Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 13

Results: 22

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt269
Publication type:: Article

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2754

By:

Stambolian, Dwight;
Wojciechowski, Robert;
Oexle, Konrad;
Pirastu, Mario;
Li, Xiaohui;
Raffel, Leslie J.;
Cotch, Mary Frances;
Chew, Emily Y.;
Klein, Barbara;
Klein, Ronald;
Wong, Tien Y.;
Simpson, Claire L.;
Klaver, Caroline C.W.;
van Duijn, Cornelia M.;
Verhoeven, Virginie J.M.;
Baird, Paul N.;
Vitart, Veronique;
Paterson, Andrew D.;
Mitchell, Paul;
Saw, Seang Mei

Publication type:

Article

Exclusive skeletal muscle correction does not modulate dystrophic heart disease in the aged mdx model of Duchenne cardiomyopathy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2634, doi. 10.1093/hmg/ddt112

By:

Wasala, Nalinda B.;
Bostick, Brian;
Yue, Yongping;
Duan, Dongsheng

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt270
Publication type:: Article

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2642, doi. 10.1093/hmg/ddt113

By:

Zhou, Weichen;
Zhang, Feng;
Chen, Xiaoli;
Shen, Yiping;
Lupski, James R.;
Jin, Li

Publication type:

Article

Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2553, doi. 10.1093/hmg/ddt103

By:

Tateossian, Hilda;
Morse, Susan;
Parker, Andrew;
Mburu, Philomena;
Warr, Nick;
Acevedo-Arozena, Abraham;
Cheeseman, Michael;
Wells, Sara;
Brown, Steve D.M.

Publication type:

Article

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2676, doi. 10.1093/hmg/ddt117

By:

Vance, Caroline;
Scotter, Emma L.;
Nishimura, Agnes L.;
Troakes, Claire;
Mitchell, Jacqueline C.;
Kathe, Claudia;
Urwin, Hazel;
Manser, Catherine;
Miller, Christopher C.;
Hortobágyi, Tibor;
Dragunow, Mike;
Rogelj, Boris;
Shaw, Christopher E.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt271
Publication type:: Article

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2652, doi. 10.1093/hmg/ddt114

By:

Ghoumid, Jamal;
Drevillon, Loïc;
Alavi-Naini, Seyedeh Maryam;
Bondurand, Nadège;
Rio, Marlène;
Briand-Suleau, Audrey;
Nasser, Mayssa;
Goodwin, Linda;
Raymond, Patrick;
Yanicostas, Constantin;
Goossens, Michel;
Lyonnet, Stanislas;
Mowat, David;
Amiel, Jeanne;
Soussi-Yanicostas, Nadia;
Giurgea, Irina

Publication type:

Article

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2662, doi. 10.1093/hmg/ddt115

By:

Chan, Ping K.;
Torres, Raul;
Yandim, Cihangir;
Law, Pui P.;
Khadayate, Sanjay;
Mauri, Marta;
Grosan, Crina;
Chapman-Rothe, Nadine;
Giunti, Paola;
Pook, Mark;
Festenstein, Richard

Publication type:

Article

Trans-splicing correction of tau isoform imbalance in a mouse model of tau mis-splicing.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2603, doi. 10.1093/hmg/ddt108

By:

Avale, María Elena;
Rodríguez-Martín, Teresa;
Gallo, Jean-Marc

Publication type:

Article

Predicting the impact of diet and enzymopathies on human small intestinal epithelial cells.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2705, doi. 10.1093/hmg/ddt119

By:

Sahoo, Swagatika;
Thiele, Ines

Publication type:

Article

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2723, doi. 10.1093/hmg/ddt120

By:

Miller, Jake N.;
Chan, Chun-Hung;
Pearce, David A.

Publication type:

Article

Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2748, doi. 10.1093/hmg/ddt109

By:

Schumacher, Fredrick R.;
Wang, Zhaoming;
Skotheim, Rolf I.;
Koster, Roelof;
Chung, Charles C.;
Hildebrandt, Michelle A. T.;
Kratz, Christian P.;
Bakken, Anne C.;
Timothy Bishop, D.;
Cook, Michael B.;
Erickson, R. Loren;
Fosså, Sophie D.;
Greene, Mark H.;
Jacobs, Kevin B.;
Kanetsky, Peter A.;
Kolonel, Laurence N.;
Loud, Jennifer T.;
Korde, Larissa A.;
Le Marchand, Loic;
Pablo Lewinger, Juan

Publication type:

Article

Absence of cell-surface EpCAM in congenital tufting enteropathy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2566, doi. 10.1093/hmg/ddt105

By:

Schnell, Ulrike;
Kuipers, Jeroen;
Mueller, James L.;
Veenstra-Algra, Anneke;
Sivagnanam, Mamata;
Giepmans, Ben N.G.

Publication type:

Article

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107

By:

Ajit Bolar, Nikhita;
Vanlander, Arnaud Vincent;
Wilbrecht, Claudia;
Van der Aa, Nathalie;
Smet, Joél;
De Paepe, Boel;
Vandeweyer, Geert;
Kooy, Frank;
Eyskens, François;
De Latter, Elien;
Delanghe, Gwenda;
Govaert, Paul;
Leroy, Jules Gerard;
Loeys, Bart;
Lill, Roland;
Van Laer, Lut;
Van Coster, Rudy

Publication type:

Article

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2626, doi. 10.1093/hmg/ddt111

By:

Pitcher, Meagan R.;
Ward, Christopher S.;
Arvide, E. Melissa;
Chapleau, Christopher A.;
Pozzo-Miller, Lucas;
Hoeflich, Andreas;
Sivaramakrishnan, Manaswini;
Saenger, Stefanie;
Metzger, Friedrich;
Neul, Jeffrey L.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt268
Publication type:: Article

PINK1 rendered temperature sensitive by disease-associated and engineered mutations.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2572, doi. 10.1093/hmg/ddt106

By:

Narendra, Derek P.;
Wang, Chunxin;
Youle, Richard J.;
Walker, John E.

Publication type:

Article

Increased levels of phosphoinositides cause neurodegeneration in a Drosophila model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2689, doi. 10.1093/hmg/ddt118

By:

Forrest, Stuart;
Chai, Andrea;
Sanhueza, Mario;
Marescotti, Manuela;
Parry, Katherine;
Georgiev, Atanas;
Sahota, Virender;
Mendez-Castro, Raquel;
Pennetta, Giuseppa

Publication type:

Article

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2735

By:

Cousminer, Diana L.;
Berry, Diane J.;
Timpson, Nicholas J.;
Ang, Wei;
Thiering, Elisabeth;
Byrne, Enda M.;
Taal, H. Rob;
Huikari, Ville;
Bradfield, Jonathan P.;
Kerkhof, Marjan;
Groen-Blokhuis, Maria M.;
Kreiner-Møller, Eskil;
Marinelli, Marcella;
Holst, Claus;
Leinonen, Jaakko T.;
Perry, John R.B.;
Surakka, Ida;
Pietiläinen, Olli;
Kettunen, Johannes;
Anttila, Verneri

Publication type:

Article

Temporal requirement for SMN in motoneuron development.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 13, p. 2612, doi. 10.1093/hmg/ddt110

By:

Hao, Le T.;
Duy, Phan Q.;
Jontes, James D.;
Wolman, Marc;
Granato, Michael;
Beattie, Christine E.

Publication type:

Article