Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 9

Results: 27

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2339, doi. 10.1093/hmg/ddt627

By:

Zou, Yaqun;
Zwolanek, Daniela;
Izu, Yayoi;
Gandhy, Shreya;
Schreiber, Gudrun;
Brockmann, Knut;
Devoto, Marcella;
Tian, Zuozhen;
Hu, Ying;
Veit, Guido;
Meier, Markus;
Stetefeld, Jörg;
Hicks, Debbie;
Straub, Volker;
Voermans, Nicol C.;
Birk, David E.;
Barton, Elisabeth R.;
Koch, Manuel;
Bönnemann, Carsten G.

Publication type:

Article

Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2324, doi. 10.1093/hmg/ddt625

By:

Caron, Nicholas S.;
Hung, Claudia L.;
Atwal, Randy S.;
Truant, Ray

Publication type:

Article

Cohen syndrome is associated with major glycosylation defects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630

By:

Duplomb, Laurence;
Duvet, Sandrine;
Picot, Damien;
Jego, Gaëtan;
El Chehadeh-Djebbar, Salima;
Marle, Nathalie;
Gigot, Nadège;
Aral, Bernard;
Carmignac, Virginie;
Thevenon, Julien;
Lopez, Estelle;
Rivière, Jean-Baptiste;
Klein, André;
Philippe, Christophe;
Droin, Nathalie;
Blair, Edward;
Girodon, François;
Donadieu, Jean;
Bellanné-Chantelot, Christine;
Delva, Laurent

Publication type:

Article

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2374, doi. 10.1093/hmg/ddt629

By:

Zou, Junhuang;
Zheng, Tihua;
Ren, Chongyu;
Askew, Charles;
Liu, Xiao-Ping;
Pan, Bifeng;
Holt, Jeffrey R.;
Wang, Yong;
Yang, Jun

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu164
Publication type:: Article

FTY720 (fingolimod) is a neuroprotective and disease-modifying agent in cellular and mouse models of Huntington disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2251, doi. 10.1093/hmg/ddt615

By:

Di Pardo, Alba;
Amico, Enrico;
Favellato, Mariagrazia;
Castrataro, Roberta;
Fucile, Sergio;
Squitieri, Ferdinando;
Maglione, Vittorio

Publication type:

Article

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2447, doi. 10.1093/hmg/ddt640

By:

Yasui, Dag H.;
Gonzales, Michael L.;
Aflatooni, Justin O.;
Crary, Florence K.;
Hu, Daniel J.;
Gavino, Bryant J.;
Golub, Mari S.;
Vincent, John B.;
Carolyn Schanen, N.;
Olson, Carl O.;
Rastegar, Mojgan;
Lasalle, Janine M.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu163
Publication type:: Article

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2481, doi. 10.1093/hmg/ddt619

By:

Almeida, Rodrigo;
Ricaño-Ponce, Isis;
Kumar, Vinod;
Deelen, Patrick;
Szperl, Agata;
Trynka, Gosia;
Gutierrez-Achury, Javier;
Kanterakis, Alexandros;
Westra, Harm-Jan;
Franke, Lude;
Swertz, Morris A.;
Platteel, Mathieu;
Bilbao, Jose Ramon;
Barisani, Donatella;
Greco, Luigi;
Mearin, Luisa;
Wolters, Victorien M.;
Mulder, Chris;
Mazzilli, Maria Cristina;
Sood, Ajit

Publication type:

Article

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2440, doi. 10.1093/hmg/ddt639

By:

Castro-Vega, Luis Jaime;
Buffet, Alexandre;
De Cubas, Aguirre A.;
Cascón, Alberto;
Menara, Mélanie;
Khalifa, Emmanuel;
Amar, Laurence;
Azriel, Sharona;
Bourdeau, Isabelle;
Chabre, Olivier;
Currás-Freixes, Maria;
Franco-Vidal, Valérie;
Guillaud-Bataille, Marine;
Simian, Christophe;
Morin, Aurélie;
Letón, Rocío;
Gómez-Graña, Álvaro;
Pollard, Patrick J.;
Rustin, Pierre;
Robledo, Mercedes

Publication type:

Article

CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2313, doi. 10.1093/hmg/ddt624

By:

Strittmatter, Laura;
Li, Yang;
Nakatsuka, Nathan J.;
Calvo, Sarah E.;
Grabarek, Zenon;
Mootha, Vamsi K.

Publication type:

Article

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2353, doi. 10.1093/hmg/ddt637

By:

Hicks, Debbie;
Farsani, Golara Torabi;
Laval, Steven;
Collins, James;
Sarkozy, Anna;
Martoni, Elena;
Shah, Ashoke;
Zou, Yaqun;
Koch, Manuel;
Bönnemann, Carsten G.;
Roberts, Mark;
Lochmüller, Hanns;
Bushby, Kate;
Straub, Volker

Publication type:

Article

The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2428, doi. 10.1093/hmg/ddt638

By:

Qin, Y.;
Deng, Y.;
Ricketts, C.J.;
Srikantan, S.;
Wang, E.;
Maher, E.R.;
Dahia, P. L.M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu161
Publication type:: Article

Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2364, doi. 10.1093/hmg/ddt628

By:

Martins-Taylor, Kristen;
Hsiao, Jack S.;
Chen, Pin-Fang;
Glatt-Deeley, Heather;
De Smith, Adam J.;
Blakemore, Alexandra I.F.;
Lalande, Marc;
Chamberlain, Stormy J.

