Works in Human Molecular Genetics, 2015, Vol 24, Issue 14

Results: 25

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4061, doi. 10.1093/hmg/ddv146

By:

Shen Gu;
Bo Yuan;
Campbell, Ian M.;
Beck, Christine R.;
Carvalho, Claudia M. B.;
Nagamani, Sandesh C. S.;
Erez, Ayelet;
Patel, Ankita;
Bacino, Carlos A.;
Shaw, Chad A.;
Stankiewicz, Paweł;
Sau Wai Cheung;
Weimin Bi;
Lupski, James R.

Publication type:

Article

Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3982, doi. 10.1093/hmg/ddv136

By:

Xia Zhou;
Fan, Lucy X.;
Peters, Dorien J. M.;
Trudel, Marie;
Bradner, James E.;
Xiaogang Li

Publication type:

Article

A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3956, doi. 10.1093/hmg/ddv134

By:

Zhijian Wu;
Suja Hiriyanna;
Haohua Qian;
Mookherjee, Suddhasil;
Campos, Maria M.;
Chun Gao;
Fariss, Robert;
Sieving, Paul A.;
Tiansen Li;
Colosi, Peter;
Swaroop, Anand

Publication type:

Article

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4024, doi. 10.1093/hmg/ddv139

By:

Chi-Ting Su;
Jenq-Wen Huang;
Chih-Kang Chiang;
Lawrence, Elizabeth C.;
Levine, Kara L.;
Dabovic, Branka;
Jung, Christine;
Davis, Elaine C.;
Madan-Khetarpal, Suneeta;
Urban, Zsolt

Publication type:

Article

Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4167, doi. 10.1093/hmg/ddv145

By:

Spiliopoulou, Athina;
Nagy, Reka;
Bermingham, Mairead L.;
Huffman, Jennifer E.;
Hayward, Caroline;
Vitart, Veronique;
Rudan, Igor;
Campbell, Harry;
Wright, Alan F.;
Wilson, James F.;
Pong-Wong, Ricardo;
Agakov, Felix;
Navarro, Pau;
Haley, Chris S.

Publication type:

Article

Astrocytes influence the severity of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4094, doi. 10.1093/hmg/ddv148

By:

Rindt, Hansjörg;
Zhihua Feng;
Mazzasette, Chiara;
Glascock, Jacqueline J.;
Valdivia, David;
Pyles, Noah;
Crawford, Thomas O.;
Swoboda, Kathryn J.;
Patitucci, Teresa N.;
Ebert, Allison D.;
Sumner, Charlotte J.;
Ko, Chien-Ping;
Lorson, Christian L.

Publication type:

Article

Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3918, doi. 10.1093/hmg/ddv122

By:

Posey, Karen L.;
Coustry, Francoise;
Veerisetty, Alka C.;
Hossain, Mohammad;
Alcorn, Joseph L.;
Hecht, Jacqueline T.

Publication type:

Article

Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4049, doi. 10.1093/hmg/ddv141

By:

Philippi, Susanne;
Lorain, Stéphanie;
Beley, Cyriaque;
Peccate, Cécile;
Précigout, Guillaume;
Spuler, Simone;
Garcia, Luis

Publication type:

Article

Improved integrative framework combining association data with gene expression features to prioritize Crohn's disease genes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4147, doi. 10.1093/hmg/ddv142

By:

Ning, Kaida;
Gettler, Kyle;
Wei Zhang;
Sok Meng Ng;
Bowen, B. Monica;
Hyams, Jeffrey;
Stephens, Michael C.;
Kugathasan, Subra;
Denson, Lee A.;
Schadt, Eric E.;
Hoffman, Gabriel E.;
Cho, Judy H.

Publication type:

Article

The pro-domains of neurotrophins, including BDNF, are linked to Alzheimer's disease through a toxic synergy with Aβ.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3929, doi. 10.1093/hmg/ddv130

By:

Jung Yeon Lim;
Reighard, Charles P.;
Crowther, Damian C.

Publication type:

Article

A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3895, doi. 10.1093/hmg/ddv047

By:

Lidral, Andrew C.;
Huan Liu;
Bullard, Steven A.;
Bonde, Greg;
Machida, Junichiro;
Visel, Axel;
Moreno Uribe, Lina M.;
Xiao Li;
Amendt, Brad;
Cornell, Robert A.

Publication type:

Article

Two newloci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4138, doi. 10.1093/hmg/ddv129

By:

Kristiansen, Wenche;
Karlsson, Robert;
Rounge, Trine B.;
Whitington, Thomas;
Andreassen, Bettina K.;
Magnusson, Patrik K.;
Fosså, Sophie D.;
Adami, Hans-Olov;
Turnbull, Clare;
Haugen, Trine B.;
Grotmol, Tom;
Wiklund, Fredrik

Publication type:

Article

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4006, doi. 10.1093/hmg/ddv138

By:

Kozol, Robert A.;
Cukier, Holly N.;
Bing Zou;
Mayo, Vera;
De Rubeis, Silvia;
Cai, Guiqing;
Griswold, Anthony J.;
Whitehead, Patrice L.;
Haines, Jonathan L.;
Gilbert, John R.;
Cuccaro, Michael L.;
Martin, Eden R.;
Baker, James D.;
Buxbaum, Joseph D.;
Pericak-Vance, Margaret A.;
Dallman, Julia E.

