Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 8

Results: 16

Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1600, doi. 10.1093/hmg/ddw036

By:

Riechers, Sean-Patrick;
Butland, Stefanie;
Yu Deng;
Skotte, Niels;
Ehrnhoefer, Dagmar E.;
Russ, Jenny;
Laine, Jean;
Laroche, Melissa;
Pouladi, Mahmoud A.;
Wanker, Erich E.;
Hayden, Michael R.;
Graham, Rona K.

Publication type:

Article

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1663, doi. 10.1093/hmg/ddw027

By:

Machiela, Mitchell J.;
Qing Lan;
Slager, Susan L.;
Vermeulen, Roel C.H.;
Teras, Lauren R.;
Camp, Nicola J.;
Cerhan, James R.;
Spinelli, John J.;
Wang, Sophia S.;
Nieters, Alexandra;
Vijai, Joseph;
Yeager, Meredith;
Zhaoming Wang;
Ghesquières, Hervé;
McKay, James;
Conde, Lucia;
de Bakker, Paul I. W.;
Cox, David G.;
Burdett, Laurie;
Monnereau, Alain

Publication type:

Article

Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1637, doi. 10.1093/hmg/ddw041

By:

Jeng-Hung Wu;
Jorn-Hon Liu;
Yu-Chieh Ko;
Chi-Tang Wang;
Yu-Chien Chung;
Kuo-Chang Chu;
Tze-Tze Liu;
Hsiao-Ming Chao;
Yun-Jin Jiang;
Shih-Jen Chen;
Ming-Yi Chung

Publication type:

Article

Antisense targeting of 30 end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1468, doi. 10.1093/hmg/ddw015

By:

Marsollier, Anne-Charlotte;
Ciszewski, Lukasz;
Mariot, Virginie;
Popplewell, Linda;
Voit, Thomas;
Dickson, George;
Dumonceaux, Julie

Publication type:

Article

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1543, doi. 10.1093/hmg/ddw032

By:

Lanciotti, Angela;
Brignone, Maria Stefania;
Visentin, Sergio;
De Nuccio, Chiara;
Catacuzzeno, Luigi;
Mallozzi, Cinzia;
Petrini, Stefania;
Caramia, Martino;
Veroni, Caterina;
Minnone, Gaetana;
Bernardo, Antonietta;
Franciolini, Fabio;
Pessia, Mauro;
Bertini, Enrico;
Petrucci, Tamara Corinna;
Ambrosini, Elena

Publication type:

Article

A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1648, doi. 10.1093/hmg/ddw042

By:

Gudde, Anke E. E. G.;
González-Barriga, Anchel;
van den Broek, Walther J. A. A.;
Wieringa, Bé;
Wansink, Derick G.

Publication type:

Article

NLRP3 inflammasome activation drives bystander cone photoreceptor cell death in a P23H rhodopsin model of retinal degeneration.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1501, doi. 10.1093/hmg/ddw029

By:

Viringipurampeer, Ishaq A.;
Metcalfe, Andrew L.;
Bashar, Abu E.;
Sivak, Olena;
Yanai, Anat;
Mohammadi, Zeinabsadat;
Moritz, Orson L.;
Gregory-Evans, Cheryl Y.;
Gregory-Evans, Kevin

Publication type:

Article

Allelic series of Huntington's disease knock-in mice reveals expression discorrelates.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1619, doi. 10.1093/hmg/ddw040

By:

Kumar, Ashish;
Zhang, Jennifer;
Tallaksen-Greene, Sara;
Crowley, Michael R.;
Crossman, David K.;
Morton, A. Jennifer;
Van Groen, Thomas;
Kadish, Inga;
Albin, Roger L.;
Lesort, Mathieu;
Detloff, Peter J.

Publication type:

Article

ALS mouse model SOD1<sup>G93A</sup> displays early pathology of sensory small fibers associated to accumulation of a neurotoxic splice variant of peripherin.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1588, doi. 10.1093/hmg/ddw035

By:

Sassone, Jenny;
Taiana, Michela;
Lombardi, Raffaella;
Porretta-Serapiglia, Carla;
Freschi, Mattia;
Bonanno, Silvia;
Marcuzzo, Stefania;
Caravello, Francesca;
Bendotti, Caterina;
Lauria, Giuseppe

Publication type:

Article

ATR promotes cilia signalling: links to developmental impacts.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1574, doi. 10.1093/hmg/ddw034

By:

Stiff, Tom;
Tena, Teresa Casar;
O'Driscoll, Mark;
Jeggo, Penny A.;
Philipp, Melanie

Publication type:

Article

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1559, doi. 10.1093/hmg/ddw033

By:

Davignon, Laurianne;
Chauveau, Claire;
Julien, Cédric;
Dill, Corinne;
Duband-Goulet, Isabelle;
Cabet, Eva;
Buendia, Brigitte;
Lilienbaum, Alain;
Rendu, John;
Minot, Marie Christine;
Guichet, Agnès;
Allamand, Valérie;
Vadrot, Nathalie;
Fauré, Julien;
Odent, Sylvie;
Lazaro, Leïla;
Leroy, Jean Paul;
Marcorelles, Pascale;
Dubourg, Odile;
Ferreiro, Ana

Publication type:

Article

Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1528, doi. 10.1093/hmg/ddw031

By:

Malissovas, Nikos;
Griffin, Laurie B.;
Antonellis, Anthony;
Beis, Dimitris

Publication type:

Article

The effect of non-coding DNA variations on P53 and cMYC competitive inhibition at cis-overlapping motifs.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1517, doi. 10.1093/hmg/ddw030

By:

Kin, Katherine;
Xi Chen;
Gonzalez-Garay, Manuel;
Fakhouri, Walid D.

Publication type:

Article

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1489, doi. 10.1093/hmg/ddw026

By:

Potelle, Sven;
Morelle, Willy;
Dulary, Eudoxie;
Duvet, Sandrine;
Vicogne, Dorothée;
Spriet, Corentin;
Krzewinski-Recchi, Marie-Ange;
Morsomme, Pierre;
Jaeken, Jaak;
Matthijs, Gert;
De Bettignies, Geoffroy;
Foulquier, François

Publication type:

Article

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1479, doi. 10.1093/hmg/ddw022

By:

Mingchu Xu;
Takeyuki Yamada;
Zixi Sun;
Aiden Eblimit;
Irma Lopez;
Feng Wang;
Hiroshi Manya;
Shan Xu;
Li Zhao;
Yumei Li;
Adva Kimchi;
Dror Sharon;
Ruifang Sui;
Tamao Endo;
Koenekoop, Robert K.;
Rui Chen

Publication type:

Article

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 8, p. 1457, doi. 10.1093/hmg/ddw014

By:

Nathan, Nadia;
Giraud, Violaine;
Picard, Clément;
Nunes, Hilario;
Moal, Florence Dastot-Le;
Copin, Bruno;
Galeron, Laurie;
De Ligniville, Alice;
Kuziner, Nathalie;
Reynaud-Gaubert, Martine;
Valeyre, Dominique;
Couderc, Louis-Jean;
Chinet, Thierry;
Borie, Raphaël;
Crestani, Bruno;
Simansour, Maud;
Nau, Valérie;
Tissier, Sylvie;
Duquesnoy, Philippe;
Mansour-Hendili, Lamisse

Publication type:

Article