Allelic Interaction between <em>CRELD1</em> and <em>VEGFA</em> in the Pathogenesis of Cardiac Atrioventricular Septal Defects by Jennifer K. Redig, Gameil T. Fouad, Darcie Babcock, Benjamin Reshey, Eleanor Feingold, Roger H. Reeves, Cheryl L. Maslen

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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers by Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk

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Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis by Mervi Kuronen, Minnamari Talvitie, Anna-Elina Lehesjoki, Liisa Myllykangas

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APOL1 Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant by Rasheed Gbadegesin, Elena Martinelli, Yask Gupta, David J. Friedman, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi

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Genetic influences on cystic fibrosis lung disease severity by Mitchell L Drumm, Mitchell L Drumm, Colleen A Weiler

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The BALB/c.mdx62 mouse exhibits a dystrophic muscle pathology and is a model of Duchenne muscular dystrophy by Kristy Swiderski, Audrey S. Chan, Marco J. Herold, Andrew J. Kueh, Jin D. Chung, Justin P. Hardee, Jennifer Trieu, Annabel Chee, Timur Naim, Paul Gregorevic, Gordon S. Lynch

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Balancing WNT signalling in early forebrain development: The role of LRP4 as a modulator of LRP6 function by Shuang Geng, Shuang Geng, Fabian Paul, Fabian Paul, Izabela Kowalczyk, Izabela Kowalczyk, Sandra Raimundo, Anje Sporbert, Tamrat Meshka Mamo, Annette Hammes

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy by Xuan Jiang, Yanqiu Shao, Faris G. Araj, Alpesh A. Amin, Benjamin M. Greenberg, Mark H. Drazner, Chao Xing, Pradeep P. A. Mammen

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Genetics Modulate Gray Matter Variation Beyond Disease Burden in Prodromal Huntington’s Disease by Jingyu Liu, Jingyu Liu, Jennifer Ciarochi, Jennifer Ciarochi, Vince D. Calhoun, Vince D. Calhoun, Jane S. Paulsen, Jane S. Paulsen, Jane S. Paulsen, H. Jeremy Bockholt, H. Jeremy Bockholt, H. Jeremy Bockholt, Hans J. Johnson, Hans J. Johnson, Jeffrey D. Long, Jeffrey D. Long, Dongdong Lin, Flor A. Espinoza, Maria B. Misiura, Maria B. Misiura, Arvind Caprihan, Jessica A. Turner, Jessica A. Turner, Jessica A. Turner, PREDICT-HD Investigators and Coordinators of the Huntington Study Group

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Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks by A. Muinos-Bühl, R. Rombo, E. Janzen, K.K. Ling, K. Hupperich, F. Rigo, C.F. Bennett, B. Wirth

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Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in Hereditary Hemorrhagic Tel... by Rosemary J Akhurst

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New insights into the pathogenesis of Pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers by Doris eHendig, Cornelius eKnabbe, Christian eGötting

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Genetic mapping of novel modifiers for Apc Min induced intestinal polyps’ development using the genetic architecture power of the collaborative cross mice by Alexandra Dorman, Ilona Binenbaum, Hanifa J. Abu-Toamih Atamni, Aristotelis Chatziioannou, Ian Tomlinson, Richard Mott, Fuad A. Iraqi

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One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families by Yongzhi Xie, Zhiqiang Lin, Xiaobo Li, Lei Liu, Shunxiang Huang, Huadong Zhao, Binghao Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang

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Shedding new light on circadian clocks by Maud Demarque, Ueli Schibler

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Usf1, a suppressor of the circadian Clock mutant, reveals the nature of the DNA-binding of the CLOCK:BMAL1 complex in mice by Kazuhiro Shimomura, Vivek Kumar, Nobuya Koike, Tae-Kyung Kim, Jason Chong, Ethan D Buhr, Andrew R Whiteley, Sharon S Low, Chiaki Omura, Deborah Fenner, Joseph R Owens, Marc Richards, Seung-Hee Yoo, Hee-Kyung Hong, Martha H Vitaterna, Joseph Bass, Mathew T Pletcher, Tim Wiltshire, John Hogenesch, Phillip L Lowrey, Joseph S Takahashi

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A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy by Iori Ohmori, Mamoru Ouchida, Takafumi Miki, Nobuyoshi Mimaki, Shigeki Kiyonaka, Teiichi Nishiki, Kazuhito Tomizawa, Yasuo Mori, Hideki Matsui

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Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain by Jeremy M. Van Raamsdonk, Martina Metzler, Elizabeth Slow, Jacqueline Pearson, Claudia Schwab, Jeffrey Carroll, Rona K. Graham, Blair R. Leavitt, Michael R. Hayden

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Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington’s disease by Shotaro Kishikawa, Jian-Liang Li, Tammy Gillis, Michael M. Hakky, Simon Warby, Michael Hayden, Marcy E. MacDonald, Richard H. Myers, James F. Gusella

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Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity by Benjamin J. Landis, Dongbing Lai, Dong-Chuan Guo, Joel S. Corvera, Muhammad T. Idrees, Henry W. Stadler, Christian Cuevas, Gavin U. Needler, Courtney E. Vujakovich, Dianna M. Milewicz, Robert B. Hinton, Stephanie M. Ware

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