Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 8

Results: 13

Erratum to: The Jun-dependent axon regeneration gene program: Jun promotes regeneration over plasticity.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1356, doi. 10.1093/hmg/ddac044

By:

Mason, Matthew R J;
Erp, Susan van;
Wolzak, Kim;
Behrens, Axel;
Raivich, Gennadij;
Verhaagen, Joost

Publication type:

Article

Genome-wide association study of mitochondrial copy number.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1346, doi. 10.1093/hmg/ddab341

By:

Gentiluomo, Manuel;
Giaccherini, Matteo;
Gào, Xīn;
Guo, Feng;
Stocker, Hannah;
Schöttker, Ben;
Brenner, Hermann;
Canzian, Federico;
Campa, Daniele

Publication type:

Article

Shared genetic liability and causal effects between major depressive disorder and insomnia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1336, doi. 10.1093/hmg/ddab328

By:

Baranova, Ancha;
Cao, Hongbao;
Zhang, Fuquan

Publication type:

Article

Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers–Danlos syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1325, doi. 10.1093/hmg/ddab323

By:

Machol, Keren;
Polak, Urszula;
Weisz-Hubshman, Monika;
Song, I-Wen;
Chen, Shan;
Jiang, Ming-Ming;
Chen-Evenson, Yuqing;
Weis, Mary Ann E;
Keene, Douglas R;
Eyre, David R;
Lee, Brendan H

Publication type:

Article

Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1278, doi. 10.1093/hmg/ddab319

By:

Bertrand, Renae Elaine;
Wang, Jun;
Li, Yumei;
Cheng, Xuesen;
Wang, Keqing;
Stoilov, Peter;
Chen, Rui

Publication type:

Article

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1308, doi. 10.1093/hmg/ddab318

By:

Logli, Elena;
Marzuolo, Elisa;
D'Agostino, Marco;
Conti, Libenzio Adrian;
Lena, Anna Maria;
Diociaiuti, Andrea;
Dellambra, Elena;
Has, Cristina;
Cianfanelli, Valentina;
Zambruno, Giovanna;
Hachem, May El;
Magenta, Alessandra;
Candi, Eleonora;
Condorelli, Angelo Giuseppe

Publication type:

Article

Crk and Crkl have shared functions in neural crest cells for cardiac outflow tract septation and vascular smooth muscle differentiation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1197, doi. 10.1093/hmg/ddab313

By:

Shi, Lijie;
Racedo, Silvia E;
Diacou, Alexander;
Park, Taeju;
Zhou, Bin;
Morrow, Bernice E

Publication type:

Article

Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1293, doi. 10.1093/hmg/ddab317

By:

Smith, Caley E;
Lorson, Monique A;
Hernandez, Sara M Ricardez;
Rawi, Zayd Al;
Mao, Jiude;
Marquez, Jose;
Villalón, Eric;
Keilholz, Amy N;
Smith, Catherine L;
Garro-Kacher, Mona O;
Morcos, Toni;
Davis, Daniel J;
Bryda, Elizabeth C;
Nichols, Nicole L;
Lorson, Christian L

Publication type:

Article

Jun-dependent axon regeneration gene program: Jun promotes regeneration over plasticity.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1242, doi. 10.1093/hmg/ddab315

By:

Mason, Matthew R J;
Erp, Susan van;
Wolzak, Kim;
Behrens, Axel;
Raivich, Gennadij;
Verhaagen, Joost

Publication type:

Article

Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1230, doi. 10.1093/hmg/ddab314

By:

Ng, Kah Ying;
Richter, Uwe;
Jackson, Christopher B;
Seneca, Sara;
Battersby, Brendan J

Publication type:

Article

large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1263, doi. 10.1093/hmg/ddab316

By:

Occelli, Laurence M;
Daruwalla, Anahita;
Silva, Samantha R De;
Winkler, Paige A;
Sun, Kelian;
Pasmanter, Nathaniel;
Minella, Andrea;
Querubin, Janice;
Lyons, Leslie A;
Consortium, 99 Lives;
Robson, Anthony G;
Heon, Elise;
Michaelides, Michel;
Webster, Andrew R;
Palczewski, Krzysztof;
Vincent, Ajoy;
Mahroo, Omar A;
Kiser, Philip D;
Petersen-Jones, Simon M

Publication type:

Article

Distinct roles for the Charcot–Marie–Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1216, doi. 10.1093/hmg/ddab311

By:

Mammel, Anna E;
Delgado, Katherine C;
Chin, Andrea L;
Condon, Alec F;
Hill, Jo Q;
Aicher, Sue A;
Wang, Yingming;
Fedorov, Lev M;
Robinson, Fred L

Publication type:

Article

IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 8, p. 1183, doi. 10.1093/hmg/ddab307

By:

Oltrabella, Francesca;
Jackson-Crawford, Anthony;
Yan, Guanhua;
Rixham, Sarah;
Starborg, Tobias;
Lowe, Martin

Publication type:

Article