Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 13

Results: 8

ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1230, doi. 10.1093/hmg/ddab116

By:

Lin, Brian C;
Phung, Trong H;
Higgins, Nicole R;
Greenslade, Jessie E;
Prado, Miguel A;
Finley, Daniel;
Karbowski, Mariusz;
Polster, Brian M;
Monteiro, Mervyn J

Publication type:

Article

Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1247, doi. 10.1093/hmg/ddab125

By:

Ma, Yunlong;
Huang, Yukuan;
Zhao, Sen;
Yao, Yinghao;
Zhang, Yaru;
Qu, Jia;
Wu, Nan;
Su, Jianzhong

Publication type:

Article

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1218, doi. 10.1093/hmg/ddab117

By:

Kohl, Susanne;
Llavona, Pablo;
Sauer, Alexandra;
Reuter, Peggy;
Weisschuh, Nicole;
Kempf, Melanie;
Dehmelt, Florian Alexander;
Arrenberg, Aristides B;
Sliesoraityte, Ieva;
Zrenner, Eberhart;
Schooneveld, Mary J van;
Rudolph, Günther;
Kühlewein, Laura;
Wissinger, Bernd

Publication type:

Article

Ancient and modern mitogenomes from Central Argentina: new insights into population continuity, temporal depth and migration in South America.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1200, doi. 10.1093/hmg/ddab105

By:

García, Angelina;
Nores, Rodrigo;
Motti, Josefina M B;
Pauro, Maia;
Luisi, Pierre;
Bravi, Claudio M;
Fabra, Mariana;
Gosling, Anna L;
Kardailsky, Olga;
Boocock, James;
Solé-Morata, Neus;
Matisoo-Smith, Elizabeth A;
Comas, David;
Demarchi, Darío A

Publication type:

Article

The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1188, doi. 10.1093/hmg/ddab086

By:

McMahon, O;
Hallam, T M;
Patel, S;
Harris, C L;
Menny, A;
Zelek, W M;
Widjajahakim, R;
Java, A;
Cox, T E;
Tzoumas, N;
Steel, D H W;
Shuttleworth, V G;
Smith-Jackson, K;
Brocklebank, V;
Griffiths, H;
Cree, A J;
Atkinson, J P;
Lotery, A J;
Bubeck, D;
Morgan, B P

Publication type:

Article

Erratum to: Discoidin Domain Receptor 1 is a therapeutic target for neurodegenerative diseases.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1271, doi. 10.1093/hmg/ddab082

By:

Fowler, Alan J;
Hebron, Michaeline;
Balaraman, Kaluvu;
Shi, Wangke;
Missner, Alexander A;
Greenzaid, Jonathan D;
Chiu, Timothy L;
Ullman, Clementina;
Weatherdon, Ethan;
Duka, Val;
Torres-Yaghi, Yasar;
Pagan, Fernando L;
Liu, Xiaoguang;
Ressom, Habtom;
Ahn, Jaeil;
Wolf, Christian;
Moussa, Charbel

Publication type:

Article

Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1259, doi. 10.1093/hmg/ddab072

By:

Shadrina, Alexandra S;
Zlobin, Alexander S;
Zaytseva, Olga O;
Klarić, Lucija;
Sharapov, Sodbo Z;
Pakhomov, Eugene D;
Perola, Marcus;
Esko, Tonu;
Hayward, Caroline;
Wilson, James F;
Lauc, Gordan;
Aulchenko, Yurii S;
Tsepilov, Yakov A

Publication type:

Article

ADAM10 hyperactivation acts on piccolo to deplete synaptic vesicle stores in Huntington's disease.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 13, p. 1175, doi. 10.1093/hmg/ddab047

By:

Cozzolino, Flora;
Vezzoli, Elena;
Cheroni, Cristina;
Besusso, Dario;
Conforti, Paola;
Valenza, Marta;
Iacobucci, Ilaria;
Monaco, Vittoria;
Birolini, Giulia;
Bombaci, Mauro;
Falqui, Andrea;
Saftig, Paul;
Rossi, Riccardo L;
Monti, Maria;
Cattaneo, Elena;
Zuccato, Chiara

Publication type:

Article