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

Results: 16

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
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
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
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
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
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
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
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
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
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
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
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