Human Molecular Genetics

Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size
pp. 4227-4238(12)
Authors: Leung, Karen N.; Vallero, Roxanne O.; DuBose, Amanda J.; Resnick, James L.; LaSalle, Janine M.

Knock-down of PQBP1 impairs anxiety-related cognition in mouse
pp. 4239-4254(16)
Authors: Ito, Hikaru; Yoshimura, Natsue; Kurosawa, Masaru; Ishii, Shunsuke; Nukina, Nobuyuki; Okazawa, Hitoshi

The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine BeckwithWiedemann region
pp. 4255-4267(13)
Authors: Lefebvre, Louis; Mar, Lynn; Bogutz, Aaron; Oh-McGinnis, Rosemary; Mandegar, Mohammad A.; Paderova, Jana; Gertsenstein, Marina; Squire, Jeremy A.; Nagy, Andras

Gp78, an ER associated E3, promotes SOD1 and ataxin-3 degradation
pp. 4268-4281(14)
Authors: Ying, Zheng; Wang, Hongfeng; Fan, Huadong; Zhu, Xiaodong; Zhou, Jiawei; Fei, Erkang; Wang, Guanghui

Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3
pp. 4282-4295(14)
Authors: Boy, Jana; Schmidt, Thorsten; Wolburg, Hartwig; Mack, Andreas; Nuber, Silke; Bttcher, Martin; Schmitt, Ina; Holzmann, Carsten; Zimmermann, Frank; Servadio, Antonio; Riess, Olaf

Expression quantitative trait loci detected in cell lines are often present in primary tissues
pp. 4296-4303(8)
Authors: Bullaughey, Kevin; Chavarria, Claudia I.; Coop, Graham; Gilad, Yoav

Stra13 regulates oxidative stress mediated skeletal muscle degeneration
pp. 4304-4316(13)
Authors: Vercherat, Ccile; Chung, Teng-Kai; Yalcin, Safak; Gulbagci, Neriman; Gopinadhan, Suma; Ghaffari, Saghi; Taneja, Reshma

Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release
pp. 4317-4328(12)
Authors: Berger, Alison K.; Cortese, Giuseppe P.; Amodeo, Katherine D.; Weihofen, Andreas; Letai, Anthony; LaVoie, Matthew J.

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
pp. 4329-4339(11)
Authors: Won, Jungyeon; Gifford, Elaine; Smith, Richard S.; Yi, Haiqing; Ferreira, Paulo A.; Hicks, Wanda L.; Li, Tiansen; Naggert, Jrgen K.; Nishina, Patsy M.

Pluripotency can be rapidly and efficiently induced in human amniotic fluid-derived cells
pp. 4340-4349(10)
Authors: Li, Chunliang; Zhou, Junmei; Shi, Guilai; Ma, Yu; Yang, Ying; Gu, Junjie; Yu, Hongyao; Jin, Shibo; Wei, Zhe; Chen, Fang; Jin, Ying

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation
pp. 4350-4356(7)
Authors: Paesold-Burda, Patricie; Maag, Charlotte; Troxler, Heinz; Foulquier, Franois; Kleinert, Peter; Schnabel, Siegrun; Baumgartner, Matthias; Hennet, Thierry

ALX4 dysfunction disrupts craniofacial and epidermal development
pp. 4357-4366(10)
Authors: Kayserili, Hulya; Uz, Elif; Niessen, Carien; Vargel, Ibrahim; Alanay, Yasemin; Tuncbilek, Gokhan; Yigit, Gokhan; Uyguner, Oya; Candan, Sukru; Okur, Hamza; Kaygin, Serkan; Balci, Sevim; Mavili, Emin; Alikasifoglu, Mehmet; Haase, Ingo; Wollnik, Bernd; Akarsu, Nurten Ayse

Mice defective in Trpm6 show embryonic mortality and neural tube defects
pp. 4367-4375(9)
Authors: Walder, Roxanne Y.; Yang, Baoli; Stokes, John B.; Kirby, Patricia A.; Cao, Xiao; Shi, Peijun; Searby, Charles C.; Husted, Russell F.; Sheffield, Val C.

Transplantation directs oocyte maturation from embryonic stem cells and provides a therapeutic strategy for female infertility
pp. 4376-4389(14)
Authors: Nicholas, Cory R.; Haston, Kelly M.; Grewall, Amarjeet K.; Longacre, Teri A.; Reijo Pera, Renee A.

