Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 12

Results: 24

Lack of exacerbation of neurodegeneration in a double transgenic mouse model of mutant LRRK2 and tau.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3545, doi. 10.1093/hmg/ddv105

By:

Mikhail, Fadi;
Calingasan, Noel;
Parolari, Luca;
Subramanian, Aarthi;
Lichuan Yang;
Beal, M. Flint

Publication type:

Article

Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3529, doi. 10.1093/hmg/ddv104

By:

Finelli, Mattéa J.;
Liu, Kevin X.;
Yixing Wu;
Oliver, Peter L.;
Davies, Kay E.

Publication type:

Article

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3518, doi. 10.1093/hmg/ddv103

By:

Anastasaki, Corina;
Woo, Albert S.;
Messiaen, Ludwine M.;
Gutmann, David H.

Publication type:

Article

FGFR2 regulates Mre11 expression and double-strand break repair via the MEK-ERK-POU1F1 pathway in breast tumorigenesis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3506, doi. 10.1093/hmg/ddv102

By:

Yuan-Ling Huang;
Wen-Cheng Chou;
Chia-Ni Hsiung;
Ling-Yueh Hu;
Hou-Wei Chu;
Chen-Yang Shen

Publication type:

Article

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3497, doi. 10.1093/hmg/ddv100

By:

Velho, Renata Voltolini;
De Pace, Raffaella;
Klünder, Sarah;
Sperb-Ludwig, Fernanda;
Marques Lourenço, Charles;
Schwartz, Ida V. D.;
Braulke, Thomas;
Pohl, Sandra

Publication type:

Article

Neuronal identity genes regulated by super-enhancers are preferentially down-regulated in the striatum of Huntington's disease mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3481, doi. 10.1093/hmg/ddv099

By:

Achour, Mayada;
Le Gras, Stéphanie;
Keime, Céline;
Parmentier, Frédéric;
Lejeune, François-Xavier;
Boutillier, Anne-Laurence;
Néri, Christian;
Davidson, Irwin;
Merienne, Karine

Publication type:

Article

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3582, doi. 10.1093/hmg/ddv097

By:

Nead, Kevin T.;
Aihua Li;
Wehner, Mackenzie R.;
Neupane, Binod;
Gustafsson, Stefan;
Butterworth, Adam;
Engert, James C.;
Davis, A. Darlene;
Hegele, Robert A.;
Miller, Ruby;
den Hoed, Marcel;
Kay-Tee Khaw;
Kilpeläinen, Tuomas O.;
Wareham, Nick;
Edwards, Todd L.;
Hallmans, Göran;
Varga, Tibor V.;
Kardia, Sharon L. R.;
Smith, Jennifer A.;
Wei Zhao

Publication type:

Article

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3472, doi. 10.1093/hmg/ddv098

By:

Carpenter, Danielle;
Dhar, Sugandha;
Mitchell, Laura M.;
Beiyuan Fu;
Tyson, Jess;
Shwan, Nzar A. A.;
Fengtang Yang;
Thomas, Mark G.;
Armour, John A. L.

Publication type:

Article

IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3571, doi. 10.1093/hmg/ddv095

By:

Berggren, Olof;
Alexsson, Andrei;
Morris, David L.;
Tandre, Karolina;
Weber, Gert;
Vyse, Timothy J.;
Syvänen, Ann-Christine;
Rönnblom, Lars;
Eloranta, Maija-Leena

Publication type:

Article

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3457, doi. 10.1093/hmg/ddv096

By:

Silva, Ana M.;
Brown, Jill M.;
Buckle, Veronica J.;
Wade-Martins, Richard;
Lufino, Michele M. P.

Publication type:

Article

Tweak regulates astrogliosis, microgliosis and skeletal muscle atrophy in a mouse model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3440, doi. 10.1093/hmg/ddv094

By:

Bowerman, Melissa;
Salsac, Céline;
Coque, Emmanuelle;
Eiselt, Émilie;
Deschaumes, Roman G.;
Brodovitch, Alexandre;
Burkly, Linda C.;
Scamps, Frédérique;
Raoul, Cédric

Publication type:

Article

Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3557, doi. 10.1093/hmg/ddv092

By:

Malik, Manasi;
Chiles III, Joe;
Hualin S. Xi;
Medway, Christopher;
Simpson, James;
Potluri, Shobha;
Howard, Dianna;
Ying Liang;
Paumi, Christian M.;
Mukherjee, Shubhabrata;
Crane, Paul;
Younkin, Steven;
Fardo, David W.;
Estus, Steven

