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

Results: 23

A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7151, doi. 10.1093/hmg/ddv412

By:

Didonna, Alessandro;
Isobe, Noriko;
Caillier, Stacy J.;
Li, Kathy H.;
Burlingame, Alma L.;
Hauser, Stephen L.;
Baranzini, Sergio E.;
Patsopoulos, Nikolaos A.;
Oksenberg, Jorge R.

Publication type:

Article

APP overexpression in the absence of NPC1 exacerbates metabolism of amyloidogenic proteins of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7132, doi. 10.1093/hmg/ddv413

By:

Maulik, Mahua;
Peake, Kyle;
JiYun Chung;
Yanlin Wang;
Vance, Jean E.;
Kar, Satyabrata

Publication type:

Article

Genome-wide disruption of 5-hydroxymethylcytosine in a mouse model of autism.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7121, doi. 10.1093/hmg/ddv411

By:

Papale, Ligia A.;
Qi Zhang;
Sisi Li;
Kailei Chen;
Keles, Sündüz;
Alisch, Reid S.

Publication type:

Article

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7111, doi. 10.1093/hmg/ddv410

By:

Bergareche, Alberto;
Bednarz, Marcin;
Sánchez, Elena;
Krebs, Catharine E.;
Ruiz-Martinez, Javier;
La Riva, Patricia De;
Makarov, Vladimir;
Gorostidi, Ana;
Jurkat-Rott, Karin;
Marti-Masso, Jose Felix;
Paisán-Ruiz, Coro

Publication type:

Article

Use of the HPRT gene to study nuclease-induced DNA double-strand break repair.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7097, doi. 10.1093/hmg/ddv409

By:

Gravells, Polly;
Ahrabi, Sara;
Vangala, Rajani K.;
Tomita, Kazunori;
Brash, James T.;
Brustle, Lena A.;
Christopher Chung;
Hong, Julia M.;
Kaloudi, Aikaterini;
Humphrey, Timothy C.;
Porter, Andrew C.G.

Publication type:

Article

Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7087, doi. 10.1093/hmg/ddv408

By:

Xiao-Nan Zhao;
Kumari, Daman;
Gupta, Shikha;
Di Wu;
Evanitsky, Maya;
Wei Yang;
Usdin, Karen

Publication type:

Article

Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7075, doi. 10.1093/hmg/ddv407

By:

Kuehn, Sonja C.;
Koehne, Till;
Cornils, Kerstin;
Markmann, Sandra;
Riedel, Christoph;
Pestka, Jan M.;
Schweizer, Michaela;
Baldauf, Christina;
Yorgan, Timur A.;
Krause, Matthias;
Keller, Johannes;
Neven, Mona;
Breyer, Sandra;
Stuecker, Ralf;
Muschol, Nicole;
Busse, Bjoern;
Braulke, Thomas;
Fehse, Boris;
Amling, Michael;
Schinke, Thorsten

Publication type:

Article

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3<sup>Δex1-6</sup> mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7060, doi. 10.1093/hmg/ddv406

By:

Wavre-Shapton, Silène T.;
Calvi, Alessandra A.;
Turmaine, Mark;
Seabra, Miguel C.;
Cutler, Daniel F.;
Futter, Clare E.;
Mitchison, Hannah M.

Publication type:

Article

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6958, doi. 10.1093/hmg/ddv399

By:

Collin, Gayle B.;
Hubmacher, Dirk;
Charette, Jeremy R.;
Hicks, Wanda L.;
Stone, Lisa;
Minzhong Yu;
Naggert, Jürgen K.;
Krebs, Mark P.;
Peachey, Neal S.;
Apte, Suneel S.;
Nishina, Patsy M.

Publication type:

Article

Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7049, doi. 10.1093/hmg/ddv405

By:

Ruppert, T.;
Schumann, A.;
Gröne, H. J.;
Okun, J. G.;
Kölker, S.;
Morath, M. A.;
Sauer, S. W.

Publication type:

Article

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7017, doi. 10.1093/hmg/ddv403

By:

Mathur, Pranav Dinesh;
Vijayakumar, Sarath;
Vashist, Deepti;
Jones, Sherri M.;
Jones, Timothy A.;
Jun Yang

Publication type:

Article

A neural crest origin for cohesinopathy heart defects.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7005, doi. 10.1093/hmg/ddv402

By:

Schuster, Kevin;
Leeke, Bryony;
Meier, Michael;
Yizhou Wang;
Newman, Trent;
Burgess, Sean;
Horsfield, Julia A.

