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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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