-terminal mutant huntingtin fragments
pp. 2445-2455(11)
Authors: Li, Xiang; Wang, Chuan-En; Huang, Shanshan; Xu, Xingshun; Li, Xiao-Jiang; Li, He; Li, Shihua

ELF5-enforced transcriptional networks define an epigenetically regulated trophoblast stem cell compartment in the human placenta
pp. 2456-2467(12)
Authors: Hemberger, Myriam; Udayashankar, Ramya; Tesar, Paul; Moore, Harry; Burton, Graham J.

Transcriptome analysis and molecular signature of human retinal pigment epithelium
pp. 2468-2486(19)
Authors: Strunnikova, N.V.; Maminishkis, A.; Barb, J.J.; Wang, F.; Zhi, C.; Sergeev, Y.; Chen, W.; Edwards, A.O.; Stambolian, D.; Abecasis, G.; Swaroop, A.; Munson, P.J.; Miller, S.S.

The DISC1 Ser704Cys substitution affects centrosomal localization of its binding partner PCM1 in glia in human brain
pp. 2487-2496(10)
Authors: Eastwood, Sharon L.; Walker, Mary; Hyde, Thomas M.; Kleinman, Joel E.; Harrison, Paul J.

A systematic gene-based screen of chr4q22q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts
pp. 2497-2506(10)
Authors: Kalsi, Gursharan; Kuo, Po-Hsiu; Aliev, Fazil; Alexander, Jeffry; McMichael, Omari; Patterson, Diana G.; Walsh, Dermot; Zhao, Zhongming; Schuckit, Marc; Nurnberger, John; Edenberg, Howard; Kramer, John; Vladimirov, Vladimir; Prescott, Carol A.; Dick, Danielle M.; Kendler, Kenneth S.; Riley, Brien P.

Fine scale mapping of the breast cancer 16q12 locus
pp. 2507-2515(9)
Authors: Udler, Miriam S.; Ahmed, Shahana; Healey, Catherine S.; Meyer, Kerstin; Struewing, Jeffrey; Maranian, Melanie; Kwon, Erika M.; Zhang, Jinghui; Tyrer, Jonathan; Karlins, Eric; Platte, Radka; Kalmyrzaev, Bolot; Dicks, Ed; Field, Helen; Maia, Ana-Teresa; Prathalingam, Radhika; Teschendorff, Andrew; McArthur, Stewart; Doody, David R.; Luben, Robert; Caldas, Carlos; Bernstein, Leslie; Kolonel, Laurence K.; Henderson, Brian E.; Wu, Anna H.; Le Marchand, Loic; Ursin, Giske; Press, Michael F.; Lindblom, Annika; Margolin, Sara; Shen, Chen-Yang; Yang, Show-Lin; Hsiung, Chia-Ni; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Malone, Kathleen E.; Haiman, Christopher A.; Pharoah, Paul D.; Ponder, Bruce A.J.; Ostrander, Elaine A.; Easton, Douglas F.; Dunning, Alison M.

The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl
pp. 2516-2523(8)
Authors: Takahashi, Meiko; Saenko, Vladimir A.; Rogounovitch, Tatiana I.; Kawaguchi, Takahisa; Drozd, Valentina M.; Takigawa-Imamura, Hisako; Akulevich, Natallia M.; Ratanajaraya, Chanavee; Mitsutake, Norisato; Takamura, Noboru; Danilova, Larisa I.; Lushchik, Maxim L.; Demidchik, Yuri E.; Heath, Simon; Yamada, Ryo; Lathrop, Mark; Matsuda, Fumihiko; Yamashita, Shunichi

A functional variant in the 3-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211
pp. 2524-2533(10)
Authors: Chen, Jingzhou; Yang, Tao; Yu, Hui; Sun, Kai; Shi, Yi; Song, Weihua; Bai, Yongyi; Wang, Xiaojian; Lou, Kejia; Song, Yan; Zhang, Yinhui; Hui, Rutai

In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
pp. 2534-2538(5)
Authors: Qu, Hui-Qi; Bradfield, Jonathan P.; Li, Quan; Kim, Cecilia; Frackelton, Edward; Grant, Struan F.A.; Hakonarson, Hakon; Polychronakos, Constantin