Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 12

Results: 9

Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1067, doi. 10.1093/hmg/ddab104

By:

Adhikari, Anna;
Copping, Nycole A;
Beegle, Julie;
Cameron, David L;
Deng, Peter;
O'Geen, Henriette;
Segal, David J;
Fink, Kyle D;
Silverman, Jill L;
Anderson, Joseph S

Publication type:

Article

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1160, doi. 10.1093/hmg/ddab111

By:

Martinelli, Angela;
Rice, Mabel L;
Talcott, Joel B;
Diaz, Rebeca;
Smith, Shelley;
Raza, Muhammad Hashim;
Snowling, Margaret J;
Hulme, Charles;
Stein, John;
Hayiou-Thomas, Marianna E;
Hawi, Ziarih;
Kent, Lindsey;
Pitt, Samantha J;
Newbury, Dianne F;
Paracchini, Silvia

Publication type:

Article

Corrigendum to: TET2-mediated Cdkn2A DNA hydroxymethylation in midbrain dopaminergic neuron injury of Parkinson's disease.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1172, doi. 10.1093/hmg/ddab069

By:

Wu, Ting-Ting;
Liu, Te;
Li, Xuan;
Chen, Ya-Jing;
Chen, Tian-Jiao;
Zhu, Xiao-Ying;
Chen, Jiu-Lin;
Li, Qing;
Liu, Ye;
Feng, Ya;
Wu, Yun-Cheng

Publication type:

Article

Modeling muscle regeneration in RNA toxicity mice.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1111, doi. 10.1093/hmg/ddab108

By:

Yadava, Ramesh S;
Mandal, Mahua;
Giese, Jack M;
Rigo, Frank;
Bennett, C Frank;
Mahadevan, Mani S

Publication type:

Article

C9orf72-associated arginine-rich dipeptide repeats induce RNA-dependent nuclear accumulation of Staufen in neurons.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1084, doi. 10.1093/hmg/ddab089

By:

Kim, Eun Seon;
Chung, Chang Geon;
Park, Jeong Hyang;
Ko, Byung Su;
Park, Sung Soon;
Kim, Yoon Ha;
Cha, In Jun;
Kim, Jaekwang;
Ha, Chang Man;
Kim, Hyung-Jun;
Lee, Sung Bae

Publication type:

Article

Runs of homozygosity are associated with staging of periodontitis in isolated populations.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1154, doi. 10.1093/hmg/ddab085

By:

Mezzavilla, Massimo;
Navarra, Chiara Ottavia;
Lenarda, Roberto Di;
Gasparini, Paolo;
Bevilacqua, Lorenzo;
Robino, Antonietta

Publication type:

Article

When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein–protein interactions and protein stability.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1131, doi. 10.1093/hmg/ddab010

By:

Fukuzawa, Atsushi;
Koch, Daniel;
Grover, Sarah;
Rees, Martin;
Gautel, Mathias

Publication type:

Article

Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1101, doi. 10.1093/hmg/ddab103

By:

Kocher, Matthew A;
Huang, Fenix W;
Le, Erin;
Good, Deborah J

Publication type:

Article

Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 12, p. 1142, doi. 10.1093/hmg/ddab066

By:

Waller, Rosalie Griffin;
Klein, Robert J;
Vijai, Joseph;
McKay, James D;
Clay-Gilmour, Alyssa;
Wei, Xiaomu;
Madsen, Michael J;
Sborov, Douglas W;
Curtin, Karen;
Slager, Susan L;
Offit, Kenneth;
Vachon, Celine M;
Lipkin, Steven M;
Dumontet, Charles;
Camp, Nicola J

Publication type:

Article