Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 4

Results: 18

Hypothermia improves disease manifestations in SMA mice via SMN augmentation.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 631, doi. 10.1093/hmg/ddv500
By:
- Li-Kai Tsai;
- Chien-Lin Chen;
- Yi-Chieh Tsai;
- Chen-Hung Ting;
- Yin-Hsio Chien;
- Ni-Chong Lee;
- Wuh-Liang Hwu
Publication type:
Article
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 642, doi. 10.1093/hmg/ddv501
By:
- Ronzoni, Riccardo;
- Berardelli, Romina;
- Medicina, Daniela;
- Sitia, Roberto;
- Gooptu, Bibek;
- Fra, Anna Maria
Publication type:
Article
Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 715, doi. 10.1093/hmg/ddv509
By:
- Pitayu, Laras;
- Baruffini, Enrico;
- Rodier, Celine;
- Rötig, Agnès;
- Lodi, Tiziana;
- Delahodde, Agnès
Publication type:
Article
Genome-wide association study of dental caries in the Hispanic Communities Health Study/Study of Latinos (HCHS/SOL).
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 807, doi. 10.1093/hmg/ddv506
By:
- Morrison, Jean;
- Laurie, Cathy C.;
- Marazita, Mary L.;
- Sanders, Anne E.;
- Offenbacher, Steven;
- Salazar, Christian R.;
- Conomos, Matthew P.;
- Thornton, Timothy;
- Jain, Deepti;
- Laurie, Cecelia A.;
- Kerr, Kathleen F.;
- Papanicolaou, George;
- Taylor, Kent;
- Kaste, Linda M.;
- Beck, James D.;
- Shaffer, John R.
Publication type:
Article
Deletion of the miR-379/miR-410 gene cluster at the imprinted Dlk1-Dio3 locus enhances anxiety-related behaviour.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 728, doi. 10.1093/hmg/ddv510
By:
- Marty, Virginie;
- Labialle, Stéphane;
- Bortolin-Cavaillé, Marie-Line;
- De Medeiros, Gabriela Ferreira;
- Moisan, Marie-Pierre;
- Florian, Cédrick;
- Cavaillé, Jérôme
Publication type:
Article
PARK2 enhancement is able to compensate mitophagy alterations found in sporadic Alzheimer's disease.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 792, doi. 10.1093/hmg/ddv616
By:
- Martín-Maestro, Patricia;
- Gargini, Ricardo;
- Perry, George;
- Avila, Jesús;
- García-Escudero, Vega
Publication type:
Article
Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 766, doi. 10.1093/hmg/ddv614
By:
- Huan Liu;
- Leslie, Elizabeth J.;
- Zhonglin Jia;
- Smith, Tiffany;
- Eshete, Mekonen;
- Butali, Azeez;
- Dunnwald, Martine;
- Murray, Jeffrey;
- Cornell, Robert A.
Publication type:
Article
Synphilin-1 attenuates mutant LRRK2-induced neurodegeneration in Parkinson's disease models.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 672, doi. 10.1093/hmg/ddv504
By:
- Jingnan Liu;
- Tianxia Li;
- Thomas, Joseph M.;
- Zhong Pei;
- Haibing Jiang;
- Engelender, Simone;
- Ross, Christopher A.;
- Smith, Wanli W.
Publication type:
Article
Tissue-specific modulation of mitochondrial DNA segregation by a defect in mitochondrial division.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 706, doi. 10.1093/hmg/ddv508
By:
- Jokinen, Riikka;
- Marttinen, Paula;
- Stewart, James B.;
- Neil Dear, T.;
- Battersby, Brendan J.
Publication type:
Article
Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 660, doi. 10.1093/hmg/ddv503
By:
- Ghosh, Alok;
- Pratt, Anthony T.;
- Soma, Shivatheja;
- Theriault, Sarah G.;
- Griffin, Aaron T.;
- Trivedi, Prachi P.;
- Gohil, Vishal M.
Publication type:
Article
Chronic gastroesophageal reflux disease shares genetic background with esophageal adenocarcinoma and Barrett's esophagus.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 828, doi. 10.1093/hmg/ddv512
By:
- Gharahkhani, Puya;
- Tung, Joyce;
- Hinds, David;
- Mishra, Aniket;
- Vaughan, Thomas L.;
- Whiteman, David C.;
- MacGregor, Stuart
Publication type:
Article
Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 817, doi. 10.1093/hmg/ddv511
By:
- Ek, Weronica E.;
- Hedman, Åsa K.;
- Enroth, Stefan;
- Morris, Andrew P.;
- Lindgren, Cecilia M.;
- Mahajan, Anubha;
- Gustafsson, Stefan;
- Gyllensten, Ulf;
- Lind, Lars;
- Johansson, Åsa
Publication type:
Article
The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6-/- shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 740, doi. 10.1093/hmg/ddv514
By:
- Conte, Daniele;
- Garaffo, Giulia;
- Iacono, Nadia Lo;
- Mantero, Stefano;
- Piccolo, Stefano;
- Cordenonsi, Michelangelo;
- Perez-Morga, David;
- Orecchia, Valeria;
- Poli, Valeria;
- Merlo, Giorgio R.
Publication type:
Article
Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 651, doi. 10.1093/hmg/ddv502
By:
- Chow, Clement Y.;
- Kelsey, Keegan J. P.;
- Wolfner, Mariana F.;
- Clark, Andrew G.
Publication type:
Article
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 777, doi. 10.1093/hmg/ddv615
By:
- Brandenstein, Laura;
- Schweizer, Michaela;
- Sedlacik, Jan;
- Fiehler, Jens;
- Storch, Stephan
Publication type:
Article
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 693, doi. 10.1093/hmg/ddv507
By:
- Blassberg, Robert;
- Macrae, James I.;
- Briscoe, James;
- Jacob, John
Publication type:
Article
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 681, doi. 10.1093/hmg/ddv505
By:
- Bharadwaj, Rajnish;
- Cunningham, Kathleen M.;
- Ke Zhang;
- Lloyd, Thomas E.
Publication type:
Article
Whole chromosome aneuploidy in the brain of Bub1bH/H and Ercc1-/Δ7 mice.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 4, p. 755, doi. 10.1093/hmg/ddv612
By:
- Andriani, Grasiella A.;
- Faggioli, Francesca;
- Baker, Darren;
- Dollé, Martijn E. T.;
- Sellers, Rani S.;
- Hébert, Jean M.;
- Van Steeg, Harry;
- Hoeijmakers, Jan;
- Vijg, Jan;
- Montagna, Cristina
Publication type:
Article

Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 4

Hypothermia improves disease manifestations in SMA mice via SMN augmentation.

Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

Genome-wide association study of dental caries in the Hispanic Communities Health Study/Study of Latinos (HCHS/SOL).

Deletion of the miR-379/miR-410 gene cluster at the imprinted Dlk1-Dio3 locus enhances anxiety-related behaviour.

PARK2 enhancement is able to compensate mitophagy alterations found in sporadic Alzheimer's disease.

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.

Synphilin-1 attenuates mutant LRRK2-induced neurodegeneration in Parkinson's disease models.

Tissue-specific modulation of mitochondrial DNA segregation by a defect in mitochondrial division.

Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis.

Chronic gastroesophageal reflux disease shares genetic background with esophageal adenocarcinoma and Barrett's esophagus.

Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15.

The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6<sup>-/-</sup> shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand.

Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila.

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.

Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.

Whole chromosome aneuploidy in the brain of Bub1b<sup>H/H</sup> and Ercc1<sup>-/Δ7</sup> mice.