Human Molecular Genetics

NMNAT suppresses Tau-induced neurodegeneration by promoting clearance of hyperphosphorylated Tau oligomers in a Drosophila model of tauopathy
pp. 237-250(14)
Authors: Ali, Yousuf O.; Ruan, Kai; Zhai, R. Grace

CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy
pp. 251-267(17)
Authors: Ljungberg, M. Cecilia; Ali, Yousuf O.; Zhu, Jie; Wu, Chia-Shan; Oka, Kazuhiro; Zhai, R. Grace; Lu, Hui-Chen

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits
pp. 268-286(19)
Authors: Ramakers, Ger J.A.; Wolfer, David; Rosenberger, Georg; Kuchenbecker, Kerstin; Kreienkamp, Hans-Jürgen; Prange-Kiel, Janine; Rune, Gabriele; Richter, Karin; Langnaese, Kristina; Masneuf, Sophie; Bösl, Michael R.; Fischer, Klaus-Dieter; Krugers, Harm J.; Lipp, Hans-Peter; van Galen, Elly; Kutsche, Kerstin

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology
pp. 287-299(13)
Authors: Engl, Gertraud; Florian, Stefan; Tranebjærg, Lisbeth; Rapaport, Doron

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53
pp. 300-310(11)
Authors: Ni, Ying; He, Xin; Chen, Jinlian; Moline, Jessica; Mester, Jessica; Orloff, Mohammed S.; Ringel, Matthew D.; Eng, Charis

Deregulation of the A-to-I RNA editing mechanism in psychiatric disorders
pp. 311-321(11)
Authors: Silberberg, Gilad; Lundin, Daniel; Navon, Ruth; Öhman, Marie

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene
pp. 322-333(12)
Authors: Davison, Lucy J.; Wallace, Chris; Cooper, Jason D.; Cope, Nathan F.; Wilson, Nicola K.; Smyth, Deborah J.; Howson, Joanna M.M.; Saleh, Nada; Al-Jeffery, Abdullah; Angus, Karen L.; Stevens, Helen E.; Nutland, Sarah; Duley, Simon; Coulson, Richard M.R.; Walker, Neil M.; Burren, Oliver S.; Rice, Catherine M.; Cambien, Francois; Zeller, Tanja; Munzel, Thomas; Lackner, Karl; Blankenberg, Stefan; Fraser, Peter; Gottgens, Berthold; Todd, John A.

E-cadherin impairment increases cell survival through Notch-dependent upregulation of Bcl-2
pp. 334-343(10)
Authors: Ferreira, António Carlos; Suriano, Gianpaolo; Mendes, Nuno; Gomes, Bárbara; Wen, Xiaogang; Carneiro, Fátima; Seruca, Raquel; Machado, José Carlos

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology
pp. 344-357(14)
Authors: Berkel, Simone; Tang, Wannan; Treviño, Mario; Vogt, Miriam; Obenhaus, Horst Andreas; Gass, Peter; Scherer, Stephen Wayne; Sprengel, Rolf; Schratt, Gerhard; Rappold, Gudrun Anna

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
pp. 358-370(13)
Authors: Weterman, Marian A.J.; Sorrentino, Vincenzo; Kasher, Paul R.; Jakobs, Marja E.; van Engelen, Baziel G.M.; Fluiter, Kees; de Wissel, Marit B.; Sizarov, Aleksander; Nürnberg, Gudrun; Nürnberg, Peter; Zelcer, Noam; Schelhaas, H. Jurgen; Baas, Frank

Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood
pp. 371-383(13)
Authors: Toperoff, Gidon; Aran, Dvir; Kark, Jeremy D.; Rosenberg, Michael; Dubnikov, Tatyana; Nissan, Batel; Wainstein, Julio; Friedlander, Yechiel; Levy-Lahad, Ephrat; Glaser, Benjamin; Hellman, Asaf

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis
pp. 384-393(10)
Authors: Jun, Albert S.; Meng, Huan; Ramanan, Naren; Matthaei, Mario; Chakravarti, Shukti; Bonshek, Richard; Black, Graeme C.M.; Grebe, Rhonda; Kimos, Martha

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model
pp. 394-405(12)
Authors: Chen, Yi Chun; Gatchel, Jennifer R.; Lewis, Rebecca W.; Mao, Chai-An; Grant, Patrick A.; Zoghbi, Huda Y.; Dent, Sharon Y.R.

Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease
pp. 406-420(15)
Authors: Shirendeb, Ulziibat P.; Calkins, Marcus J.; Manczak, Maria; Anekonda, Vishwanath; Dufour, Brett; McBride, Jodi L.; Mao, Peizhong; Reddy, P. Hemachandra

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries
pp. 421-429(9)
Authors: Li, Xiaohui; Bykhovskaya, Yelena; Haritunians, Talin; Siscovick, David; Aldave, Anthony; Szczotka-Flynn, Loretta; Iyengar, Sudha K.; Rotter, Jerome I.; Taylor, Kent D.; Rabinowitz, Yaron S.

Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF)
pp. 430-436(7)
Authors: Qin, Yingying; Zhao, Han; Xu, Jianfeng; Shi, Yongyong; Li, Zhiqiang; Qiao, Jie; Liu, Jiayin; Qin, Chunrong; Ren, Chune; Li, Jie; Chen, Shiling; Cao, Yunxia; Simpson, Joe Leigh; Chen, Zi-Jiang

Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations
pp. 437-445(9)
Authors: Cornes, Belinda K.; Khor, Chiea Chuen; Nongpiur, Monisha E.; Xu, Liang; Tay, Wan-Ting; Zheng, Yingfeng; Lavanya, Raghavan; Li, Yang; Wu, Renyi; Sim, Xueling; Wang, Ya-Xing; Chen, Peng; Teo, Yik Ying; Chia, Kee-Seng; Seielstad, Mark; Liu, Jianjun; Hibberd, Martin L.; Cheng, Ching-Yu; Saw, Seang-Mei; Tai, E-Shyong; Jonas, Jost B.; Vithana, Eranga N.; Wong, Tien Y.; Aung, Tin

Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations
pp. 446-455(10)
Authors: Middelberg, Rita P.; Benyamin, Beben; de Moor, Marleen H.M.; Warrington, Nicole M.; Gordon, Scott; Henders, Anjali K.; Medland, Sarah E.; Nyholt, Dale R.; de Geus, Eco J.C.; Hottenga, Jouke J.; Willemsen, Gonneke; Beilin, Lawrence J.; Mori, Trevor A.; Wright, Margaret J.; Heath, Andrew C.; Madden, Pamela A.F.; Boomsma, Dorret I.; Pennell, Craig E.; Montgomery, Grant W.; Martin, Nicholas G.; Whitfield, John B.

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23
pp. 456-462(7)
Authors: Wu, Xifeng; Scelo, Ghislaine; Purdue, Mark P.; Rothman, Nathaniel; Johansson, Mattias; Ye, Yuanqing; Wang, Zhaoming; Zelenika, Diana; Moore, Lee E.; Wood, Christopher G.; Prokhortchouk, Egor; Gaborieau, Valerie; Jacobs, Kevin B.; Chow, Wong-Ho; Toro, Jorge R.; Zaridze, David; Lin, Jie; Lubinski, Jan; Trubicka, Joanna; Szeszenia-Dabrowska, Neonilia; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Mates, Dana; Jinga, Viorel; Bencko, Vladimir; Slamova, Alena; Holcatova, Ivana; Navratilova, Marie; Janout, Vladimir; Boffetta, Paolo; Colt, Joanne S.; Davis, Faith G.; Schwartz, Kendra L.; Banks, Rosamonde E.; Selby, Peter J.; Harnden, Patricia; Berg, Christine D.; Hsing, Ann W.; Grubb, Robert L.; Boeing, Heiner; Vineis, Paolo; Clavel-Chapelon, Françoise; Palli, Domenico; Tumino, Rosario; Krogh, Vittorio; Panico, Salvatore; Duell, Eric J.; Quirós, José Ramón; Sanchez, Maria-José; Navarro, Carmen; Ardanaz, Eva; Dorronsoro, Miren; Khaw, Kay-Tee; Allen, Naomi E.; Bueno-de-Mesquita, H. Bas; Peeters, Petra H.M.; Trichopoulos, Dimitrios; Linseisen, Jakob; Ljungberg, Börje; Overvad, Kim; Tjønneland, Anne; Romieu, Isabelle; Riboli, Elio; Stevens, Victoria L; Thun, Michael J; Diver, W. Ryan; Gapstur, Susan M.; Pharoah, Paul D.; Easton, Douglas F.; Albanes, Demetrius; Virtamo, Jarmo; Vatten, Lars; Hveem, Kristian; Fletcher, Tony; Koppova, Kvetoslava; Cussenot, Olivier; Cancel-Tassin, Geraldine; Benhamou, Simone; Hildebrandt, Michelle A.; Pu, Xia; Foglio, Mario; Lechner, Doris; Hutchinson, Amy; Yeager, Meredith; Fraumeni, Joseph F.; Lathrop, Mark; Skryabin, Konstantin G.; McKay, James D.; Gu, Jian; Brennan, Paul; Chanock, Stephen J.

Population-specific coding variant underlies genome-wide association with adiponectin level
pp. 463-471(9)
Authors: Croteau-Chonka, Damien C.; Wu, Ying; Li, Yun; Fogarty, Marie P.; Lange, Leslie A.; Kuzawa, Christopher W.; McDade, Thomas W.; Borja, Judith B.; Luo, Jingchun; AbdelBaky, Omar; Combs, Terry P.; Adair, Linda S.; Lange, Ethan M.; Mohlke, Karen L.