Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 3

Results: 16

Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 471, doi. 10.1093/hmg/ddz306

By:

Tiano, Francesca;
Amati, Francesca;
Cherubini, Fabio;
Morini, Elena;
Vancheri, Chiara;
Maletta, Sara;
Fortuni, Silvia;
Serio, Dario;
Quatrana, Andrea;
Luffarelli, Riccardo;
Benini, Monica;
Alfedi, Giulia;
Panarello, Luca;
Rufini, Alessandra;
Toschi, Nicola;
Frontali, Marina;
Romano, Silvia;
Marcotulli, Christian;
Casali, Carlo;
Gioiosa, Silvia

Publication type:

Article

Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 444, doi. 10.1093/hmg/ddz311

By:

Li, Huiping;
Yuan, Shiqin;
Minegishi, Yuriko;
Suga, Akiko;
Yoshitake, Kazutoshi;
Sheng, Xunlun;
Ye, Jianping;
Smith, Stuart;
Bunkoczi, Gabor;
Yamamoto, Megumi;
Iwata, Takeshi

Publication type:

Article

Muscle weakness and selective muscle atrophy in osteoprotegerin-deficient mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 483, doi. 10.1093/hmg/ddz312

By:

Hamoudi, Dounia;
Bouredji, Zineb;
Marcadet, Laetitia;
Yagita, Hideo;
Landry, Louis-Bénédict;
Argaw, Anteneh;
Frenette, Jérôme

Publication type:

Article

Integrating DNA sequencing and transcriptomic data for association analyses of low-frequency variants and lipid traits.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 515, doi. 10.1093/hmg/ddz314

By:

Yang, Tianzhong;
Wu, Chong;
Wei, Peng;
Pan, Wei

Publication type:

Article

Synergistic toxicity between tau and amyloid drives neuronal dysfunction and neurodegeneration in transgenic C. elegans.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 495, doi. 10.1093/hmg/ddz319

By:

Benbow, Sarah J;
Strovas, Timothy J;
Darvas, Martin;
Saxton, Aleen;
Kraemer, Brian C

Publication type:

Article

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 459, doi. 10.1093/hmg/ddz305

By:

Chen, Chun-An;
Pal, Rituraj;
Yin, Jiani;
Tao, Huifang;
Amawi, Abdallah;
Sabo, Aniko;
Bainbridge, Matthew N;
Gibbs, Richard A;
Zoghbi, Huda Y;
Schaaf, Christian P

Publication type:

Article

Enhanced amyloid-β generation by γ-secretase complex in DRM microdomains with reduced cholesterol levels.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 382, doi. 10.1093/hmg/ddz297

By:

Hata, Saori;
Hu, Anqi;
Piao, Yi;
Nakaya, Tadashi;
Taru, Hidenori;
Morishima-Kawashima, Maho;
Murayama, Shigeo;
Nishimura, Masaki;
Suzuki, Toshiharu

Publication type:

Article

Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 528, doi. 10.1093/hmg/ddz257

By:

Peter, Bradley;
Farge, Geraldine;
Pardo-Hernandez, Carlos;
Tångefjord, Stefan;
Falkenberg, Maria

Publication type:

Article

GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 432, doi. 10.1093/hmg/ddz300

By:

Gao, Mingming;
Liu, Lin;
Wang, Xiaowei;
Mak, Hoi Yin;
Liu, George;
Yang, Hongyuan

Publication type:

Article

Mutant huntingtin interacts with the sterol regulatory element-binding proteins and impairs their nuclear import.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 418, doi. 10.1093/hmg/ddz298

By:

Pardo, Alba Di;
Monyror, John;
Morales, Luis Carlos;
Kadam, Vaibhavi;
Lingrell, Susanne;
Maglione, Vittorio;
Wozniak, Richard W;
Sipione, Simonetta

Publication type:

Article

Rhodopsin signaling mediates light-induced photoreceptor cell death in rd10 mice through a transducin-independent mechanism.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 394, doi. 10.1093/hmg/ddz299

By:

Sundar, Jesse C;
Munezero, Daniella;
Bryan-Haring, Caitlyn;
Saravanan, Thamaraiselvi;
Jacques, Angelica;
Ramamurthy, Visvanathan

Publication type:

Article

Progressive cardiac arrhythmias and ECG abnormalities in the Huntington's disease BACHD mouse model.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 369, doi. 10.1093/hmg/ddz295

By:

Zhu, Yujie;
Shamblin, Isaac;
Rodriguez, Efrain;
Salzer, Grace E;
Araysi, Lita;
Margolies, Katherine A;
Halade, Ganesh V;
Litovsky, Silvio H;
Pogwizd, Steven;
Gray, Michelle;
Huke, Sabine

Publication type:

Article

Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 407, doi. 10.1093/hmg/ddz292

By:

Flynn, Mairéad;
Whitton, Laura;
Donohoe, Gary;
Morrison, Ciaran G;
Morris, Derek W

Publication type:

Article

Corrigendum: Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 527, doi. 10.1093/hmg/ddz286

By:

Lodato, Michael A;
Walsh, Christopher A

Publication type:

Article

Refining genome-wide associated loci for serum uric acid in individuals with African ancestry.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 506, doi. 10.1093/hmg/ddz272

By:

Chen, Guanjie;
Shriner, Daniel;
Doumatey, Ayo P;
Zhou, Jie;
Bentley, Amy R;
Lei, Lin;
Adeyemo, Adebowale;
Rotimi, Charles N

Publication type:

Article

Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 3, p. 353, doi. 10.1093/hmg/ddz266

By:

Coles, Chantal A;
Gordon, Lavinia;
Hunt, Liam C;
Webster, Tracie;
Piers, Adam T;
Kintakas, Christopher;
Woodman, Keryn;
Touslon, Su L;
Smythe, Gayle M;
White, Jason D;
Lamandé, Shireen R

Publication type:

Article