Publication type:

Article

Genetic inhibition of JNK3 ameliorates spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6986, doi. 10.1093/hmg/ddv401

By:

Genabai, Naresh K.;
Ahmad, Saif;
Zhanying Zhang;
Xiaoting Jiang;
Gabaldon, Cynthia A.;
Gangwani, Laxman

Publication type:

Article

The cumulative effect of assisted reproduction procedures on placental development and epigenetic perturbations in a mouse model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6975, doi. 10.1093/hmg/ddv400

By:

deWaal, Eric;
Vrooman, Lisa A.;
Fischer, Erin;
Ord, Teri;
Mainigi, Monica A.;
Coutifaris, Christos;
Schultz, Richard M.;
Bartolomei, Marisa S.

Publication type:

Article

Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 7031, doi. 10.1093/hmg/ddv404

By:

Dasgupta, Nupur;
You-hai Xu;
Ronghua Li;
Yanyan Peng;
Pandey, Manoj K.;
Tinch, Stuart L.;
Benjamin Liou;
Inskeep, Venette;
Wujuan Zhang;
Setchell, Kenneth D.R.;
Keddache, Mehdi;
Grabowski, Gregory A.;
Ying Sun

Publication type:

Article

Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6944, doi. 10.1093/hmg/ddv398

By:

Junhuang Zou;
Mathur, Pranav D.;
Tihua Zheng;
Yong Wang;
Almishaal, Ali;
Park, Albert H.;
Jun Yang

Publication type:

Article

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6932, doi. 10.1093/hmg/ddv397

By:

Yanjie Li;
Yue Lu;
Polak, Urszula;
Lin, Kevin;
Jianjun Shen;
Farmerq, Jennifer;
Seyer, Lauren;
Bhalla, Angela D.;
Rozwadowska, Natalia;
Lynch, David R.;
Butler, Jill Sergesketter;
Napierala, Marek

Publication type:

Article

Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6921, doi. 10.1093/hmg/ddv396

By:

Pisano, Annalinda;
Preziuso, Carmela;
Iommarini, Luisa;
Perli, Elena;
Grazioli, Paola;
Campese, Antonio F.;
Maresca, Alessandra;
Montopoli, Monica;
Masuelli, Laura;
Sadun, Alfredo A.;
d'Amati, Giulia;
Carelli, Valerio;
Ghelli, Anna;
Giordano, Carla

Publication type:

Article

3'UTR shortening and EGF signaling: implications for breast cancer.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6910, doi. 10.1093/hmg/ddv391

By:

Akman, Hesna Begum;
Oyken, Merve;
Tuncer, Taner;
Can, Tolga;
Erson-Bensan, Ayse Elif

Publication type:

Article

Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6899, doi. 10.1093/hmg/ddv390

By:

Oswald, Matthew C. W.;
West, Ryan J. H.;
Lloyd-Evans, Emyr;
Sweeney, Sean T.

Publication type:

Article

Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6886, doi. 10.1093/hmg/ddv389

By:

Coyne, Alyssa N.;
Yamada, Shizuka B.;
Siddegowda, Bhavani Bagevalu;
Zaepfel, Benjamin L.;
Johannesmeyer, Jeffrey S.;
Lockwood, Donovan B.;
Pham, Linh T.;
Hart, Michael P.;
Cassel, Joel A.;
Freibaum, Brian;
Boehringer, Ashley V.;
Taylor, J. Paul;
Reitz, Allen B.;
Gitler, Aaron D.;
Zarnescu, Daniela C.

Publication type:

Article

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6877, doi. 10.1093/hmg/ddv388

By:

Melo, Uirá S.;
Macedo-Souza, Lucia I.;
Figueiredo, Thalita;
Muotri, Alysson R.;
Gleeson, Joseph G.;
Coux, Gabriela;
Armas, Pablo;
Calcaterra, Nora B.;
Kitajima, João P.;
Amorim, Simone;
Olávio, Thiago R.;
Griesi-Oliveira, Karina;
Coatti, Giuliana C.;
Rocha, Clarissa R.R.;
Martins-Pinheiro, Marinalva;
Menck, Carlos F.M.;
Zaki, Maha S.;
Kok, Fernando;
Zatz, Mayana;
Santos, Silvana

Publication type:

Article

onAltered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 24, p. 6861, doi. 10.1093/hmg/ddv375

By:

Ruiz, Montserrat;
Jové, Mariona;
Schlüter, Agatha;
Casasnovas, Carlos;
Villarroya, Francesc;
Guilera, Cristina;
Ortega, Francisco J.;
Naudí, Alba;
Pamplona, Reinald;
Gimeno, Ramón;
Fourcade, Stéphane;
Portero-Otín, Manuel;
Pujol, Aurora

Publication type:

Article