Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 18

Results: 16

Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3037, doi. 10.1093/hmg/ddz113

By:

Fernandez-Jimenez, Nora;
Bilbao, Jose Ramon

Publication type:

Article

Functional muscle recovery following dystrophin and myostatin exon splice modulation in aged mdx mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3091, doi. 10.1093/hmg/ddz125

By:

Lu-Nguyen, Ngoc;
Ferry, Arnaud;
Schnell, Frederick J;
Hanson, Gunnar J;
Popplewell, Linda;
Dickson, George;
Malerba, Alberto

Publication type:

Article

Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage-mediated neuronal apoptosis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3161, doi. 10.1093/hmg/ddz141

By:

Guerrero, Erika N;
Mitra, Joy;
Wang, Haibo;
Rangaswamy, Suganya;
Hegde, Pavana M;
Basu, Priyadarshini;
Rao, K S;
Hegde, Muralidhar L

Publication type:

Article

Mouse model of severe recessive RYR1-related myopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3024, doi. 10.1093/hmg/ddz105

By:

Brennan, Stephanie;
Garcia-Castañeda, Maricela;
Michelucci, Antonio;
Sabha, Nesrin;
Malik, Sundeep;
Groom, Linda;
LaPierre, Lan Wei;
Dowling, James J;
Dirksen, Robert T

Publication type:

Article

Prader–Willi syndrome imprinting centre deletion mice have impaired baseline and 5-HT<sub>2C</sub>R-mediated response inhibition.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3013, doi. 10.1093/hmg/ddz100

By:

Davies, Jennifer R;
Wilkinson, Lawrence S;
Isles, Anthony R;
Humby, Trevor

Publication type:

Article

RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3053, doi. 10.1093/hmg/ddz110

By:

Gardner, Olivia K;
Wang, Lily;
Booven, Derek Van;
Whitehead, Patrice L;
Hamilton-Nelson, Kara L;
Adams, Larry D;
Starks, Takiyah D;
Hofmann, Natalia K;
Vance, Jeffery M;
Cuccaro, Michael L;
Martin, Eden R;
Byrd, Goldie S;
Haines, Jonathan L;
Bush, William S;
Beecham, Gary W;
Pericak-Vance, Margaret A;
Griswold, Anthony J

Publication type:

Article

A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3137, doi. 10.1093/hmg/ddz149

By:

Chatterjee, Sumantra;
Chakravarti, Aravinda

Publication type:

Article

Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3072, doi. 10.1093/hmg/ddz122

By:

Liu, Yang;
Kinoshita, Junzo;
Ivanova, Elena;
Sun, Duo;
Li, Hong;
Liao, Tara;
Cao, Jingtai;
Bell, Brent A;
Wang, Jacob M;
Tang, Yajun;
Brydges, Susannah;
Peachey, Neal S;
Sagdullaev, Botir T;
Romano, Carmelo

Publication type:

Article

Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3000, doi. 10.1093/hmg/ddz096

By:

Eyk, Clare L van;
Samaraweera, Saumya E;
Scott, Andrew;
Webber, Dani L;
Harvey, David P;
Mecinger, Olivia;
O'Keefe, Louise V;
Cropley, Jennifer E;
Young, Paul;
Ho, Joshua;
Suter, Catherine;
Richards, Robert I

Publication type:

Article

Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3126, doi. 10.1093/hmg/ddz143

By:

Chi, Wanhao;
Iyengar, Atulya S R;
Albersen, Monique;
Bosma, Marjolein;
Verhoeven-Duif, Nanda M;
Wu, Chun-Fang;
Zhuang, Xiaoxi

Publication type:

Article

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 2987, doi. 10.1093/hmg/ddz092

By:

Elbaz, Moran;
Ruiz, Alexis;
Bachmann, Christoph;
Eckhardt, Jan;
Pelczar, Pawel;
Venturi, Elisa;
Lindsay, Chris;
Wilson, Abigail D;
Alhussni, Ahmed;
Humberstone, Thomas;
Pietrangelo, Laura;
Boncompagni, Simona;
Sitsapesan, Rebecca;
Treves, Susan;
Zorzato, Francesco

Publication type:

Article

An anti-RANKL treatment reduces muscle inflammation and dysfunction and strengthens bone in dystrophic mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3101, doi. 10.1093/hmg/ddz124

By:

Hamoudi, Dounia;
Marcadet, Laetitia;
Boulanger, Antoine Piette;
Yagita, Hideo;
Bouredji, Zineb;
Argaw, Anteneh;
Frenette, Jérôme

Publication type:

Article

Cdk5 increases MARK4 activity and augments pathological tau accumulation and toxicity through tau phosphorylation at Ser262.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3062, doi. 10.1093/hmg/ddz120

By:

Saito, Taro;
Oba, Toshiya;
Shimizu, Sawako;
Asada, Akiko;
Iijima, Koichi M;
Ando, Kanae

Publication type:

Article

Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3043, doi. 10.1093/hmg/ddz114

By:

Vinje, Terje;
Laerdahl, Jon K;
Bjune, Katrine;
Leren, Trond P;
Strøm, Thea Bismo

Publication type:

Article

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3148, doi. 10.1093/hmg/ddz121

By:

Liyanage, Upekha E;
Law, Matthew H;
Han, Xikun;
An, Jiyuan;
Ong, Jue-Sheng;
Gharahkhani, Puya;
Gordon, Scott;
Neale, Rachel E;
Olsen, Catherine M;
Team, 23andMe Research;
MacGregor, Stuart;
Whiteman, David C

Publication type:

Article

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 18, p. 3113, doi. 10.1093/hmg/ddz137

By:

Whitman, Mary C;
Miyake, Noriko;
Nguyen, Elaine H;
Bell, Jessica L;
Ruiz, Paola M Matos;
Chan, Wai-Man;
Gioia, Silvio Alessandro Di;
Mukherjee, Nisha;
Barry, Brenda J;
Bosley, T M;
Khan, Arif O;
Engle, Elizabeth C

Publication type:

Article