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

Results: 21

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4460, doi. 10.1093/hmg/ddt295

By:

Lim, Sze Chern;
Friemel, Martin;
Marum, Justine E.;
Tucker, Elena J.;
Bruno, Damien L.;
Riley, Lisa G.;
Christodoulou, John;
Kirk, Edwin P.;
Boneh, Avihu;
DeGennaro, Christine M.;
Springer, Michael;
Mootha, Vamsi K.;
Rouault, Tracey A.;
Leimkühler, Silke;
Thorburn, David R.;
Compton, Alison G.

Publication type:

Article

RNA binding mediates neurotoxicity in the transgenic Drosophila model of TDP-43 proteinopathy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4474, doi. 10.1093/hmg/ddt296

By:

Ihara, Ryoko;
Matsukawa, Koji;
Nagata, Yusei;
Kunugi, Hayato;
Tsuji, Shoji;
Chihara, Takahiro;
Kuranaga, Erina;
Miura, Masayuki;
Wakabayashi, Tomoko;
Hashimoto, Tadafumi;
Iwatsubo, Takeshi

Publication type:

Article

Chemical genetics unveils a key role of mitochondrial dynamics, cytochrome c release and IP3R activity in muscular dystrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4562, doi. 10.1093/hmg/ddt302

By:

Giacomotto, Jean;
Brouilly, Nicolas;
Walter, Ludivine;
Mariol, Marie-Christine;
Berger, Joachim;
Ségalat, Laurent;
Becker, Thomas S.;
Currie, Peter D.;
Gieseler, Kathrin

Publication type:

Article

Loss of c-Jun N-terminal kinase-interacting protein-1 does not affect axonal transport of the amyloid precursor protein or Aβ production.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4646, doi. 10.1093/hmg/ddt313

By:

Vagnoni, Alessio;
Glennon, Elizabeth B.C.;
Perkinton, Michael S.;
Gray, Emma H.;
Noble, Wendy;
Miller, Christopher C.J.

Publication type:

Article

The large non-coding RNA ANRIL, which is associated with atherosclerosis, periodontitis and several forms of cancer, regulates ADIPOR1, VAMP3 and C11ORF10.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4516, doi. 10.1093/hmg/ddt299

By:

Bochenek, Gregor;
Häsler, Robert;
El Mokhtari, Nour-Eddine;
König, Inke R.;
Loos, Bruno G.;
Jepsen, Soeren;
Rosenstiel, Philip;
Schreiber, Stefan;
Schaefer, Arne S.

Publication type:

Article

Modularization and epistatic hierarchy determine homeostatic actions of multiple blood pressure quantitative trait loci.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4451, doi. 10.1093/hmg/ddt294

By:

Chauvet, Cristina;
Crespo, Kimberley;
Ménard, Annie;
Roy, Julie;
Deng, Alan Y.

Publication type:

Article

Sox-Oct motifs contribute to maintenance of the unmethylated H19 ICR in YAC transgenic mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4627, doi. 10.1093/hmg/ddt311

By:

Sakaguchi, Ryuuta;
Okamura, Eiichi;
Matsuzaki, Hitomi;
Fukamizu, Akiyoshi;
Tanimoto, Keiji

Publication type:

Article

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4602, doi. 10.1093/hmg/ddt309

By:

Boczonadi, Veronika;
Smith, Paul M.;
Pyle, Angela;
Gomez-Duran, Aurora;
Schara, Ulrike;
Tulinius, Mar;
Chinnery, Patrick F.;
Horvath, Rita

Publication type:

Article

Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4579, doi. 10.1093/hmg/ddt307

By:

Vilas, Gonzalo L.;
Loganathan, Sampath K.;
Liu, Jun;
Riau, Andri K.;
Young, James D.;
Mehta, Jodhbir S.;
Vithana, Eranga N.;
Casey, Joseph R.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 22, p. NP, doi. 10.1093/hmg/ddt545
Publication type:: Article

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4485, doi. 10.1093/hmg/ddt297

By:

Costain, Gregory;
Lionel, Anath C.;
Merico, Daniele;
Forsythe, Pamela;
Russell, Kathryn;
Lowther, Chelsea;
Yuen, Tracy;
Husted, Janice;
Stavropoulos, Dimitri J.;
Speevak, Marsha;
Chow, Eva W.C.;
Marshall, Christian R.;
Scherer, Stephen W.;
Bassett, Anne S.

Publication type:

Article

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 22, p. 4653, doi. 10.1093/hmg/ddt293
Publication type:: Article

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4638, doi. 10.1093/hmg/ddt312

By:

Shrimal, Shiteshu;
Ng, Bobby G.;
Losfeld, Marie-Estelle;
Gilmore, Reid;
Freeze, Hudson H.

Publication type:

Article

Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIB.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4616, doi. 10.1093/hmg/ddt310

By:

Roussel, Benoit D.;
Newton, Timothy M.;
Malzer, Elke;
Simecek, Nikol;
Haq, Imran;
Thomas, Sally E.;
Burr, Marian L.;
Lehner, Paul J.;
Crowther, Damian C.;
Marciniak, Stefan J.;
Lomas, David A.

Publication type:

Article

Inhibition of excessive mitochondrial fission reduced aberrant autophagy and neuronal damage caused by LRRK2 G2019S mutation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4545, doi. 10.1093/hmg/ddt301

By:

Su, Yu-Chin;
Qi, Xin

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 22, p. NP, doi. 10.1093/hmg/ddt546
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 22, p. NP, doi. 10.1093/hmg/ddt543
Publication type:: Article

IGF-1 receptor antagonism inhibits autophagy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4528, doi. 10.1093/hmg/ddt300

By:

Renna, Maurizio;
Bento, Carla F.;
Fleming, Angeleen;
Menzies, Fiona M.;
Siddiqi, Farah H.;
Ravikumar, Brinda;
Puri, Claudia;
Garcia-Arencibia, Moises;
Sadiq, Oana;
Corrochano, Silvia;
Carter, Sarah;
Brown, Steve D.M.;
Acevedo-Arozena, Abraham;
Rubinsztein, David C.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 22, p. NP, doi. 10.1093/hmg/ddt544
Publication type:: Article

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4591, doi. 10.1093/hmg/ddt308

By:

Fofou-Caillierez, Ma'atem B.;
Mrabet, Nadir T.;
Chéry, Céline;
Dreumont, Natacha;
Flayac, Justine;
Pupavac, Mihaela;
Paoli, Justine;
Alberto, Jean-Marc;
Coelho, David;
Camadro, Jean-Michel;
Feillet, François;
Watkins, David;
Fowler, Brian;
Rosenblatt, David S.;
Guéant, Jean-Louis

Publication type:

Article

Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 22, p. 4502, doi. 10.1093/hmg/ddt298

By:

Guibinga, Ghiabe-Henri;
Murray, Fiona;
Barron, Nikki;
Pandori, William;
Hrustanovic, Gorjan

Publication type:

Article