Publication type:

Article

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2235, doi. 10.1093/hmg/ddt612

By:

Hunter, Gillian;
Aghamaleky Sarvestany, Arwin;
Roche, Sarah L.;
Symes, Rebecca C.;
Gillingwater, Thomas H.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu162
Publication type:: Article

Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2468, doi. 10.1093/hmg/ddt642

By:

Brookes, Steven J.;
Barron, Martin J.;
Boot-Handford, Ray;
Kirkham, Jennifer;
Dixon, Michael J.

Publication type:

Article

Smoke-related DNA methylation changes in the etiology of human disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2290, doi. 10.1093/hmg/ddt621

By:

Besingi, Welisane;
Johansson, Åsa

Publication type:

Article

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2266, doi. 10.1093/hmg/ddt617

By:

Raggi, Claudia;
Luciani, Alessandro;
Nevo, Nathalie;
Antignac, Corinne;
Terryn, Sara;
Devuyst, Olivier

Publication type:

Article

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2498

By:

Yoneyama, Sachiko;
Guo, Yiran;
Lanktree, Matthew B.;
Barnes, Michael R.;
Elbers, Clara C.;
Karczewski, Konrad J;
Padmanabhan, Sandosh;
Bauer, Florianne;
Baumert, Jens;
Beitelshees, Amber;
Berenson, Gerald S.;
Boer, Jolanda M.A.;
Burke, Gregory;
Cade, Brian;
Chen, Wei;
Cooper-Dehoff, Rhonda M.;
Gaunt, Tom R.;
Gieger, Christian;
Gong, Yan;
Gorski, Mathias

Publication type:

Article

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618

By:

Laquérriere, Annie;
Maluenda, Jérome;
Camus, Adrien;
Fontenas, Laura;
Dieterich, Klaus;
Nolent, Flora;
Zhou, Jié;
Monnier, Nicole;
Latour, Philippe;
Gentil, Damien;
Héron, Delphine;
Desguerres, Isabelle;
Landrieu, Pierre;
Beneteau, Claire;
Delaporte, Benoit;
Bellesme, Céline;
Baumann, Clarisse;
Capri, Yline;
Goldenberg, Alice;
Lyonnet, Stanislas

Publication type:

Article

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459

By:

Cámara, Yolanda;
González-Vioque, Emiliano;
Scarpelli, Mauro;
Torres-Torronteras, Javier;
Caballero, Andrea;
Hirano, Michio;
Martí, Ramon

Publication type:

Article

Defining the action spectrum of potential PGC-1α activators on a mitochondrial and cellular level in vivo.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2400, doi. 10.1093/hmg/ddt631

By:

Hofer, Annette;
Noe, Natalie;
Tischner, Christin;
Kladt, Nikolay;
Lellek, Veronika;
Schauß, Astrid;
Wenz, Tina

Publication type:

Article

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2490

By:

Perry, John R.B.;
Hsu, Yi-Hsiang;
Chasman, Daniel I.;
Johnson, Andrew D.;
Elks, Cathy;
Albrecht, Eva;
Andrulis, Irene L.;
Beesley, Jonathan;
Berenson, Gerald S.;
Bergmann, Sven;
Bojesen, Stig E.;
Bolla, Manjeet K.;
Brown, Judith;
Buring, Julie E.;
Campbell, Harry;
Chang-Claude, Jenny;
Chenevix-Trench, Georgia;
Corre, Tanguy;
Couch, Fergus J.;
Cox, Angela

Publication type:

Article

Dysregulation of T cell receptor N-glycosylation: a molecular mechanism involved in ulcerative colitis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2416, doi. 10.1093/hmg/ddt632

By:

Dias, Ana M.;
Dourado, Joana;
Lago, Paula;
Cabral, Joana;
Marcos-Pinto, Ricardo;
Salgueiro, Paulo;
Almeida, Catarina R.;
Carvalho, Sandra;
Fonseca, Sónia;
Lima, Margarida;
Vilanova, Manuel;
Dinis-Ribeiro, Mário;
Reis, Celso A.;
Pinho, Salomé S.

Publication type:

Article

Compromised paraspeckle formation as a pathogenic factor in FUSopathies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2298, doi. 10.1093/hmg/ddt622

By:

Shelkovnikova, Tatyana A.;
Robinson, Hannah K.;
Troakes, Claire;
Ninkina, Natalia;
Buchman, Vladimir L.

Publication type:

Article