Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 15

Results: 7

Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 15, p. 1457, doi. 10.1093/hmg/ddab114

By:

Lillo, Antonella De;
D'Antona, Salvatore;
Pathak, Gita A;
Wendt, Frank R;
Angelis, Flavio De;
Fuciarelli, Maria;
Polimanti, Renato

Publication type:

Article

Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 15, p. 1398, doi. 10.1093/hmg/ddab136

By:

Lu-Nguyen, Ngoc;
Malerba, Alberto;
Herath, Shan;
Dickson, George;
Popplewell, Linda

Publication type:

Article

Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 15, p. 1384, doi. 10.1093/hmg/ddab127

By:

Shiba, Mikio;
Higo, Shuichiro;
Kondo, Takumi;
Li, Junjun;
Liu, Li;
Ikeda, Yoshihiko;
Kohama, Yasuaki;
Kameda, Satoshi;
Tabata, Tomoka;
Inoue, Hiroyuki;
Nakamura, Satoki;
Takeda, Maki;
Ito, Emiko;
Takashima, Seiji;
Miyagawa, Shigeru;
Sawa, Yoshiki;
Hikoso, Shungo;
Sakata, Yasushi

Publication type:

Article

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 15, p. 1413, doi. 10.1093/hmg/ddab131

By:

Durán, Mónica;
Burballa, Carla;
Cantero-Recasens, Gerard;
Butnaru, Cristian M;
Malhotra, Vivek;
Ariceta, Gema;
Sarró, Eduard;
Meseguer, Anna

Publication type:

Article

Allele-specific variation at APOE increases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer's disease and myocardial infarction.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 15, p. 1443, doi. 10.1093/hmg/ddab096

By:

Palmer, Nicholette D;
Kahali, Bratati;
Kuppa, Annapurna;
Chen, Yanhua;
Du, Xiaomeng;
Feitosa, Mary F;
Bielak, Lawrence F;
O'Connell, Jeffrey R;
Musani, Solomon K;
Guo, Xiuqing;
Smith, Albert V;
Ryan, Kathleen A;
Eirksdottir, Gudny;
Allison, Matthew A;
Bowden, Donald W;
Budoff, Matthew J;
Carr, J Jeffrey;
Chen, Yii-Der I;
Taylor, Kent D;
Correa, Adolfo

Publication type:

Article

Comparison of adaptive multiple phenotype association tests using summary statistics in genome-wide association studies.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 15, p. 1371, doi. 10.1093/hmg/ddab126

By:

Sitlani, Colleen M;
Baldassari, Antoine R;
Highland, Heather M;
Hodonsky, Chani J;
McKnight, Barbara;
Avery, Christy L

Publication type:

Article

Modeling gap junction beta 2 gene-related deafness with human iPSC.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 15, p. 1429, doi. 10.1093/hmg/ddab097

By:

Fukunaga, Ichiro;
Oe, Yoko;
Danzaki, Keiko;
Ohta, Sayaka;
Chen, Cheng;
Shirai, Kyoko;
Kawano, Atsushi;
Ikeda, Katsuhisa;
Kamiya, Kazusaku

Publication type:

Article