Publication type:

Article

A cysteine residue affects the conformational state and neuronal toxicity of mutant SOD1 in mice: relevance to the pathogenesis of ALS.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3427, doi. 10.1093/hmg/ddv093

By:

Seiichi Nagano;
Yoko Takahashi;
Kazuhiro Yamamoto;
Hiroshi Masutani;
Noriko Fujiwara;
Makoto Urushitani;
Toshiyuki Araki

Publication type:

Article

Genome-wide profiling of polyadenylation sites reveals a link between selective polyadenylation and cancer metastasis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3410, doi. 10.1093/hmg/ddv089

By:

Deng-Pan Lai;
Sheng Tan;
Ya-Ni Kang;
Jun Wu;
Hong-Sain Ooi;
Jian Chen;
Ting-Ting Shen;
Ying Qi;
Xiaoli Zhang;
Yan Guo;
Tao Zhu;
Bingya Liu;
Zhifeng Shao;
Xiaodong Zhao

Publication type:

Article

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3418, doi. 10.1093/hmg/ddv090

By:

Dusl, Marina;
Senderek, Jan;
Müller, Juliane S.;
Vogel, Johannes G.;
Pertl, Anja;
Stucka, Rolf;
Lochmüller, Hanns;
David, Robert;
Abicht, Angela

Publication type:

Article

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3399, doi. 10.1093/hmg/ddv088

By:

Saal, Howard M.;
Prows, Cynthia A.;
Guerreiro, Iris;
Donlin, Milene;
Knudson, Luke;
Sund, Kristen L.;
Ching-Fang Chang;
Brugmann, Samantha A.;
Stottmann, Rolf W.

Publication type:

Article

Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3390, doi. 10.1093/hmg/ddv087

By:

Goorden, Susanna M. I.;
Abs, Elisabeth;
Bruinsma, Caroline F.;
Riemslagh, Fréderike W.;
van Woerden, Geeske M.;
Elgersma, Ype

Publication type:

Article

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3372, doi. 10.1093/hmg/ddv086

By:

Ricca, Alessandra;
Rufo, Nicole;
Ungari, Silvia;
Morena, Francesco;
Martino, Sabata;
Kulik, Wilem;
Alberizzi, Valeria;
Bolino, Alessandra;
Bianchi, Francesca;
Carro, Ubaldo Del;
Biffi, Alessandra;
Gritti, Angela

Publication type:

Article

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3359, doi. 10.1093/hmg/ddv085

By:

Di Gioia, Silvio Alessandro;
Farinelli, Pietro;
Letteboer, Stef J. F.;
Arsenijevic, Yvan;
Sharon, Dror;
Roepman, Ronald;
Rivolta, Carlo

Publication type:

Article

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3348, doi. 10.1093/hmg/ddv084

By:

Racca, Alice W.;
Beck, Anita E.;
McMillin, Margaret J.;
Korte, F. Steven;
Bamshad, Michael J.;
Regnier, Michael

Publication type:

Article

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3335, doi. 10.1093/hmg/ddv083

By:

Jolly, Lachlan A.;
Lam Son Nguyen;
Domingo, Deepti;
Ying Sun;
Barry, Simon;
Hancarova, Miroslava;
Plevova, Pavlina;
Vlckova, Marketa;
Havlovicova, Marketa;
Kalscheuer, Vera M.;
Graziano, Claudio;
Pippucci, Tommaso;
Bonora, Elena;
Sedlacek, Zdenek;
Gecz, Jozef

Publication type:

Article

Mutated myocilin and heterozygous Sod2 deficiency act synergistically in a mouse model of open-angle glaucoma.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3322, doi. 10.1093/hmg/ddv082

By:

Myung Kuk Joe;
Naoki Nakaya;
Abu-Asab, Mones;
Tomarev, Stanislav I.

Publication type:

Article

Germline correction of an epimutation related to Silver-Russell syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3314, doi. 10.1093/hmg/ddv079

By:

Bruno, Céline;
Carmignac, Virginie;
Netchine, Irène;
Choux, Cécile;
Duffourd, Yannis;
Faivre, Laurence;
Thauvin-Robinet, Christel;
Le Bouc, Yves;
Sagot, Paul;
Bourc'his, Déborah;
Fauque, Patricia

Publication type:

Article

Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 12, p. 3305, doi. 10.1093/hmg/ddv077

By:

Hui Guo;
Fortune, Mary D.;
Burren, Oliver S.;
Schofield, Ellen;
Todd, John A.;
Wallace, Chris

Publication type:

Article