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

Results: 8

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
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
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