Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 11

Results: 16

Collagen XIII secures pre- and postsynaptic integrity of the neuromuscular synapse.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2076, doi. 10.1093/hmg/ddx101

By:

Härönen, Heli;
Zainul, Zarin;
Hongmin Tu;
Naumenko, Nikolay;
Sormunen, Raija;
Miinalainen, Ilkka;
Shakirzyanova, Anastasia;
Oikarainen, Tuomo;
Abdullin, Azat;
Martin, Paula;
Santoleri, Sabrina;
Koistinaho, Jari;
Silman, Israel;
Giniatullin, Rashid;
Fox, Michael A.;
Heikkinen, Anne;
Pihlajaniemi, Taina

Publication type:

Article

Bimodal regulation of Dishevelled function by Vangl2 during morphogenesis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2053, doi. 10.1093/hmg/ddx095

By:

Hwa-Seon Seo;
Habas, Raymond;
Chenbei Chang;
Jianbo Wang

Publication type:

Article

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2118, doi. 10.1093/hmg/ddx107

By:

Sharon Kim;
Twigg, Stephen R. F.;
Scanlon, Victoria A.;
Chandra, Aditi;
Hansen, Tyler J.;
Alsubait, Arwa;
Fenwick, Aimee L.;
McGowan, Simon J.;
Lord, Helen;
Lester, Tracy;
Sweeney, Elizabeth;
Weber, Astrid;
Cox, Helen;
Wilkie, Andrew O. M.;
Golden, Andy;
Corsi, Ann K.

Publication type:

Article

A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2146, doi. 10.1093/hmg/ddx112

By:

Chi-Hong Wu;
Giampetruzzi, Anthony;
Tran, Helene;
Fallini, Claudia;
Fen-Biao Gao;
Landers, John E.

Publication type:

Article

Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 1979, doi. 10.1093/hmg/ddx065

By:

Defour, Aurelia;
Medikayala, Sushma;
Van der Meulen, Jack H.;
Hogarth, Marshall W.;
Holdreith, Nicholas;
Malatras, Apostolos;
Duddy, William;
Boehler, Jessica;
Nagaraju, Kanneboyina;
Jaiswal, Jyoti K.

Publication type:

Article

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2133, doi. 10.1093/hmg/ddx108

By:

Castro, Hoanna;
Kul, Emre;
Buijsen, Ronald A. M.;
Severijnen, Lies-Anne W. F. M.;
Willemsen, Rob;
Hukema, Renate K.;
Stork, Oliver;
Santos, Mónica

Publication type:

Article

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2062, doi. 10.1093/hmg/ddx099

By:

Donnio, Lise-Marie;
Bidon, Baptiste;
Satoru Hashimoto;
May, Melanie;
Epanchintsev, Alexey;
Ryan, Colm;
Allen, William;
Hackett, Anna;
Gecz, Jozef;
Skinner, Cindy;
Stevenson, Roger E.;
de Brouwer, Arjan P. M.;
Coutton, Charles;
Francannet, Christine;
Jouk, Pierre-Simon;
Schwartz, Charles E.;
Egly, Jean-Marc

Publication type:

Article

Genetic modifications of Mecr reveal a role for mitochondrial 2-enoyl-CoA/ACP reductase in placental development in mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2104, doi. 10.1093/hmg/ddx105

By:

Nair, Remya R.;
Kerätär, Juha M.;
Autio, Kaija J.;
Masud, Ali J.;
Finnilä, Mikko A.J.;
Autio-Harmainen, Helena I.;
Miinalainen, Ilkka J.;
Nieminen, Pentti A.;
Hiltunen, J. Kalervo;
Kastaniotis, Alexander J.

Publication type:

Article

Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2091, doi. 10.1093/hmg/ddx104

By:

Mishra, Vikas;
Karumuri, Bharat K.;
Gautier, Nicole M.;
Rui Liu;
Hutson, Timothy N.;
Vanhoof-Villalba, Stephanie L.;
Vlachos, Ioannis;
Iasemidis, Leonidas;
Glasscock, Edward

Publication type:

Article

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2042, doi. 10.1093/hmg/ddx094

By:

Pham, Duyen H.;
Tan, Chuan C.;
Homan, Claire C.;
Kolc, Kristy L.;
Corbett, Mark A.;
McAninch, Dale;
Fox, Archa H.;
Thomas, Paul Q.;
Kumar, Raman;
Gecz, Jozef

Publication type:

Article

Detection of genetic loci associated with plasma fetuin-A: a meta-analysis of genome-wide association studies from the CHARGE Consortium.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2156, doi. 10.1093/hmg/ddx091

By:

Jensen, Majken K.;
Jensen, Richard A.;
Mukamal, Kenneth J.;
Xiuqing Guo;
Jie Yao;
Qi Sun;
Marilyn Cornelis;
Yongmei Liu;
Ming-Huei Chen;
Kizer, Jorge R.;
Luc Djoussé;
Siscovick, David S.;
Psaty, Bruce M.;
Zmuda, Joseph M.;
Rotter, Jerome I.;
Garcia, Melissa;
Harris, Tamara;
Ida Chen;
Goodarzi, Mark O.;
Nalls, Michael A.

Publication type:

Article

Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2164, doi. 10.1093/hmg/ddx092

By:

Gallone, Giuseppe;
Haerty, Wilfried;
Disanto, Giulio;
Ramagopalan, Sreeram V.;
Ponting, Chris P.;
Berlanga-Taylor, Antonio J.

Publication type:

Article

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2034, doi. 10.1093/hmg/ddx089

By:

Hakonen, Johanna E.;
Sorrentino, Vincenzo;
Trezza, Rossella Avagliano;
de Wissel, Marit B.;
van den Berg, Marlene;
Bleijlevens, Boris;
van Ruissen, Fred;
Distel, Ben;
Baas, Frank;
Zelcer, Noam;
Weterman, Marian A. J.

Publication type:

Article

Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2018, doi. 10.1093/hmg/ddx083

By:

Nunes, Andreia M.;
Wuebbles, Ryan D.;
Sarathy, Apurva;
Fontelonga, Tatiana M.;
Deries, Marianne;
Burkin, Dean J.;
Thorsteinsdóttir, Sólveig

Publication type:

Article

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 2006, doi. 10.1093/hmg/ddx080

By:

Marcos, Séverine;
Monnier, Carine;
Rovira, Xavier;
Fouveaut, Corinne;
Pitteloud, Nelly;
Ango, Fabrice;
Dodé, Catherine;
Hardelin, Jean-Pierre

Publication type:

Article

Disrupted-in-Schizophrenia-1 is essential for normal hypothalamic-pituitary-interrenal (HPI) axis function.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 11, p. 1992, doi. 10.1093/hmg/ddx076

By:

Eachus, Helen;
Bright, Charlotte;
Cunliffe, Vincent T.;
Placzek, Marysia;
Wood, Jonathan D.;
Watt, Penelope J.

Publication type:

Article