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

Results: 16

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
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
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
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
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