Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 8

Results: 18

CORRIGENDUM.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1597, doi. 10.1093/hmg/ddx129
Publication type:
Article
Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1584, doi. 10.1093/hmg/ddx053
By:
- Farahi, Neda;
- Paige, Ellie;
- Balla, Jozef;
- Prudence, Emily;
- Ferreira, Ricardo C.;
- Southwood, Mark;
- Appleby, Sarah L.;
- Bakke, Per;
- Gulsvik, Amund;
- Litonjua, Augusto A.;
- Sparrow, David;
- Silverman, Edwin K.;
- Cho, Michael H.;
- Danesh, John;
- Paul, Dirk S.;
- Freitag, Daniel F.;
- Chilvers, Edwin R.
Publication type:
Article
Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1577, doi. 10.1093/hmg/ddx045
By:
- Zezhang Zhu;
- Leilei Xu;
- Nelson Leung-Sang Tang;
- Xiaodong Qin;
- Zhenhua Feng;
- Weixiang Sun;
- Weiguo Zhu;
- Benlong Shi;
- Peng Liu;
- Saihu Mao;
- Jun Qiao;
- Zhen Liu;
- Xu Sun;
- Fangcai Li;
- Jack Chun-Yiu Cheng;
- Yong Qiu
Publication type:
Article
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1565, doi. 10.1093/hmg/ddx067
By:
- Blouin, Jean-Marc;
- Bernardo-Seisdedos, Ganeko;
- Sasso, Emma;
- Esteve, Julie;
- Ged, Cécile;
- Lalanne, Magalie;
- Sanz-Parra, Arantza;
- Urquiza, Pedro;
- de Verneuil, Hubert;
- Millet, Oscar;
- Richard, Emmanuel
Publication type:
Article
Remodelling of microRNAs in colorectal cancer by hypoxia alters metabolism profiles and 5-fluorouracil resistance.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1552, doi. 10.1093/hmg/ddx059
By:
- Nijhuis, Anke;
- Thompson, Hannah;
- Adam, Julie;
- Parker, Alexandra;
- Gammon, Luke;
- Lewis, Amy;
- Bundy, Jacob G.;
- Soga, Tomoyoshi;
- Jalaly, Aisha;
- Propper, David;
- Jeffery, Rosemary;
- Suraweera, Nirosha;
- McDonald, Sarah;
- Thaha, Mohamed A.;
- Feakins, Roger;
- Lowe, Robert;
- Bishop, Cleo L.;
- Silver, Andrew
Publication type:
Article
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1535, doi. 10.1093/hmg/ddx058
By:
- Roca, Carles;
- Motas, Sandra;
- Marcó, Sara;
- Ribera, Albert;
- Sánchez, Víctor;
- Sánchez, Xavier;
- Bertolin, Joan;
- León, Xavier;
- Pérez, Jennifer;
- Garcia, Miguel;
- Villacampa, Pilar;
- Ruberte, Jesús;
- Pujol, Anna;
- Haurigot, Virginia;
- Bosch, Fatima
Publication type:
Article
DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1522, doi. 10.1093/hmg/ddx057
By:
- Smets, Martha;
- Link, Stephanie;
- Wolf, Patricia;
- Schneider, Katrin;
- Solis, Veronica;
- Ryan, Joel;
- Meilinger, Daniela;
- Weihua Qin;
- Leonhardt, Heinrich
Publication type:
Article
Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1511, doi. 10.1093/hmg/ddx055
By:
- Fröhlich, Henning;
- Rafiullah, Rafiullah;
- Schmitt, Nathalie;
- Abele, Sonja;
- Rappold, Gudrun A.
