Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 6

Results: 15

Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 912, doi. 10.1093/hmg/ddy401

By:

Carrillo-Rosas, Samantha;
Weber, Chantal;
Fievet, Lorraine;
Messaddeq, Nadia;
Karam, Alice;
Trottier, Yvon

Publication type:

Article

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 972, doi. 10.1093/hmg/ddy406

By:

Ansar, Muhammad;
Paracha, Sohail Aziz;
Serretti, Alessandro;
Sarwar, Muhammad T;
Khan, Jamshed;
Ranza, Emmanuelle;
Falconnet, Emilie;
Iwaszkiewicz, Justyna;
Shah, Sayyed Fahim;
Qaisar, Azhar Ali;
Santoni, Federico A;
Zoete, Vincent;
Megarbane, Andre;
Ahmed, Jawad;
Colombo, Roberto;
Makrythanasis, Periklis;
Antonarakis, Stylianos E

Publication type:

Article

Dystrophinopathy-associated dysfunction of Krebs cycle metabolism.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 942, doi. 10.1093/hmg/ddy404

By:

Lindsay, Angus;
Chamberlain, Christopher M;
Witthuhn, Bruce A;
Lowe, Dawn A;
Ervasti, James M

Publication type:

Article

Runx2 regulates cranial suture closure by inducing hedgehog, Fgf, Wnt and Pthlh signaling pathway gene expressions in suture mesenchymal cells.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 896, doi. 10.1093/hmg/ddy386

By:

Qin, Xin;
Jiang, Qing;
Miyazaki, Toshihiro;
Komori, Toshihisa

Publication type:

Article

Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 928, doi. 10.1093/hmg/ddy403

By:

Seminotti, Bianca;
Leipnitz, Guilhian;
Karunanidhi, Anuradha;
Kochersperger, Catherine;
Roginskaya, Vera Y;
Basu, Shrabani;
Wang, Yudong;
Wipf, Peter;
Houten, Bennett Van;
Mohsen, Al-Walid;
Vockley, Jerry

Publication type:

Article

Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 980, doi. 10.1093/hmg/ddy410

By:

Kong, Ha Eun;
Lim, Junghwa;
Zhang, Feiran;
Huang, Luoxiu;
Gu, Yanghong;
Nelson, David L;
Allen, Emily G;
Jin, Peng

Publication type:

Article

Human SPG11 cerebral organoids reveal cortical neurogenesis impairment.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 961, doi. 10.1093/hmg/ddy397

By:

Pérez-Brangulí, Francesc;
Buchsbaum, Isabel Y;
Pozner, Tatyana;
Regensburger, Martin;
Fan, Wenqiang;
Schray, Annika;
Börstler, Tom;
Mishra, Himanshu;
Gräf, Daniela;
Kohl, Zacharias;
Winkler, Jürgen;
Berninger, Benedikt;
Cappello, Silvia;
Winner, Beate

Publication type:

Article

Genomic analyses in African populations identify novel risk loci for cleft palate.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 1038, doi. 10.1093/hmg/ddy402

By:

Butali, Azeez;
Mossey, Peter A;
Adeyemo, Wasiu L;
Eshete, Mekonen A;
Gowans, Lord J J;
Busch, Tamara D;
Jain, Deepti;
Yu, Wenjie;
Huan, Liu;
Laurie, Cecelia A;
Laurie, Cathy C;
Nelson, Sarah;
Li, Mary;
Sanchez-Lara, Pedro A;
Magee, William P;
Magee, Kathleen S;
Auslander, Allyn;
Brindopke, Frederick;
Kay, Denise M;
Caggana, Michele

Publication type:

Article

Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locus.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 888, doi. 10.1093/hmg/ddy385

By:

Davis, James P;
Vadlamudi, Swarooparani;
Roman, Tamara S;
Zeynalzadeh, Monica;
Iyengar, Apoorva K;
Mohlke, Karen L

Publication type:

Article

Enhanced axonal neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot–Marie–Tooth type 1B mouse model.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 992, doi. 10.1093/hmg/ddy411

By:

Scapin, Cristina;
Ferri, Cinzia;
Pettinato, Emanuela;
Zambroni, Desiree;
Bianchi, Francesca;
Carro, Ubaldo Del;
Belin, Sophie;
Caruso, Donatella;
Mitro, Nico;
Pellegatta, Marta;
Taveggia, Carla;
Schwab, Markus H;
Nave, Klaus-Armin;
Feltri, M Laura;
Wrabetz, Lawrence;
D'Antonio, Maurizio

Publication type:

Article

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 1007, doi. 10.1093/hmg/ddy412

By:

Motta, Marialetizia;
Fidan, Miray;
Bellacchio, Emanuele;
Pantaleoni, Francesca;
Schneider-Heieck, Konstantin;
Coppola, Simona;
Borck, Guntram;
Salviati, Leonardo;
Zenker, Martin;
Cirstea, Ion C;
Tartaglia, Marco

Publication type:

Article

Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 1052, doi. 10.1093/hmg/ddy368

By:

Lorès, Patrick;
Coutton, Charles;
Khouri, Elma El;
Stouvenel, Laurence;
Givelet, Maëlle;
Thomas, Lucie;
Rode, Baptiste;
Schmitt, Alain;
Louis, Bruno;
Sakheli, Zeinab;
Chaudhry, Marhaba;
Fernandez-Gonzales, Angeles;
Mitsialis, Alex;
Dacheux, Denis;
Wolf, Jean-Philippe;
Papon, Jean-François;
Gacon, Gérard;
Escudier, Estelle;
Arnoult, Christophe;
Bonhivers, Mélanie

Publication type:

Article

Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 952, doi. 10.1093/hmg/ddy391

By:

Mattioli, Francesca;
Isidor, Bertrand;
Abdul-Rahman, Omar;
Gunter, Andrew;
Huang, Lijia;
Kumar, Raman;
Beaulieu, Chandree;
Gecz, Jozef;
Innes, Micheil;
Mandel, Jean-Louis;
Piton, Amélie

Publication type:

Article

Association of prolactin receptor (PRLR) variants with prolactinomas.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 1023, doi. 10.1093/hmg/ddy396

By:

Gorvin, Caroline M;
Newey, Paul J;
Rogers, Angela;
Stokes, Victoria;
Neville, Matt J;
Lines, Kate E;
Ntali, Georgia;
Lees, Peter;
Morrison, Patrick J;
Singhellakis, Panagiotis N;
Malandrinou, Fotini Ch;
Karavitaki, Niki;
Grossman, Ashley B;
Karpe, Fredrik;
Thakker, Rajesh V

Publication type:

Article

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 877, doi. 10.1093/hmg/ddy392

By:

Putoux, Audrey;
Baas, Dominique;
Paschaki, Marie;
Morlé, Laurette;
Maire, Charline;
Attié-Bitach, Tania;
Thomas, Sophie;
Durand, Bénédicte

Publication type:

Article