Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 9

Results: 13

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1548, doi. 10.1093/hmg/ddy423

By:

Gershlick, David C;
Ishida, Morié;
Jones, Julie R;
Bellomo, Allison;
Bonifacino, Juan S;
Everman, David B

Publication type:

Article

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1445, doi. 10.1093/hmg/ddy441

By:

Pulman, Juliette;
Ruzzenente, Benedetta;
Bianchi, Lucas;
Rio, Marlène;
Boddaert, Nathalie;
Munnich, Arnold;
Rötig, Agnès;
Metodiev, Metodi D

Publication type:

Article

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1474, doi. 10.1093/hmg/ddy436

By:

Arbogast, Thomas;
Razaz, Parisa;
Ellegood, Jacob;
McKinstry, Spencer U;
Erdin, Serkan;
Currall, Benjamin;
Aneichyk, Tanya;
Lerch, Jason P;
Qiu, Lily R;
Rodriguiz, Ramona M;
Henkelman, R M;
Talkowski, Michael E;
Wetsel, William C;
Golzio, Christelle;
Katsanis, Nicholas

Publication type:

Article

Functional characterization of the ZEB2 regulatory landscape.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1487, doi. 10.1093/hmg/ddy440

By:

Yaacov, Reut Bar;
Eshel, Reut;
Farhi, Einan;
Shemuluvich, Fania;
Kaplan, Tommy;
Birnbaum, Ramon Y

Publication type:

Article

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1578, doi. 10.1093/hmg/ddy424

By:

Loveday, Chey;
Tatton-Brown, Katrina;
Clarke, Matthew;
Westwood, Isaac;
Renwick, Anthony;
Ramsay, Emma;
Nemeth, Andrea;
Campbell, Jennifer;
Joss, Shelagh;
Gardner, McKinlay;
Zachariou, Anna;
Elliott, Anna;
Ruark, Elise;
Montfort, Rob van;
Rahman, Nazneen

Publication type:

Article

Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1515, doi. 10.1093/hmg/ddy450

By:

Ji, Yanchun;
Zhang, Juanjuan;
Yu, Jialing;
Wang, Ying;
Lu, Yuanyuan;
Liang, Min;
Li, Qiang;
Jin, Xiaofen;
Wei, Yinsheng;
Meng, Feilong;
Gao, Yinglong;
Cang, Xiaohui;
Tong, Yi;
Liu, Xiaoling;
Zhang, Minglian;
Jiang, Peifang;
Zhu, Tao;
Mo, Jun Qin;
Huang, Taosheng;
Jiang, Pingping

Publication type:

Article

Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1561, doi. 10.1093/hmg/ddy447

By:

Marechal, Damien;
Brault, Véronique;
Leon, Alice;
Martin, Dehren;
Pereira, Patricia Lopes;
Loaëc, Nadege;
Birling, Marie-Christine;
Friocourt, Gaelle;
Blondel, Marc;
Herault, Yann

Publication type:

Article

Impact of Fgf10 deficiency on pulmonary vasculature formation in a mouse model of bronchopulmonary dysplasia.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1429, doi. 10.1093/hmg/ddy439

By:

Chao, Cho-Ming;
Moiseenko, Alena;
Kosanovic, Djuro;
Rivetti, Stefano;
Agha, Elie El;
Wilhelm, Jochen;
Kampschulte, Marian;
Yahya, Faady;
Ehrhardt, Harald;
Zimmer, Klaus-Peter;
Barreto, Guillermo;
Rizvanov, Albert A;
Schermuly, Ralph T;
Reiss, Irwin;
Morty, Rory E;
Rottier, Robbert J;
Bellusci, Saverio;
Zhang, Jin-San

Publication type:

Article

RGD inhibition of itgb1 ameliorates laminin-α2-deficient zebrafish fibre pathology.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1403, doi. 10.1093/hmg/ddy426

By:

Wood, Alasdair J;
Cohen, Naomi;
Joshi, Veronica;
Li, Mei;
Costin, Adam;
Hersey, Lucy;
McKaige, Emily A;
Manneken, Jessica D;
Sonntag, Carmen;
Miles, Lee B;
Siegel, Ashley;
Currie, Peter D

Publication type:

Article

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1530, doi. 10.1093/hmg/ddy445

By:

Tona, Risa;
Chen, Wenqian;
Nakano, Yoko;
Reyes, Laura D;
Petralia, Ronald S;
Wang, Ya-Xian;
Starost, Matthew F;
Wafa, Talah T;
Morell, Robert J;
Cravedi, Kevin D;
Hoffmann, Johann du;
Miyoshi, Takushi;
Munasinghe, Jeeva P;
Fitzgerald, Tracy S;
Chudasama, Yogita;
Omori, Koichi;
Pierpaoli, Carlo;
Banfi, Botond;
Dong, Lijin;
Belyantseva, Inna A

Publication type:

Article

Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1414, doi. 10.1093/hmg/ddy438

By:

Cardamone, Giulia;
Paraboschi, Elvezia M;
Soldà, Giulia;
Cantoni, Claudia;
Supino, Domenico;
Piccio, Laura;
Duga, Stefano;
Asselta, Rosanna

Publication type:

Article

Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1463, doi. 10.1093/hmg/ddy437

By:

Schmidt, Jana;
Mayer, Anja K;
Bakula, Daniela;
Freude, Jasmin;
Weber, Jonasz J;
Weiss, Andreas;
Riess, Olaf;
Schmidt, Thorsten

Publication type:

Article

Tau/MAPT disease-associated variant A152T alters tau function and toxicity via impaired retrograde axonal transport.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 9, p. 1498, doi. 10.1093/hmg/ddy442

By:

Butler, Victoria J;
Salazar, Dominique A;
Soriano-Castell, David;
Alves-Ferreira, Miguel;
Dennissen, Frank J A;
Vohra, Mihir;
Oses-Prieto, Juan A;
Li, Kathy H;
Wang, Austin L;
Jing, Beibei;
Li, Biao;
Groisman, Alex;
Gutierrez, Edgar;
Mooney, Sean;
Burlingame, Alma L;
Ashrafi, Kaveh;
Mandelkow, Eva-Maria;
Encalada, Sandra E;
Kao, Aimee W

Publication type:

Article