Publication type:
Article
Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1497, doi. 10.1093/hmg/ddx054
By:
- Rzepnikowska, Weronika;
- Flis, Krzysztof;
- Kaminska, Joanna;
- Grynberg, Marcin;
- Urbanek, Agnieszka;
- Ayscough, Kathryn R.;
- Zoladek, Teresa
Publication type:
Article
Mitochondria-targeted small molecule SS31: a potential candidate for the treatment of Alzheimer's disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1483, doi. 10.1093/hmg/ddx052
By:
- Reddy, P. Hemachandra;
- Manczak, Maria;
- Kandimalla, Ramesh
Publication type:
Article
Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1472, doi. 10.1093/hmg/ddx051
By:
- Li, Airong;
- Hooli, Basavaraj;
- Mullin, Kristina;
- Tate, Rebecca E.;
- Bubnys, Adele;
- Kirchner, Rory;
- Chapman, Brad;
- Hofmann, Oliver;
- Hide, Winston;
- Tanzi, Rudolph E.
Publication type:
Article
Downstream targets of GWAS-detected genes for breast, lung, and prostate and colon cancer converge to G1/S transition pathway.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1465, doi. 10.1093/hmg/ddx050
By:
- Gorlova, Olga Y.;
- Demidenko, Eugene I.;
- Amos, Christopher I.;
- Gorlov, Ivan P.
Publication type:
Article
PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1458, doi. 10.1093/hmg/ddx048
By:
- Doe, Jinger;
- Kaindl, Angela M.;
- Jijiwa, Mayumi;
- de la Vega, Michelle;
- Hao Hu;
- Griffiths, Genevieve S.;
- Fontelonga, Tatiana M.;
- Barraza, Pamela;
- Cruz, Vivian;
- Van Ry, Pam;
- Ramos, Joe W.;
- Burkin, Dean J.;
- Matter, Michelle L.
Publication type:
Article
Mutations in MSH5 in primary ovarian insufficiency.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1452, doi. 10.1093/hmg/ddx044
By:
- Ting Guo;
- Shidou Zhao;
- Shigang Zhao;
- Min Chen;
- Guangyu Li;
- Xue Jiao;
- Zhao Wang;
- Yueran Zhao;
- Yingying Qin;
- Fei Gao;
- Zi-Jiang Chen
Publication type:
Article
Conditional eQTL analysis reveals allelic heterogeneity of gene expression.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1444, doi. 10.1093/hmg/ddx043
By:
- Jansen, Rick;
- Hottenga, Jouke-Jan;
- Nivard, Michel G.;
- Abdellaoui, Abdel;
- Laport, Bram;
- de Geus, Eco J.;
- Wright, Fred A.;
- Penninx, Brenda W. J. H.;
- Boomsma, Dorret I.
Publication type:
Article
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1432, doi. 10.1093/hmg/ddx042
By:
- Cooper, Helen M.;
- Yang Yang;
- Ylikallio, Emil;
- Khairullin, Rafil;
- Woldegebriel, Rosa;
- Kai-Lan Lin;
- Euro, Liliya;
- Palin, Eino;
- Wolf, Alexander;
- Trokovic, Ras;
- Isohanni, Pirjo;
- Kaakkola, Seppo;
- Auranen, Mari;
- Lönnqvist, Tuula;
- Wanrooij, Sjoerd;
- Tyynismaa, Henna
Publication type:
Article
Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1419, doi. 10.1093/hmg/ddx039
By:
- Sutton, Joanna R.;
- Blount, Jessica R.;
- Libohova, Kozeta;
- Wei-Ling Tsou;
- Joshi, Gnanada S.;
- Paulson, Henry L.;
- Costa, Maria do Carmo;
- Scaglione, K. Matthew;
- Todi, Sokol V.
Publication type:
Article
Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1407, doi. 10.1093/hmg/ddx035
By:
- Russo, Arianna;
- Scardigli, Raffaella;
- Regina, Federico La;
- Murray, Melissa E.;
- Romano, Nicla;
- Dickson, Dennis W.;
- Wolozin, Benjamin;
- Cattaneo, Antonino;
- Ceci, Marcello
Publication type:
Article