Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 10

Results: 14

Epigenome-wide association in adipose tissue from the METSIM cohort.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1830, doi. 10.1093/hmg/ddy093

By:

Orozco, Luz D.;
Farrell, Colin;
Hale, Christopher;
Rubbi, Liudmilla;
Rinaldi, Arturo;
Civelek, Mete;
Pan, Calvin;
Lam, Larry;
Montoya, Dennis;
Edillor, Chantle;
Seldin, Marcus;
Boehnke, Michael;
Mohlke, Karen L.;
Jacobsen, Steve;
Kuusisto, Johanna;
Laakso, Markku;
Lusis, Aldons J.;
Pellegrini, Matteo

Publication type:

Article

Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1819, doi. 10.1093/hmg/ddy091

By:

Lamontagne, Maxime;
Bérubé, Jean-Christophe;
Obeidat, Ma'en;
Cho, Michael H.;
Hobbs, Brian D.;
Sakornsakolpat, Phuwanat;
Kim de Jong;
Boezen, H. Marike;
Nickle, David;
Ke Hao;
Timens, Wim;
van den Berge, Maarten;
Joubert, Philippe;
Laviolette, Michel;
Sin, Don D.;
Paré, Peter D.;
Bossé, Yohan

Publication type:

Article

The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1794, doi. 10.1093/hmg/ddy095

By:

Yilun Deng;
Yuejuan Qin;
Srikantan, Subramanya;
Anqi Luo;
Zi-Ming Cheng;
Flores, Shahida K.;
Vogel, Kris S.;
Exing Wang;
Dahia, Patricia L. M.

Publication type:

Article

Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1785, doi. 10.1093/hmg/ddy090

By:

Laffranchi, Mattia;
Berardelli, Romina;
Ronzoni, Riccardo;
Lomas, David A.;
Fra, Annamaria

Publication type:

Article

Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1772, doi. 10.1093/hmg/ddy086

By:

Carrera, Lilian A. Martinez;
Gabriel, Elke;
Donohoe, Colin D.;
Hölker, Irmgard;
Mariappan, Aruljothi;
Storbeck, Markus;
Uhlirova, Mirka;
Gopalakrishnan, Jay;
Wirth, Brunhilde

Publication type:

Article

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1743, doi. 10.1093/hmg/ddy080

By:

Peter, Bradley;
Waddington, Christie L.;
2, Monika Oláhová;
Sommerville, Ewen W.;
Hopton, Sila;
Pyle, Angela;
Champion, Michael;
Ohlson, Monica;
Siibak, Triinu;
Chrzanowska-Lightowlers, Zofia M. A.;
Taylor, Robert W.;
Falkenberg, Maria;
Lightowlers, Robert N.

Publication type:

Article

A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1809, doi. 10.1093/hmg/ddy094

By:

Xu Chen;
Gustafsson, Stefan;
Whitington, Thomas;
Borné, Yan;
Lorentzen, Erik;
Jitong Sun;
Almgren, Peter;
Jun Su;
Karlsson, Robert;
Jie Song;
Yi Lu;
Yiqiang Zhan;
Hägg, Sara;
Svensson, Per;
Smedby, Karin E.;
Slager, Susan L.;
Ingelsson, Erik;
Lindgren, Cecilia M.;
Morris, Andrew P.;
Melander, Olle

Publication type:

Article

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1711, doi. 10.1093/hmg/ddy076

By:

Danyukova, Tatyana;
Ariunbat, Khandsuren;
Thelen, Melanie;
Brocke-Ahmadinejad, Nahal;
Mole, Sara E.;
Storch, Stephan

Publication type:

Article

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1675, doi. 10.1093/hmg/ddy074

By:

Hendee, Kathryn E.;
Sorokina, Elena A.;
Muheisen, Sanaa S.;
Reis, Linda M.;
Tyler, Rebecca C.;
Markovic, Vujica;
Cuturilo, Goran;
Link, Brian A.;
Semina, Elena V.

Publication type:

Article

Increased expression of microRNA-15a and microRNA-15b in skeletal muscle from adult offspring of women with diabetes in pregnancy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1763, doi. 10.1093/hmg/ddy085

By:

Houshmand-Oeregaard, Azadeh;
Schrölkamp, Maren;
Kelstrup, Louise;
Hansen, Ninna S.;
Hjort, Line;
Thuesen, Anne Cathrine B.;
Broholm, Christa;
Mathiesen, Elisabeth R.;
Clausen, Tine D.;
Vaag, Allan;
Damm, Peter

Publication type:

Article

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1754, doi. 10.1093/hmg/ddy083

By:

Swaminathan, Amrutha;
Bouffard, Marilou;
Meijiang Liao;
Ryan, Sarah;
Callister, Janis Bennion;
Pickering-Brown, Stuart M.;
Armstrong, Gary Alan Barclay;
Drapeau, Pierre

Publication type:

Article

Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1732, doi. 10.1093/hmg/ddy079

By:

Eichinger, Anna;
Danecka, Marta K.;
Möglich, Tamara;
Borsch, Julia;
Woidy, Mathias;
Büttner, Lars;
Muntau, Ania C.;
Gersting, Søren W.

Publication type:

Article

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1723, doi. 10.1093/hmg/ddy077

By:

Corrochano, Silvia;
Blanco, Gonzalo;
Williams, Debbie;
Wettstein, Jessica;
Simon, Michelle;
Kumar, Saumya;
Moir, Lee;
Agnew, Thomas;
Stewart, Michelle;
Landman, Allison;
Kotiadis, Vassilios N.;
Duchen, Michael R.;
Wackerhage, Henning;
Rubinsztein, David C.;
Brown, Steve D. M.;
Acevedo-Arozena, Abraham

Publication type:

Article

Modulation of β-glucocerebrosidase increases α-synuclein secretion and exosome release in mouse models of Parkinson's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 10, p. 1696, doi. 10.1093/hmg/ddy075

By:

Papadopoulos, Vassilis E.;
Nikolopoulou, Georgia;
Antoniadou, Ivi;
Karachaliou, Antonia;
Arianoglou, Giovanna;
Emmanouilidou, Evangelia;
Sardi, S. Pablo;
Stefanis, Leonidas;
Vekrellis, Kostas

Publication type:

Article