Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 4

Results: 16

FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 650, doi. 10.1093/hmg/ddy375

By:

Goold, Robert;
Flower, Michael;
Moss, Davina Hensman;
Medway, Chris;
Wood-Kaczmar, Alison;
Andre, Ralph;
Farshim, Pamela;
Bates, Gill P;
Holmans, Peter;
Jones, Lesley;
Tabrizi, Sarah J

Publication type:

Article

Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 675, doi. 10.1093/hmg/ddy387

By:

Wang, Heming;
Cade, Brian E;
Sofer, Tamar;
Sands, Scott A;
Chen, Han;
Browning, Sharon R;
Stilp, Adrienne M;
Louie, Tin L;
Thornton, Timothy A;
Johnson, W Craig;
Below, Jennifer E;
Conomos, Matthew P;
Evans, Daniel S;
Gharib, Sina A;
Guo, Xiuqing;
Wood, Alexis C;
Mei, Hao;
Yaffe, Kristine;
Loredo, Jose S;
Ramos, Alberto R

Publication type:

Article

fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 699, doi. 10.1093/hmg/ddy377

By:

Yin, HaiFang;
Moulton, Hong M;
Betts, Corinne;
Seow, Yiqi;
Boutilier, Jordan;
Iverson, Patrick L;
Wood, Matthew J A

Publication type:

Article

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 698, doi. 10.1093/hmg/ddy362

By:

Hogan, Alison L;
Don, Emily K;
Rayner, Stephanie L;
Lee, Albert;
Laird, Angela S;
Watchon, Maxinne;
Winnick, Claire;
Tarr, Ingrid S;
Morsch, Marco;
Fifita, Jennifer A;
Gwee, Serene S L;
Formella, Isabel;
Hortle, Elinor;
Yuan, Kristy C;
Molloy, Mark P;
Williams, Kelly L;
Nicholson, Garth A;
Chung, Roger S;
Blair, Ian P;
Cole, Nicholas J

Publication type:

Article

epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 584, doi. 10.1093/hmg/ddy370

By:

Finelli, Mattéa J;
Aprile, Davide;
Castroflorio, Enrico;
Jeans, Alexander;
Moschetta, Matteo;
Chessum, Lauren;
Degiacomi, Matteo T;
Grasegger, Julia;
Lupien-Meilleur, Alexis;
Bassett, Andrew;
Rossignol, Elsa;
Campeau, Philippe M;
Bowl, Michael R;
Benfenati, Fabio;
Fassio, Anna;
Oliver, Peter L

Publication type:

Article

CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 561, doi. 10.1093/hmg/ddy367

By:

Tu, Zhuchi;
Zhao, Hui;
Li, Bang;
Yan, Sen;
Wang, Lu;
Tang, Yongjin;
Li, Zhujun;
Bai, Dazhang;
Li, Caijuan;
Lin, Yingqi;
Li, Yuefeng;
Liu, Jianrong;
Xu, Hao;
Guo, Xiangyu;
Jiang, Yong-hui;
Zhang, Yong Q;
Li, Xiao-Jiang

Publication type:

Article

Causal effects of blood lipids on amyotrophic lateral sclerosis: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 688, doi. 10.1093/hmg/ddy384

By:

Zeng, Ping;
Zhou, Xiang

Publication type:

Article

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 628, doi. 10.1093/hmg/ddy369

By:

Jones, Frances E;
Murray, Lydia S;
McNeilly, Sarah;
Dean, Afshan;
Aman, Alisha;
Lu, Yinhui;
Nikolova, Nija;
Malomgré, Ruben;
Horsburgh, Karen;
Holmes, William M;
Kadler, Karl E;
Agtmael, Tom Van

Publication type:

Article

Ubiquitin specific protease-13 independently regulates parkin ubiquitination and alpha-synuclein clearance in alpha-synucleinopathies.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 548, doi. 10.1093/hmg/ddy365

By:

