Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 4

Results: 14

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 716, doi. 10.1093/hmg/ddx437

By:

de Greef, Jessica C.;
Krom, Yvonne D.;
den Hamer, Bianca;
Snider, Lauren;
Hiramuki, Yosuke;
van den Akker, Rob F. P.;
Breslin, Kelsey;
Pakusch, Miha;
Salvatori, Daniela C. F.;
Slutter, Bram;
Tawil, Rabi;
Blewitt, Marnie E.;
Tapscott, Stephen J.;
van der Maarel, Silvere M.

Publication type:

Article

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 706, doi. 10.1093/hmg/ddx436

By:

Brockmann, Sarah J.;
Freischmidt, Axel;
Oeckl, Patrick;
Müller, Kathrin;
Ponna, Srinivas K.;
Helferich, Anika M.;
Paone, Christoph;
Reinders, Jörg;
Kojer, Kerstin;
Orth, Michael;
Jokela, Manu;
Auranen, Mari;
Udd, Bjarne;
Hermann, Andreas;
Danzer, Karin M.;
Lichtner, Peter;
Walther, Paul;
Ludolph, Albert C.;
Andersen, Peter M.;
Otto, Markus

Publication type:

Article

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435

By:

Toro, Camilo;
Hori, Roderick T.;
Malicdan, May Christine V.;
Tifft, Cynthia J.;
Goldstein, Amy;
Gahl, William A.;
Adams, David R.;
Harper, Fauni;
Wolfe, Lynne A.;
Jianfeng Xiao;
Khan, Mohammad M.;
Tian, Jun;
Hope, Kevin A.;
Reiter, Lawrence T.;
Tremblay, Michel G.;
Moss, Tom;
Franks, Alexis L.;
Balak, Chris;
LeDoux, Mark S.

Publication type:

Article

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 614, doi. 10.1093/hmg/ddx428

By:

Hubshman, Monika Weisz;
Broekman, Sanne;
van Wijk, Erwin;
Cremers, Frans;
Abu-Diab, Alaa;
Khateb, Samer;
Tzur, Shay;
Lagovsky, Irina;
Smirin-Yosef, Pola;
Sharon, Dror;
Haer-Wigman, Lonneke;
Banin, Eyal;
Basel-Vanagaite, Lina;
de Vrieze, Erik

Publication type:

Article

Selective vulnerability in neuronal populations in nmd/SMARD1 mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 679, doi. 10.1093/hmg/ddx434

By:

Villalón, Eric;
Shababi, Monir;
Kline, Rachel;
Lorson, Zachary C.;
Florea, Kyra M.;
Lorson, Christian L.

Publication type:

Article

Systematic genetic interaction studies identify histone demethylase Utx as potential target for ameliorating Huntington's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 649, doi. 10.1093/hmg/ddx432

By:

Wan Song;
Zsindely, Nóra;
Farago, Anikó;
Marsh, J. Lawrence;
Bodai, László

Publication type:

Article

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426

By:

Piard, Juliette;
Jia-Hua Hu;
Campeau, Philippe M.;
Rzońca, Sylwia;
Van Esch, Hilde;
Vincent, Elizabeth;
Mei Han;
Rossignol, Elsa;
Castaneda, Jennifer;
Chelly, Jamel;
Skinner, Cindy;
Kalscheuer, Vera M.;
Ruihua Wang;
Lemyre, Emmanuelle;
Kosińska, Joanna;
Stawinski, Piotr;
Bal, Jerzy;
Hoffman, Dax A.;
Schwartz, Charles E.;
Van Maldergem, Lionel

Publication type:

Article

Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1<sup>D286G</sup> nemaline myopathy mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 638, doi. 10.1093/hmg/ddx431

By:

Tinklenberg, Jennifer A.;
Siebers, Emily M.;
Beatka, Margaret J.;
Hui Meng;
Lin Yang;
Zizhao Zhang;
Ross, Jacob A.;
Ochala, Julien;
Morris, Carl;
Owens, Jane M.;
Laing, Nigel G.;
Nowak, Kristen J.;
Lawlor, Michael W.

Publication type:

Article

Dietary intervention rescues myopathy associated with neurofibromatosis type 1.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 577, doi. 10.1093/hmg/ddx423

By:

Summers, Matthew A.;
Rupasinghe, Thusitha;
Vasiljevski, Emily R.;
Evesson, Frances J.;
Mikulec, Kathy;
Peacock, Lauren;
Quinlan, Kate G. R.;
Cooper, Sandra T.;
Roessner, Ute;
Stevenson, David A.;
Little, David G.;
Schindeler, Aaron

Publication type:

Article

Cereblon suppresses the formation of pathogenic protein aggregates in a p62-dependent manner.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 667, doi. 10.1093/hmg/ddx433

By:

Liang Zhou;
Zongbing Hao;
Guanghui Wang;
Guoqiang Xu

Publication type:

Article

Inhibition of antigen presentation during AAV gene therapy using virus peptides.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 601, doi. 10.1093/hmg/ddx427

By:

Wenwei Shao;
Xiaojing Chen;
Samulski, Richard J.;
Hirsch, Matthew L.;
Chengwen Li

Publication type:

Article

Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 732, doi. 10.1093/hmg/ddx424

By:

Viñuela, Ana;
Brown, Andrew A.;
Buil, Alfonso;
Pei-Chien Tsai;
Davies, Matthew N.;
Bell, Jordana T.;
Dermitzakis, Emmanouil T.;
Spector, Timothy D.;
Small, Kerrin S.

Publication type:

Article

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 625, doi. 10.1093/hmg/ddx430

By:

Xiao-Meng Yin;
Jing-Han Lin;
Li Cao;
Tong-Mei Zhang;
Sheng Zeng;
Kai-Lin Zhang;
Wo-Tu Tian;
Zheng-Mao Hu;
Nan Li;
Jun-Ling Wang;
Ji-Feng Guo;
Ruo-Xi Wang;
Kun Xia;
Zhuo-Hua Zhang;
Fei Yin;
Jing Peng;
Wei-Ping Liao;
Yong-Hong Yi;
Jing-Yu Liu;
Zhi-Xian Yang

Publication type:

Article

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 742, doi. 10.1093/hmg/ddx429

By:

Beaumont, Robin N.;
Warrington, Nicole M.;
Cavadino, Alana;
Tyrrell, Jessica;
Nodzenski, Michael;
Momoko Horikoshi;
Geller, Frank;
Myhre, Ronny;
Richmond, Rebecca C.;
Paternoster, Lavinia;
Bradfield, Jonathan P.;
Kreiner-Møller, Eskil;
Huikari, Ville;
Metrustry, Sarah;
Lunetta, Kathryn L.;
Painter, Jodie N.;
Hottenga, Jouke-Jan;
Allard, Catherine;
Barton, Sheila J.;
Espinosa, Ana

Publication type:

Article