Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 11

Results: 10

The genetic admixture and assimilation of Ahom: a historic migrant from Thailand to India.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 1015, doi. 10.1093/hmg/ddae054

By:

Kumar, Sachin;
Singh, Prajjval Pratap;
Pasupuleti, Nagarjuna;
Tripathy, Veena Mushrif;
Chauley, Milan Kumar;
Chaubey, Gyaneshwer;
Rai, Niraj

Publication type:

Article

Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 991, doi. 10.1093/hmg/ddae035

By:

Öttl, Miriam;
Toonen, Ruud F;
Verhage, Matthijs

Publication type:

Article

Novel signals and polygenic score for height are associated with pubertal growth traits in Southwestern American Indians.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 981, doi. 10.1093/hmg/ddae030

By:

Ramírez-Luzuriaga, Maria J;
Kobes, Sayuko;
Hsueh, Wen-Chi;
Baier, Leslie J;
Hanson, Robert L

Publication type:

Article

Correction to: The genetic admixture and assimilation of Ahom: a historic migrant from Thailand to India.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 11, p. 1021, doi. 10.1093/hmg/ddae074
Publication type:: Article

Correction to: Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 11, p. 1020, doi. 10.1093/hmg/ddae069
Publication type:: Article

m<sup>6</sup>A RNA methylation regulates mitochondrial function.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 969, doi. 10.1093/hmg/ddae029

By:

Kahl, Michael;
Xu, Zhaofa;
Arumugam, Saravanan;
Edens, Brittany;
Fischietti, Mariafausta;
Zhu, Allen C;
Platanias, Leonidas C;
He, Chuan;
Zhuang, Xiaoxi;
Ma, Yongchao C

Publication type:

Article

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 945, doi. 10.1093/hmg/ddae028

By:

Brock, Daniel C;
Wang, Meng;
Hussain, Hafiz Muhammad Jafar;
Rauch, David E;
Marra, Molly;
Pennesi, Mark E;
Yang, Paul;
Everett, Lesley;
Ajlan, Radwan S;
Colbert, Jason;
Porto, Fernanda Belga Ottoni;
Matynia, Anna;
Gorin, Michael B;
Koenekoop, Robert K;
Lopez, Irma;
Sui, Ruifang;
Zou, Gang;
Li, Yumei;
Chen, Rui

Publication type:

Article

Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 1001, doi. 10.1093/hmg/ddae034

By:

Brekke, Ranveig S;
Gravdal, Anny;
Jellas, Khadija El;
Curry, Grace E;
Lin, Jianguo;
Wilhelm, Steven J;
Steine, Solrun J;
Mas, Eric;
Johansson, Stefan;
Lowe, Mark E;
Johansson, Bente B;
Xiao, Xunjun;
Fjeld, Karianne;
Molven, Anders

Publication type:

Article

A multi-ancestry genome-wide association study in type 1 diabetes.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 958, doi. 10.1093/hmg/ddae024

By:

Michalek, Dominika A;
Tern, Courtney;
Zhou, Wei;
Robertson, Catherine C;
Farber, Emily;
Campolieto, Paul;
Chen, Wei-Min;
Onengut-Gumuscu, Suna;
Rich, Stephen S

Publication type:

Article

Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1<sup>G93A</sup>-ALS mouse model.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 11, p. 935, doi. 10.1093/hmg/ddae022

By:

Huang, Tzyy-Nan;
Shih, Yu-Tzu;
Yen, Tzu-Li;
Hsueh, Yi-Ping

Publication type:

Article