Publication type:

Article

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149

By:

Hinttala, Reetta;
Sasarman, Florin;
Nishimura, Tamiko;
Antonicka, Hana;
Brunel-Guitton, Catherine;
Schwartzentruber, Jeremy;
Fahiminiya, Somayyeh;
Majewski, Jacek;
Faubert, Denis;
Ostergaard, Elsebet;
Smeitink, Jan A.;
Shoubridge, Eric A.

Publication type:

Article

Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3908, doi. 10.1093/hmg/ddv121

By:

Guyenet, Stephan J.;
Mookerjee, Shona S.;
Lin, Amy;
Custer, Sara K.;
Chen, Sylvia F.;
Sopher, Bryce L.;
La Spada, Albert R.;
Ellerby, Lisa M.

Publication type:

Article

The active Hsc70/tau complex can be exploited to enhance tau turnover without damaging microtubule dynamics.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3971, doi. 10.1093/hmg/ddv135

By:

Fontaine, Sarah N.;
Martin, Mackenzie D.;
Akoury, Elias;
Assimon, Victoria A.;
Borysov, Sergiy;
Nordhues, Bryce A.;
Sabbagh, Jonathan J.;
Cockman, Matt;
Gestwicki, Jason E.;
Zweckstetter, Markus;
Dickey, Chad A.

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 14, p. 4183, doi. 10.1093/hmg/ddv164
Publication type:: Article

Dystrophin Dp71 gene deletion induces retinal vascular inflammation and capillary degeneration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3939, doi. 10.1093/hmg/ddv132

By:

El Mathari, Brahim;
Sene, Abdoulaye;
Charles-Messance, Hugo;
Vacca, Ophélie;
Guillonneau, Xavier;
Grepin, Claudine;
Sennlaub, Florian;
Sahel, José-Alain;
Rendon, Alvaro;
Tadayoni, Ramin

Publication type:

Article

The mutant Moonwalker TRPC3 channel links calcium signaling to lipid metabolism in the developing cerebellum.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4114, doi. 10.1093/hmg/ddv150

By:

Dulneva, Anna;
Lee, Sheena;
Oliver, Peter L.;
Di Gleria, Katalin;
Kessler, Benedikt M.;
Davies, Kay E.;
Becker, Esther B. E.

Publication type:

Article

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152

By:

Caparrós-Martín, José A.;
De Luca, Alessandro;
Cartault, François;
Aglan, Mona;
Temtamy, Samia;
Otaify, Ghada A.;
Mehrez, Mennat;
Valencia, María;
Vázquez, Laura;
Alessandri, Jean-Luc;
Nevado, Julián;
Rueda-Arenas, Inmaculada;
Heath, Karen E.;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Goodship, Judith A.;
Mill, Pleasantine;
Lapunzina, Pablo;
Ruiz-Perez, Victor L.

Publication type:

Article

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4037, doi. 10.1093/hmg/ddv140

By:

Avila-Fernandez, Almudena;
Perez-Carro, Raquel;
Corton, Marta;
Lopez-Molina, Maria Isabel;
Campello, Laura;
Garanto, Alejandro;
Fernandez-Sanchez, Laura;
Duijkers, Lonneke;
Martinez, Miguel Angel Lopez;
Riveiro-Alvarez, Rosa;
Silva, Luciana Rodrigues Jacy Da;
Sanchez-Alcudia, Rocío;
Martin-Garrido, Esther;
Reyes, Noelia;
Garcia-Garcia, Francisco;
Dopazo, Joaquin;
Garcia-Sandoval, Blanca;
Collin, Rob W. J.;
Cuenca, Nicolas;
Ayuso, Carmen

Publication type:

Article

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3948, doi. 10.1093/hmg/ddv133

By:

Angebault, Claire;
Charif, Majida;
Guegen, Naig;
Piro-Megy, Camille;
de Camaret, Benedicte Mousson;
Procaccio, Vincent;
Guichet, Pierre-Olivier;
Hebrard, Maxime;
Manes, Gael;
Leboucq, Nicolas;
Rivier, François;
Hamel, Christian P.;
Lenaers, Guy;
Roubertie, Agathe

Publication type:

Article

Genetic variants in adult bone mineral density and fracture risk genes are associated with the rate of bone mineral density acquisition in adolescence.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4158, doi. 10.1093/hmg/ddv143

By:

Warrington, Nicole M.;
Kemp, John P.;
Tilling, Kate;
Tobias, Jonathan H.;
Evans, David M.

Publication type:

Article

Leucine-rich repeat kinase 2 deficiency is protective in rhabdomyolysis-induced kidney injury.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4078, doi. 10.1093/hmg/ddv147

By:

Boddu, Ravindra;
Hull, Travis D.;
Bolisetty, Subhashini;
Xianzhen Hu;
Moehle, Mark S.;
Daher, João Paulo Lima;
Kamal, Ahmed Ibrahim;
Joseph, Reny;
George, James F.;
Agarwal, Anupam;
Curtis, Lisa M.;
West, Andrew B.

Publication type:

Article

Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 3994, doi. 10.1093/hmg/ddv137

By:

Damerla, Rama Rao;
Cheng Cui;
Gabriel, George C.;
Xiaoqin Liu;
Craige, Branch;
Gibbs, Brian C.;
Francis, Richard;
You Li;
Chatterjee, Bishwanath;
Agustin, Jovenal T. San;
Eguether, Thibaut;
Subramanian, Ramiah;
Witman, George B.;
Michaud, Jacques L.;
Pazour, Gregory J.;
Lo, Cecilia W.

Publication type:

Article