Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 4

Results: 15

A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 554, doi. 10.1093/hmg/ddz256

By:

Marsman, Judith;
Gimenez, Gregory;
Day, Robert C;
Horsfield, Julia A;
Jones, Gregory T

Publication type:

Article

Corrigendum to: Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 703, doi. 10.1093/hmg/ddz313

By:

Farg, Manal A;
Soo, Kai Y;
Warraich, Sadaf T;
Sundaramoorthy, Vinod;
Blair, Ian P;
Atkin, Julie D

Publication type:

Article

A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 635, doi. 10.1093/hmg/ddz318

By:

Dziurdzik, Samantha K;
Bean, Björn D M;
Davey, Michael;
Conibear, Elizabeth

Publication type:

Article

Environmental enrichment during the chronic phase after experimental stroke promotes functional recovery without synergistic effects of EphA4 targeted therapy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 605, doi. 10.1093/hmg/ddz288

By:

Boer, Antina de;
Storm, Annet;
Gomez-Soler, Maricel;
Smolders, Silke;
Rué, Laura;
Poppe, Lindsay;
Pasquale, Elena B;
Robberecht, Wim;
Lemmens, Robin

Publication type:

Article

The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 591, doi. 10.1093/hmg/ddz278

By:

Dash, Soma;
Brastrom, Lindy K;
Patel, Shaili D;
Scott, C Anthony;
Slusarski, Diane C;
Lachke, Salil A

Publication type:

Article

Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46<sup>−/−</sup> mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 649, doi. 10.1093/hmg/ddz277

By:

Yang, Li;
Slone, Jesse;
Li, Zhuo;
Lou, Xiaoting;
Hu, Yueh-Chiang;
Queme, Luis F;
Jankowski, Michael P;
Huang, Taosheng

Publication type:

Article

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 618, doi. 10.1093/hmg/ddz303

By:

Ansar, Muhammad;
Ranza, Emmanuelle;
Shetty, Madhur;
Paracha, Sohail A;
Azam, Maleeha;
Kern, Ilse;
Iwaszkiewicz, Justyna;
Farooq, Omer;
Pournaras, Constantin J;
Malcles, Ariane;
Kecik, Mateusz;
Rivolta, Carlo;
Muzaffar, Waqar;
Qurban, Aziz;
Ali, Liaqat;
Aggoun, Yacine;
Santoni, Federico A;
Makrythanasis, Periklis;
Ahmed, Jawad;
Qamar, Raheel

Publication type:

Article

Prediagnostic breast milk DNA methylation alterations in women who develop breast cancer.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 662, doi. 10.1093/hmg/ddz301

By:

Salas, Lucas A;
Lundgren, Sara N;
Browne, Eva P;
Punska, Elizabeth C;
Anderton, Douglas L;
Karagas, Margaret R;
Arcaro, Kathleen F;
Christensen, Brock C

Publication type:

Article

Insights into the genetic basis of retinal detachment.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 689, doi. 10.1093/hmg/ddz294

By:

Boutin, Thibaud S;
Charteris, David G;
Chandra, Aman;
Campbell, Susan;
Hayward, Caroline;
Campbell, Archie;
Consortium, UK Biobank Eye & Vision;
Nandakumar, Priyanka;
Hinds, David;
Team, 23andMe Research;
Mitry, Danny;
Vitart, Veronique

Publication type:

Article

Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 624, doi. 10.1093/hmg/ddz280

By:

Kuang, Lisha;
Hashimoto, Kei;
Huang, Eric J;
Gentry, Matthew S;
Zhu, Haining

Publication type:

Article

Sigma-1 receptor is a key genetic modulator in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 529, doi. 10.1093/hmg/ddz267

By:

Couly, Simon;
Khalil, Bilal;
Viguier, Véronique;
Roussel, Julien;
Maurice, Tangui;
Liévens, Jean-Charles

Publication type:

Article

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 541, doi. 10.1093/hmg/ddz251

By:

Yang, Xue;
Bayat, Vafa;
DiDonato, Nataliya;
Zhao, Yang;
Zarnegar, Brian;
Siprashvili, Zurab;
Lopez-Pajares, Vanessa;
Sun, Tao;
Tao, Shiying;
Li, Chenjian;
Rump, Andreas;
Khavari, Paul;
Lu, Bingwei

Publication type:

Article

G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 580, doi. 10.1093/hmg/ddz271

By:

Arbez, Nicolas;
He, XiaoFei;
Huang, Yong;
Ren, Mark;
Liang, Yideng;
Nucifora, Frederick C;
Wang, Xiaofang;
Pei, Zhong;
Tessarolo, Lino;
Smith, Wanli W;
Ross, Christopher A

Publication type:

Article

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 566, doi. 10.1093/hmg/ddz270

By:

Chapman, Gavin;
Moreau, Julie L M;
P, Eddie I;
Szot, Justin O;
Iyer, Kavitha R;
Shi, Hongjun;
Yam, Michelle X;
O'Reilly, Victoria C;
Enriquez, Annabelle;
Greasby, Joelene A;
Alankarage, Dimuthu;
Martin, Ella M M A;
Hanna, Bernadette C;
Edwards, Matthew;
Monger, Steven;
Blue, Gillian M;
Winlaw, David S;
Ritchie, Helen E;
Grieve, Stuart M;
Giannoulatou, Eleni

Publication type:

Article

Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 4, p. 674, doi. 10.1093/hmg/ddaa001

By:

Chongtham, Anjalika;
Bornemann, Douglas J;
Barbaro, Brett A;
Lukacsovich, Tamas;
Agrawal, Namita;
Syed, Adeela;
Worthge, Shane;
Purcell, Judith;
Burke, John;
Chin, Theodore M;
Marsh, J Lawrence

Publication type:

Article