Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 9

Results: 13

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1511, doi. 10.1093/hmg/ddac306

By:

Zhang, Shaochuan;
Ohkawara, Bisei;
Ito, Mikako;
Huang, Zhizhou;
Zhao, Fei;
Nakata, Tomohiko;
Takeuchi, Tomoya;
Sakurai, Hidetoshi;
Komaki, Hirofumi;
Kamon, Masayoshi;
Araki, Toshiyuki;
Ohno, Kinji

Publication type:

Article

Epigenetic gestational age and the relationship with developmental milestones in early childhood.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1565, doi. 10.1093/hmg/ddac302

By:

Polinski, Kristen J;
Robinson, Sonia L;
Putnick, Diane L;
Guan, Weihua;
Gleason, Jessica L;
Mumford, Sunni L;
Sundaram, Rajeshwari;
Mendola, Pauline;
London, Stephanie;
Yeung, Edwina H

Publication type:

Article

Parkin regulates neuronal lipid homeostasis through SREBP2-lipoprotein lipase pathway—implications for Parkinson's disease.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1466, doi. 10.1093/hmg/ddac297

By:

Tang, Willcyn;
Thundyil, John;
Lim, Grace Gui Yin;
Tng, Teddy J W;
Yeow, Sean Qing Zhang;
Nair, Aditya;
Chai, Chou;
Yao, Tso-Pang;
Lim, Kah-Leong

Publication type:

Article

Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1539, doi. 10.1093/hmg/ddad001

By:

Chen, Jia-Rong;
Chen, Chao;
Chen, Jie;
Ji, Yanchun;
Lian, Yanna;
Zhang, Juanjuan;
Yu, Jialing;
Li, Xiang-Yao;
Qu, Jia;
Guan, Min-Xin

Publication type:

Article

Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1524, doi. 10.1093/hmg/ddac307

By:

Nitta, Yohei;
Kawai, Hiroki;
Maki, Ryuto;
Osaka, Jiro;
Hakeda-Suzuki, Satoko;
Nagai, Yoshitaka;
Doubková, Karolína;
Uehara, Tomoko;
Watanabe, Kenji;
Kosaki, Kenjiro;
Suzuki, Takashi;
Tavosanis, Gaia;
Sugie, Atsushi

Publication type:

Article

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1429, doi. 10.1093/hmg/ddac289

By:

Awamleh, Zain;
Choufani, Sanaa;
Cytrynbaum, Cheryl;
Alkuraya, Fowzan S;
Scherer, Stephen;
Fernandes, Sofia;
Rosas, Catarina;
Louro, Pedro;
Dias, Patricia;
Neves, Mariana Tomásio;
Sousa, Sérgio B;
Weksberg, Rosanna

Publication type:

Article

Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1497, doi. 10.1093/hmg/ddac311

By:

Sollis, Elliot;
Hoed, Joery den;
Quevedo, Marti;
Estruch, Sara B;
Vino, Arianna;
Dekkers, Dick H W;
Demmers, Jeroen A A;
Poot, Raymond;
Deriziotis, Pelagia;
Fisher, Simon E

Publication type:

Article

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1552, doi. 10.1093/hmg/ddac309

By:

Rizvi, Midhat;
Truong, Tina K;
Zhou, Janet;
Batta, Manav;
Moran, Ellen S;
Pappas, John;
Chu, Mary Lynn;
Caluseriu, Oana;
Evrony, Gilad D;
Leslie, Elaine M;
Cordat, Emmanuelle

Publication type:

Article

Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1575, doi. 10.1093/hmg/ddac308

By:

Simonian, Rebecca;
Pannia, Emanuela;
Hammoud, Rola;
Noche, Ramil R;
Cui, Xiucheng;
Kranenburg, Eva;
Kubant, Ruslan;
Ashcraft, Paula;
Wasek, Brandi;
Bottiglieri, Teodoro;
Dowling, James J;
Anderson, G Harvey

Publication type:

Article

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296

By:

Coleman, Jessica A Cooley;
Gass, Jennifer M;
Srikanth, Sujata;
Pauly, Rini;
Ziats, Catherine A;
Everman, David B;
Skinner, Steven A;
Bell, Shannon;
Louie, Raymond J;
Cascio, Lauren;
Patterson, Wesley G;
Jones, Julie R;
Donato, Nataliya Di;
Stevenson, Roger E;
Boccuto, Luigi

Publication type:

Article

Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1439, doi. 10.1093/hmg/ddac291

By:

Unoki, Motoko;
Velasco, Guillaume;
Kori, Satomi;
Arita, Kyohei;
Daigaku, Yasukazu;
Yeung, Wan Kin Au;
Fujimoto, Akihiro;
Ohashi, Hirofumi;
Kubota, Takeo;
Miyake, Kunio;
Sasaki, Hiroyuki

Publication type:

Article

An altered extracellular matrix–integrin interface contributes to Huntington's disease-associated CNS dysfunction in glial and vascular cells.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1483, doi. 10.1093/hmg/ddac303

By:

Hernandez, Sarah J;
Lim, Ryan G;
Onur, Tarik;
Dane, Mark A;
Smith, Rebecca;
Wang, Keona;
Jean, Grace En-Hway;
Reyes-Ortiz, Andrea;
Devlin, Kaylyn;
Miramontes, Ricardo;
Wu, Jie;
Casale, Malcolm;
Kilburn, David;
Heiser, Laura M;
Korkola, James E;
Vactor, David Van;
Botas, Juan;
Thompson-Peer, Katherine L;
Thompson, Leslie M

Publication type:

Article

Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1413, doi. 10.1093/hmg/ddac254

By:

Hale, Melissa A;
Bates, Kameron;
Provenzano, Marina;
Johnson, Nicholas E

Publication type:

Article