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

Results: 21

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
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
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
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
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
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
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
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
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
Subscription Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 22, p. NP, doi. 10.1093/hmg/ddt546
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
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
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
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