Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 8

Results: 9

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 698, doi. 10.1093/hmg/ddae007

By:

Wong, Chao-Jen;
Friedman, Seth D;
Snider, Lauren;
Bennett, Sean R;
Jones, Takako I;
Jones, Peter L;
Shaw, Dennis W W;
Blemker, Silvia S;
Riem, Lara;
DuCharme, Olivia;
Lemmers, Richard J F L;
Maarel, Silvère M van der;
Wang, Leo H;
Tawil, Rabi;
Statland, Jeffrey M;
Tapscott, Stephen J

Publication type:

Article

Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 687, doi. 10.1093/hmg/ddae002

By:

Ochs-Balcom, Heather M;
Preus, Leah;
Du, Zhaohui;
Elston, Robert C;
Teerlink, Craig C;
Jia, Guochong;
Guo, Xingyi;
Cai, Qiuyin;
Long, Jirong;
Ping, Jie;
Li, Bingshan;
Stram, Daniel O;
Shu, Xiao-Ou;
Sanderson, Maureen;
Gao, Guimin;
Ahearn, Thomas;
Lunetta, Kathryn L;
Zirpoli, Gary;
Troester, Melissa A;
Ruiz-Narváez, Edward A

Publication type:

Article

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 724, doi. 10.1093/hmg/ddae009

By:

Fortuno, Cristina;
Michailidou, Kyriaki;
Parsons, Michael;
Dolinsky, Jill S;
Pesaran, Tina;
Yussuf, Amal;
Mester, Jessica L;
Hruska, Kathleen S;
Hiraki, Susan;
O'Connor, Robert;
Chan, Raymond C;
Kim, Serra;
Tavtigian, Sean V;
Goldgar, David;
James, Paul A;
Spurdle, Amanda B

Publication type:

Article

Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 709, doi. 10.1093/hmg/ddae006

By:

Karas, Brittany F;
Terez, Kristin R;
Mowla, Shorbon;
Battula, Namarata;
Flannery, Kyle P;
Gural, Brian M;
Aboussleman, Grace;
Mubin, Numa;
Manzini, M Chiara

Publication type:

Article

Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 733, doi. 10.1093/hmg/ddad212

By:

Tang, Jingxian;
Xu, Hanfei;
Xin, Zihao;
Mei, Quanshun;
Gao, Musong;
Yang, Tiantian;
Zhang, Xiaoyu;
Levy, Daniel;
Liu, Ching-Ti

Publication type:

Article

Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 667, doi. 10.1093/hmg/ddad211

By:

Li, Yuanyuan;
Xu, Chan;
Zhao, Feng;
Liu, Qinghong;
Qiu, Xiaojian;
Li, Min;
Yang, Yonghui;
Yu, Shentong;
Tong, Huajuan;
Zhang, Lifang;
Chen, Bing;
Qu, Lijuan;
Yu, Zihua

Publication type:

Article

The role of alternative polyadenylation in epithelial-mesenchymal transition of non-small cell lung cancer.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 677, doi. 10.1093/hmg/ddae001

By:

Wu, Sijia;
Qin, Xinyu;
Huang, Liyu

Publication type:

Article

Ancestry-specific high-risk gene variant profiling unmasks diabetes-associated genes.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 655, doi. 10.1093/hmg/ddac255

By:

Zhang, Jianhua;
Chen, Weiping;
Chen, Guanjie;
Flannick, Jason;
Fikse, Emma;
Smerin, Glenda;
Degner, Katherine;
Yang, Yanqin;
Xu, Catherine;
AMP-T2D-GENES, Consortium;
Li, Yulong;
Hanover, John A;
Simonds, William F

Publication type:

Article

Adaptation of the heart to frataxin depletion: evidence that integrated stress response can predominate over mTORC1 activation.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 637, doi. 10.1093/hmg/ddab216

By:

Vásquez-Trincado, César;
Patel, Monika;
Sivaramakrishnan, Aishwarya;
Bekeová, Carmen;
Anderson-Pullinger, Lauren;
Wang, Nadan;
Tang, Hsin-Yao;
Seifert, Erin L

Publication type:

Article