Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 15

Results: 19

Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2949, doi. 10.1093/hmg/ddx183

By:

Jianshuang Li;
Di Lu;
Huadie Liu;
Williams, Bart O.;
Overbeek, Paul A.;
Brendan Lee;
Ling Zheng;
Tao Yang

Publication type:

Article

Vps35 in cooperation with LRRK2 regulates synaptic vesicle endocytosis through the endosomal pathway in Drosophila.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2933, doi. 10.1093/hmg/ddx179

By:

Tsuyoshi Inoshita;
Taku Arano;
Yuka Hosaka;
Hongrui Meng;
Yujiro Umezaki;
Sakiko Kosugi;
Takako Morimoto;
Masato Koike;
Hui-Yun Chang;
Yuzuru Imai;
Nobutaka Hattori

Publication type:

Article

AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 15, p. 3030, doi. 10.1093/hmg/ddx207
Publication type:: Article

Epigenome-wide analysis of DNA methylation in lung tissue shows concordance with blood studies and identifies tobacco smoke-inducible enhancers.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 3014, doi. 10.1093/hmg/ddx188

By:

Stueve, Theresa Ryan;
Wen-Qing Li;
Jianxin Shi;
Marconett, Crystal N.;
Tongwu Zhang;
Chenchen Yang;
Mullen, Daniel;
Chunli Yan;
Wheeler, William;
Xing Hua;
Beiyun Zhou;
Zea Borok;
Caporaso, Neil E.;
Pesatori, Angela C.;
Duan, Jubao;
Laird-Offringa, Ite A.;
Landi, Maria Teresa

Publication type:

Article

Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2961, doi. 10.1093/hmg/ddx186

By:

Girolimetti, Giulia;
Guerra, Flora;
Iommarini, Luisa;
Kurelac, Ivana;
Vergara, Daniele;
Maffia, Michele;
Vidone, Michele;
Amato, Laura Benedetta;
Leone, Giulia;
Dusi, Sabrina;
Tiranti, Valeria;
Myriam Perrone, Anna;
Bucci, Cecilia;
Porcelli, Anna Maria;
Gasparre, Giuseppe

Publication type:

Article

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2984, doi. 10.1093/hmg/ddx189

By:

Saha, Madhurima;
Mitsuhashi, Satomi;
Jones, Michael D.;
Manko, Kelsey;
Reddy, Hemakumar M.;
Bruels, Christine C.;
Kyung-Ah Cho;
Pacak, Christina A.;
Draper, Isabelle;
Kang, Peter B.

Publication type:

Article

Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2825, doi. 10.1093/hmg/ddx153

By:

Scott-Hewitt, Nicole J.;
Folts, Christopher J.;
Hogestyn, Jessica M.;
Piester, Gavin;
Mayer-Pröschel, Margot;
Noble, Mark D.

Publication type:

Article

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2923, doi. 10.1093/hmg/ddx175

By:

Pinggera, Alexandra;
Mackenroth, Luisa;
Rump, Andreas;
Schallner, Jens;
Beleggia, Filippo;
Wollnik, Bernd;
Striessnig, Jö rg

Publication type:

Article

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2975, doi. 10.1093/hmg/ddx187

By:

Hollstein, Ronja;
Reiz, Benedikt;
Kötter, Lucas;
Richter, Alev;
Schaake, Susen;
Lohmann, Katja;
Kaiser, Frank J.

Publication type:

Article

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2838, doi. 10.1093/hmg/ddx157

By:

Quintana, Anita M.;
Hung-Chun Yu;
Brebner, Alison;
Pupavac, Mihaela;
Geiger, Elizabeth A.;
Watson, Abigail;
Castro, Victoria L.;
Warren Cheung;
Shu-Huang Chen;
Watkins, David;
Pastinen, Tomi;
Skovby, Flemming;
Appel, Bruce;
Rosenblatt, David S.;
Shaikh, Tamim H.

Publication type:

Article

Heteroplasmic shifts in tumor mitochondrial genomes reveal tissue-specific signals of relaxed and positive selection.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2912, doi. 10.1093/hmg/ddx172

By:

Grandhi, Sneha;
Bosworth, Colleen;
Maddox, Wesley;
Sensiba, Cole;
Akhavanfard, Sara;
Ying Ni;
LaFramboise, Thomas

Publication type:

Article

RhoA/ROCK inhibition improves the beneficial effects of glucocorticoid treatment in dystrophic muscle: implications for stem cell depletion.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2813, doi. 10.1093/hmg/ddx117

By:

Xiaodong Mu;
Ying Tang;
Koji Takayama;
Wanqun Chen;
Aiping Lu;
Bing Wang;
Kurt Weiss;
Johnny Huard

Publication type:

Article

The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2897, doi. 10.1093/hmg/ddx171

By:

Gioia, Roberta;
Tonelli, Francesca;
Ceppi, Ilaria;
Biggiogera, Marco;
Leikin, Sergey;
Fisher, Shannon;
Tenedini, Elena;
Yorgan, Timur A.;
Schinke, Thorsten;
Tian, Kun;
Schwartz, Jean-Marc;
Forte, Fabiana;
Wagener, Raimund;
Villani, Simona;
Rossi, Antonio;
Forlino, Antonella

Publication type:

Article

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2882, doi. 10.1093/hmg/ddx170

By:

Farg, Manal A.;
Konopka, Anna;
Kai Ying Soo;
Daisuke Ito;
Atkin, Julie D.

Publication type:

Article

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 15, p. 3028, doi. 10.1093/hmg/ddx131
Publication type:: Article

Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2874, doi. 10.1093/hmg/ddx169

By:

Long, Pamela A.;
Theis, Jeanne L.;
Yu-Huan Shih;
Maleszewski, Joseph J.;
Abell Aleff, Patrice C.;
Evans, Jared M.;
Xiaolei Xu;
Olson, Timothy M.

Publication type:

Article

Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2864, doi. 10.1093/hmg/ddx167

By:

Hayashi, Genki;
Jasoliya, Mittal;
Sahdeo, Sunil;
Saccá, Francesco;
Pane, Chiara;
Filla, Alessandro;
Marsili, Angela;
Puorro, Giorgia;
Lanzillo, Roberta;
Morra, Vincenzo Brescia;
Cortopassi, Gino

Publication type:

Article

Exploring a causal role of DNA methylation in the relationship between maternal vitamin B12 during pregnancy and child's IQ at age 8, cognitive performance and educational attainment: a two-step Mendelian randomization study.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 3001, doi. 10.1093/hmg/ddx164

By:

Caramaschi, Doretta;
Sharp, Gemma C.;
Nohr, Ellen A.;
Berryman, Katie;
Lewis, Sarah J.;
Smith, George Davey;
Relton, Caroline L.

Publication type:

Article

Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2850, doi. 10.1093/hmg/ddx162

By:

Beel, Sander;
Moisse, Matthieu;
Damme, Markus;
De Muynck, Louis;
Robberecht, Wim;
Van Den Bosch, Ludo;
Saftig, Paul;
Van Damme, Philip

Publication type:

Article