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

Results: 9

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
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
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
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
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
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
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
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