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

Results: 18

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

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

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

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

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

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

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.

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

FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.