Leucine-rich repeat kinase 2 interacts with Parkin, DJ-1 and PINK-1 in a Drosophila melanogaster model of Parkinson's disease
pp. 4390-4404(15)
Authors: Venderova, Katerina; Kabbach, Ghassan; Abdel-Messih, Elizabeth; Zhang, Yi; Parks, Robin J.; Imai, Yuzuru; Gehrke, Stephan; Ngsee, Johnny; LaVoie, Matthew J.; Slack, Ruth S.; Rao, Yong; Zhang, Zhuohua; Lu, Bingwei; Haque, M. Emdadul; Park, David S.

A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice
pp. 4405-4414(10)
Authors: Yin, HaiFang; Moulton, Hong M.; Betts, Corinne; Seow, Yiqi; Boutilier, Jordan; Iverson, Patrick L.; Wood, Matthew J.A.

Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits
pp. 4415-4427(13)
Authors: Jasinska, Anna J.; Service, Susan; Choi, Oi-wa; DeYoung, Joseph; Grujic, Olivera; Kong, Sit-yee; Jorgensen, Matthew J.; Bailey, Julia; Breidenthal, Sherry; Fairbanks, Lynn A.; Woods, Roger P.; Jentsch, J. David; Freimer, Nelson B.

Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1
pp. 4428-4441(14)
Authors: Zhou, Jing; Brugarolas, James; Parada, Luis F.

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
pp. 4442-4456(15)
Authors: Antoniou, Antonis C.; Sinilnikova, Olga M.; McGuffog, Lesley; Healey, Sue; Nevanlinna, Heli; Heikkinen, Tuomas; Simard, Jacques; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Neuhausen, Susan L.; Ding, Yuan C.; Couch, Fergus J.; Wang, Xianshu; Fredericksen, Zachary; Peterlongo, Paolo; Peissel, Bernard; Bonanni, Bernardo; Viel, Alessandra; Bernard, Loris; Radice, Paolo; Szabo, Csilla I.; Foretova, Lenka; Zikan, Michal; Claes, Kathleen; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Lejbkowicz, Flavio; Andrulis, Irene L.; Ozcelik, Hilmi; Glendon, Gord; Gerdes, Anne-Marie; Thomassen, Mads; Sunde, Lone; Caligo, Maria A.; Laitman, Yael; Kontorovich, Tair; Cohen, Shimrit; Kaufman, Bella; Dagan, Efrat; Baruch, Ruth Gershoni; Friedman, Eitan; Harbst, Katja; Barbany-Bustinza, Gisela; Rantala, Johanna; Ehrencrona, Hans; Karlsson, Per; Domchek, Susan M.; Nathanson, Katherine L.; Osorio, Ana; Blanco, Ignacio; Lasa, Adriana; Bentez, Javier; Hamann, Ute; Hogervorst, Frans B.L.; Rookus, Matti A.; Collee, J. Margriet; Devilee, Peter; Ligtenberg, Marjolijn J.; van der Luijt, Rob B.; Aalfs, Cora M.; Waisfisz, Quinten; Wijnen, Juul; van Roozendaal, Cornelis E.P.; Peock, Susan; Cook, Margaret; Frost, Debra; Oliver, Clare; Platte, Radka; Evans, D. Gareth; Lalloo, Fiona; Eeles, Rosalind; Izatt, Louise; Davidson, Rosemarie; Chu, Carol; Eccles, Diana; Cole, Trevor; Hodgson, Shirley; Godwin, Andrew K.; Stoppa-Lyonnet, Dominique; Buecher, Bruno; Lon, Mlanie; Bressac-de Paillerets, Brigitte; Remenieras, Audrey; Caron, Olivier; Lenoir, Gilbert M.; Sevenet, Nicolas; Longy, Michel; Ferrer, Sandra Fert; Prieur, Fabienne; Goldgar, David; Miron, Alexander; John, Esther M.; Buys, Saundra S.; Daly, Mary B.; Hopper, John L.; Terry, Mary Beth; Yassin, Yosuf; Gschwantler-Kaulich, Daphne

A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women
pp. 4457-4466(10)
Authors: Zuccolo, Luisa; Fitz-Simon, Nicola; Gray, Ron; Ring, Susan M.; Sayal, Kapil; Smith, George Davey; Lewis, Sarah J.