Human Molecular Genetics

Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43
pp. 3353-3364(12)
Authors: Nonaka, Takashi; Kametani, Fuyuki; Arai, Tetsuaki; Akiyama, Haruhiko; Hasegawa, Masato

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder
pp. 3365-3374(10)
Authors: Janssen, Rolf J.R.J.; Distelmaier, Felix; Smeets, Roel; Wijnhoven, Tessa; stergaard, Elsebet; Jaspers, Nicolaas G.J.; Raams, Anja; Kemp, Stephan; Rodenburg, Richard J.T.; Willems, Peter H.M.G.; van den Heuvel, Lambert P.W.J.; Smeitink, Jan A.M.; Nijtmans, Leo G.J.

Histone methylation is mechanistically linked to DNA methylation at imprinting control regions in mammals
pp. 3375-3383(9)
Authors: Henckel, Amandine; Nakabayashi, Kazuhiko; Sanz, Lionel A.; Feil, Robert; Hata, Kenichiro; Arnaud, Philippe

Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation
pp. 3384-3396(13)
Authors: Suraweera, Amila; Lim, YiChieh; Woods, Rick; Birrell, Geoff W.; Nasim, Talat; Becherel, Olivier J.; Lavin, Martin F.

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells
pp. 3397-3406(10)
Authors: Kurahashi, Hiroki; Inagaki, Hidehito; Kato, Takema; Hosoba, Eriko; Kogo, Hiroshi; Ohye, Tamae; Tsutsumi, Makiko; Bolor, Hasbaira; Tong, Maoqing; Emanuel, Beverly S.

Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA
pp. 3407-3416(10)
Authors: Malena, Adriana; Loro, Emanuele; Di Re, Miriam; Holt, Ian J.; Vergani, Lodovica

Loss of Bloom syndrome protein destabilizes human gene cluster architecture
pp. 3417-3428(12)
Authors: Killen, Michael W.; Stults, Dawn M.; Adachi, Noritaka; Hanakahi, Les; Pierce, Andrew J.

A cell-autonomous role for WT1 in regulating Sry in vivo
pp. 3429-3438(10)
Authors: Bradford, Stephen T.; Wilhelm, Dagmar; Bandiera, Roberto; Vidal, Valerie; Schedl, Andreas; Koopman, Peter

Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contributes to defects in glycolysis and increased fatigability in muscular dystrophy
pp. 3439-3451(13)
Authors: Wehling-Henricks, Michelle; Oltmann, Meredith; Rinaldi, Chiara; Myung, Kyu H.; Tidball, James G.

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity
pp. 3452-3461(10)
Authors: Tortajada, Agustn; Montes, Tamara; Mart´nez-Barricarte, Rubn; Morgan, B. Paul; Harris, Claire L.; de Crdoba, Santiago Rodrguez

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
pp. 3462-3469(8)
Authors: Attali, Ruben; Warwar, Nasim; Israel, Ariel; Gurt, Irina; McNally, Elizabeth; Puckelwartz, Megan; Glick, Benjamin; Nevo, Yoram; Ben-Neriah, Ziva; Melki, Judith

Direct and indirect roles of RECQL4 in modulating base excision repair capacity
pp. 3470-3483(14)
Authors: Schurman, Shepherd H.; Hedayati, Mohammad; Wang, ZhengMing; Singh, Dharmendra K.; Speina, Elzbieta; Zhang, Yongqing; Becker, Kevin; Macris, Margaret; Sung, Patrick; Wilson, David M.; Croteau, Deborah L.; Bohr, Vilhelm A.

Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M
pp. 3484-3495(12)
Authors: Bakker, Sietske T.; van de Vrugt, Henri J.; Rooimans, Martin A.; Oostra, Anneke B.; Steltenpool, Jurgen; Delzenne-Goette, Elly; van der Wal, Anja; van der Valk, Martin; Joenje, Hans; te Riele, Hein; de Winter, Johan P.

Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study
pp. 3496-3501(6)
Authors: Kilpelinen, Tuomas O.; Bingham, Sheila A.; Khaw, Kay-Tee; Wareham, Nicholas J.; Loos, Ruth J.F.

Common body mass index-associated variants confer risk of extreme obesity
pp. 3502-3507(6)
Authors: Cotsapas, Chris; Speliotes, Elizabeth K.; Hatoum, Ida J.; Greenawalt, Danielle M.; Dobrin, Radu; Lum, Pek Y.; Suver, Christine; Chudin, Eugene; Kemp, Daniel; Reitman, Marc; Voight, Benjamin F.; Neale, Benjamin M.; Schadt, Eric E.; Hirschhorn, Joel N.; Kaplan, Lee M.; Daly, Mark J.

Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population
pp. 3508-3515(8)
Authors: Qi, Qibin; Li, Huaixing; Loos, Ruth J.F.; Liu, Chen; Wu, Ying; Hu, Frank B.; Wu, Hongyu; Lu, Ling; Yu, Zhijie; Lin, Xu

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation
pp. 3516-3524(9)
Authors: Estrada, Karol; Krawczak, Michael; Schreiber, Stefan; van Duijn, Kate; Stolk, Lisette; van Meurs, Joyce B.J.; Liu, Fan; Penninx, Brenda W.J.H.; Smit, Jan H.; Vogelzangs, Nicole; Hottenga, Jouke Jan; Willemsen, Gonneke; de Geus, Eco J.C.; Lorentzon, Mattias; von Eller-Eberstein, Huberta; Lips, Paul; Schoor, Natascha; Pop, Victor; de Keijzer, Jules; Hofman, Albert; Aulchenko, Yurii S.; Oostra, Ben A.; Ohlsson, Claes; Boomsma, Dorret I.; Uitterlinden, Andre G.; van Duijn, Cornelia M.; Rivadeneira, Fernando; Kayser, Manfred

Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk
pp. 3525-3531(7)
Authors: Evans, David M.; Visscher, Peter M.; Wray, Naomi R.