Liu, Xiaoguang;
Hebron, Michaeline;
Shi, Wangke;
Lonskaya, Irina;
Moussa, Charbel E-H

Publication type:

Article

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 539, doi. 10.1093/hmg/ddy358

By:

Yang, Nan;
Wu, Nan;
Zhang, Ling;
Zhao, Yanxue;
Liu, Jiaqi;
Liang, Xiangyu;
Ren, Xiaojun;
Li, Weiyu;
Chen, Weisheng;
Dong, Shuangshuang;
Zhao, Sen;
Lin, Jiachen;
Xiang, Hang;
Xue, Huadan;
Chen, Lu;
Sun, Hao;
Zhang, Jianguo;
Shi, Jiangang;
Zhang, Shuyang;
Lu, Daru

Publication type:

Article

Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 615, doi. 10.1093/hmg/ddy352

By:

Krols, Michiel;
Asselbergh, Bob;
Rycke, Riet De;
Winter, Vicky De;
Seyer, Alexandre;
Müller, Franz-Josef;
Kurth, Ingo;
Bultynck, Geert;
Timmerman, Vincent;
Janssens, Sophie

Publication type:

Article

recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 598, doi. 10.1093/hmg/ddy371

By:

Khayat, Wujood;
Hackett, Anna;
Shaw, Marie;
Ilie, Alina;
Dudding-Byth, Tracy;
Kalscheuer, Vera M;
Christie, Louise;
Corbett, Mark A;
Juusola, Jane;
Friend, Kathryn L;
Kirmse, Brian M;
Gecz, Jozef;
Field, Michael;
Orlowski, John

Publication type:

Article

proteasome-resistant fragment of NIK mediates oncogenic NF- κ B signaling in schwannomas.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 572, doi. 10.1093/hmg/ddy361

By:

Gehlhausen, Jeffrey R;
Hawley, Eric;
Wahle, Benjamin Mark;
He, Yongzheng;
Edwards, Donna;
Rhodes, Steven D;
Lajiness, Jacquelyn D;
Staser, Karl;
Chen, Shi;
Yang, Xianlin;
Yuan, Jin;
Li, Xiaohong;
Jiang, Li;
Smith, Abbi;
Bessler, Waylan;
Sandusky, George;
Stemmer-Rachamimov, Anat;
Stuhlmiller, Timothy J;
Angus, Steven P;
Johnson, Gary L

Publication type:

Article

Identification of the novel Ido1 imprinted locus and its potential epigenetic role in pregnancy loss.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 662, doi. 10.1093/hmg/ddy383

By:

Spinelli, Philip;
Latchney, Sarah E;
Reed, Jasmine M;
Fields, Ashley;
Baier, Brian S;
Lu, Xiang;
McCall, Matthew N;
Murphy, Shawn P;
Mak, Winifred;
Susiarjo, Martha

Publication type:

Article

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 525, doi. 10.1093/hmg/ddy344

By:

Williams, Katie B;
Brigatti, Karlla W;
Puffenberger, Erik G;
Gonzaga-Jauregui, Claudia;
Griffin, Laurie B;
Martinez, Erick D;
Wenger, Olivia K;
Yoder, Mark A;
Kandula, Vinay V R;
Fox, Michael D;
Demczko, Matthew M;
Poskitt, Laura;
Furuya, Katryn N;
Reid, Jeffrey G;
Overton, John D;
Baras, Aris;
Miles, Lili;
Radhakrishnan, Kadakkal;
Carson, Vincent J;
Antonellis, Anthony

Publication type:

Article

variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 639, doi. 10.1093/hmg/ddy374

By:

Jackson, Christopher B;
Huemer, Martina;
Bolognini, Ramona;
Martin, Franck;
Szinnai, Gabor;
Donner, Birgit C;
Richter, Uwe;
Battersby, Brendan J;
Nuoffer, Jean-Marc;
Suomalainen, Anu;
Schaller, André

Publication type:

Article