Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 10

Results: 15

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1620, doi. 10.1093/hmg/ddz002

By:

Chamberlin, Adam;
Huether, Robert;
Machado, Aline Z;
Groden, Michael;
Liu, Hsiao-Mei;
Upadhyay, Kinnari;
O, Vivian;
Gomes, Nathalia L;
Lerario, Antonio M;
Nishi, Mirian Y;
Costa, Elaine M F;
Mendonca, Berenice;
Domenice, Sorahia;
Velasco, Jacqueline;
Loke, Johnny;
Ostrer, Harry

Publication type:

Article

Systemic investigation of bone and muscle abnormalities in dystrophin/utrophin double knockout mice during postnatal development and the mechanisms.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1738, doi. 10.1093/hmg/ddz012

By:

Gao, Xueqin;
Tang, Ying;
Amra, Sarah;
Sun, Xuying;
Cui, Yan;
Cheng, Haizi;
Wang, Bing;
Huard, Johnny

Publication type:

Article

Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1629, doi. 10.1093/hmg/ddz006

By:

Sancho, Paula;
Bartesaghi, Luca;
Miossec, Olivia;
García-García, Francisco;
Ramírez-Jiménez, Laura;
Siddell, Anna;
Åkesson, Elisabet;
Hedlund, Eva;
Laššuthová, Petra;
Pascual-Pascual, Samuel I;
Sevilla, Teresa;
Kennerson, Marina;
Lupo, Vincenzo;
Chrast, Roman;
Espinós, Carmen

Publication type:

Article

TIPE2 gene transfer with adeno-associated virus 9 ameliorates dystrophic pathology in mdx mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1608, doi. 10.1093/hmg/ddz001

By:

Gao, Shanshan;
Lu, Aiping;
Amra, Sarah;
Guo, Ping;
Huard, Johnny

Publication type:

Article

Multifaceted Hoxa13 function in urogenital development underlies the Hand–Foot–Genital Syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1671, doi. 10.1093/hmg/ddz013

By:

Roux, Marine;
Bouchard, Maxime;
Kmita, Marie

Publication type:

Article

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1594, doi. 10.1093/hmg/ddy448

By:

Dong, Yi Na;
McMillan, Emily;
Clark, Elisia M;
Lin, Hong;
Lynch, David R

Publication type:

Article

The TFAP2A–IRF6–GRHL3 genetic pathway is conserved in neurulation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1726, doi. 10.1093/hmg/ddz010

By:

Kousa, Youssef A;
Zhu, Huiping;
Fakhouri, Walid D;
Lei, Yunping;
Kinoshita, Akira;
Roushangar, Raeuf R;
Patel, Nicole K;
Agopian, A J;
Yang, Wei;
Leslie, Elizabeth J;
Busch, Tamara D;
Mansour, Tamer A;
Li, Xiao;
Smith, Arianna L;
Li, Edward B;
Sharma, Dhruv B;
Williams, Trevor J;
Chai, Yang;
Amendt, Brad A;
Liao, Eric C

Publication type:

Article

Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1709, doi. 10.1093/hmg/ddz016

By:

Li, Frank;
Barton, Elisabeth R;
Granzier, Henk

Publication type:

Article

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1579, doi. 10.1093/hmg/ddy446

By:

Silva-Rojas, Roberto;
Treves, Susan;
Jacobs, Hugues;
Kessler, Pascal;
Messaddeq, Nadia;
Laporte, Jocelyn;
Böhm, Johann

Publication type:

Article

Sex differences in gene expression in response to ischemia in the human left ventricular myocardium.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1682, doi. 10.1093/hmg/ddz014

By:

Stone, Gregory;
Choi, Ashley;
Meritxell, Oliva;
Gorham, Joshua;
Heydarpour, Mahyar;
Seidman, Christine E;
Seidman, Jon G;
Aranki, Sary F;
Body, Simon C;
Carey, Vincent J;
Raby, Benjamin A;
Stranger, Barbara E;
Muehlschlegel, Jochen D

Publication type:

Article

Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1694, doi. 10.1093/hmg/ddz007

By:

Malerba, Alberto;
Roth, Fanny;
Harish, Pradeep;
Dhiab, Jamila;
Lu-Nguyen, Ngoc;
Cappellari, Ornella;
Jarmin, Susan;
Mahoudeau, Alexandrine;
Ythier, Victor;
Lainé, Jeanne;
Negroni, Elisa;
Abgueguen, Emmanuelle;
Simonelig, Martine;
Guedat, Philippe;
Mouly, Vincent;
Butler-Browne, Gillian;
Voisset, Cécile;
Dickson, George;
Trollet, Capucine

Publication type:

Article

Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1752, doi. 10.1093/hmg/ddz021

By:

Belin, Sophie;
Ornaghi, Francesca;
Shackleford, Ghjuvan'Ghjacumu;
Wang, Jie;
Scapin, Cristina;
Lopez-Anido, Camila;
Silvestri, Nicholas;
Robertson, Neil;
Williamson, Courtney;
Ishii, Akihiro;
Taveggia, Carla;
Svaren, John;
Bansal, Rashmi;
Schwab, Markus H;
Nave, Klaus;
Fratta, Pietro;
D'Antonio, Maurizio;
Poitelon, Yannick;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

Mutant huntingtin expression in microglia is neither required nor sufficient to cause the Huntington's disease-like phenotype in BACHD mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1661, doi. 10.1093/hmg/ddz009

By:

Petkau, Terri L;
Hill, Austin;
Connolly, Colúm;
Lu, Ge;
Wagner, Pam;
Kosior, Natalia;
Blanco, Jake;
Leavitt, Blair R

Publication type:

Article

LRRK2 impairs PINK1/Parkin-dependent mitophagy via its kinase activity: pathologic insights into Parkinson's disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1645, doi. 10.1093/hmg/ddz004

By:

Bonello, Fiona;
Hassoun, Sidi-Mohamed;
Mouton-Liger, François;
Shin, Yea Seul;
Muscat, Adeline;
Tesson, Christelle;
Lesage, Suzanne;
Beart, Philip M;
Brice, Alexis;
Krupp, Johannes;
Corvol, Jean-Christophe;
Corti, Olga

Publication type:

Article

Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 10, p. 1753, doi. 10.1093/hmg/ddz036

By:

Currall, Benjamin B;
Chen, Ming;
Sallari, Richard C;
Cotter, Maura;
Wong, Kristen E;
Robertson, Nahid G;
Penney, Kathryn L;
Lunardi, Andrea;
Reschke, Markus;
Hickox, Ann E;
Yin, Yanbo;
Wong, Garrett T;
Fung, Jacqueline;
Brown, Kerry K;
Williamson, Robin E;
Sinnott-Armstrong, Nicholas A;
Kammin, Tammy;
Ivanov, Andrew;
Zepeda-Mendoza, Cinthya J;
Shen, Jun

Publication type:

Article