Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 13

Results: 14

Correction to: Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 13, p. 2264, doi. 10.1093/hmg/ddad082
Publication type:: Article

Correction to: Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 13, p. 2262, doi. 10.1093/hmg/ddad064
Publication type:: Article

Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2251, doi. 10.1093/hmg/ddad059

By:

Jung, Youngsook L;
Hung, Christina;
Choi, Jaejoon;
Lee, Eunjung A;
Bodamer, Olaf

Publication type:

Article

Impact of the RNA allosteric effect triggered by single nucleotide polymorphisms on the splicing process.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2229, doi. 10.1093/hmg/ddad057

By:

Zhuang, Youyuan;
Lu, Xiaoyan;
Lin, Peng;
Wang, Siyu;
Sheng, Xiaoran;
Chen, Chong;
Zhang, Guosi;
Wang, Zhiyi;
Mei, Changqiu;
Qu, Jia;
Xu, Liangde;
Wang, Hong

Publication type:

Article

Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2205, doi. 10.1093/hmg/ddad056

By:

Xing, Zhuo;
Li, Yichen;
Cortes-Gomez, Eduardo;
Jiang, Xiaoling;
Gao, Shuang;
Pao, Annie;
Shan, Jidong;
Song, Yinghui;
Perez, Amanda;
Yu, Tao;
Highsmith, Max R;
Boadu, Frimpong;
Conroy, Jeffrey M;
Singh, Prashant K;
Bakin, Andrei V;
Cheng, Jianlin;
Duan, Zhijun;
Wang, Jianmin;
Liu, Song;
Tycko, Benjamin

Publication type:

Article

Breast cancer cell-derived exosome-delivered microRNA-155 targets UBQLN1 in adipocytes and facilitates cancer cachexia-related fat loss.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2219, doi. 10.1093/hmg/ddad055

By:

Sun, S;
Wang, Z;
Yao, F;
Sun, K;
Li, Z;
Li, C

Publication type:

Article

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2177, doi. 10.1093/hmg/ddad054

By:

Meyer-Schuman, Rebecca;
Marte, Sheila;
Smith, Tyler J;
Feely, Shawna M E;
Kennerson, Marina;
Nicholson, Garth;
Shy, Mike E;
Koutmou, Kristin S;
Antonellis, Anthony

Publication type:

Article

Lung adenocarcinoma cell-derived exosomes promote M2 macrophage polarization through transmission of miR-3153 to activate the JNK signaling pathway.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2162, doi. 10.1093/hmg/ddad052

By:

Xu, L;
Wang, L;
Yang, R;
Li, T;
Zhu, X

Publication type:

Article

Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2241, doi. 10.1093/hmg/ddad051

By:

Indelicato, Elisabetta;
Kirchmair, Alexander;
Amprosi, Matthias;
Steixner, Stephan;
Nachbauer, Wolfgang;
Eigentler, Andreas;
Wahl, Nico;
Apostolova, Galina;
Krogsdam, Anne;
Schneider, Rainer;
Wanschitz, Julia;
Trajanoski, Zlatko;
Boesch, Sylvia

Publication type:

Article

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2192, doi. 10.1093/hmg/ddad048

By:

Asadollahi, R;
Delvendahl, I;
Muff, R;
Tan, G;
Rodríguez, D G;
Turan, S;
Russo, M;
Oneda, B;
Joset, P;
Boonsawat, P;
Masood, R;
Mocera, M;
Ivanovski, I;
Baumer, A;
Bachmann-Gagescu, R;
Schlapbach, R;
Rehrauer, H;
Steindl, K;
Begemann, A;
Reis, A

Publication type:

Article

Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2139, doi. 10.1093/hmg/ddad046

By:

Ripolles-Garcia, Ana;
Murgiano, Leonardo;
Ziolkowska, Natalia;
Marinho, Felipe Pompeo;
Roszak, Karolina;
Iffrig, Sommer;
Aguirre, Gustavo D;
Miyadera, Keiko

Publication type:

Article

Letter to the editor.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2121, doi. 10.1093/hmg/ddad037

By:

Soussi, Thierry

Publication type:

Article

Genetic risk of osteoarthritis operates during human skeletogenesis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2124, doi. 10.1093/hmg/ddac251

By:

Rice, Sarah J;
Brumwell, Abby;
Falk, Julia;
Kehayova, Yulia S;
Casement, John;
Parker, Eleanor;
Hofer, Ines M J;
Shepherd, Colin;
Loughlin, John

Publication type:

Article

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2152, doi. 10.1093/hmg/ddad050

By:

Hernández-García, Andrés;
Pendleton, Katherine E;
Kim, Sangbae;
Li, Yumei;
Kim, Bum J;
Zaveri, Hitisha P;
Jordan, Valerie K;
Berry, Aliska M;
Ljungberg, M Cecilia;
Chen, Rui;
Lanz, Rainer B;
Scott, Daryl A

Publication type:

Article