Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 23

Results: 23

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6603, doi. 10.1093/hmg/ddv366

By:

Limoge, Floriane;
Faivre, Laurence;
Gautier, Thomas;
Petit, Jean-Michel;
Gautier, Elodie;
Masson, David;
Jego, Gaëtan;
El Chehadeh-Djebbar, Salima;
Marle, Nathalie;
Carmignac, Virginie;
Deckert, Valérie;
Brindisi, Marie-Claude;
Edery, Patrick;
Ghoumid, Jamal;
Blair, Edward;
Lagrost, Laurent;
Thauvin-Robinet, Christel;
Duplomb, Laurence

Publication type:

Article

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6711, doi. 10.1093/hmg/ddv376

By:

Celia Kun-Rodrigues;
Ganos, Christos;
Guerreiro, Rita;
Schneider, Susanne A.;
Schulte, Claudia;
Lesage, Suzanne;
Darwent, Lee;
Holmans, Peter;
Singleton, Andrew

Publication type:

Article

miR-132/212 deficiency impairs tau metabolism and promotes pathological aggregation in vivo.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6721, doi. 10.1093/hmg/ddv377

By:

Smith, Pascal Y.;
Hernandez-Rapp, Julia;
Jolivette, Francis;
Lecours, Cynthia;
Bisht, Kanchan;
Goupil, Claudia;
Dorval, Veronique;
Parsi, Sepideh;
Morin, Françoise;
Planel, Emmanuel;
Bennett, David A.;
Fernandez-Gomez, Francisco-Jose;
Sergeant, Nicolas;
Buée, Luc;
Tremblay, Marie-Ève;
Calon, Frédéric;
Hébert, Sébastien S.

Publication type:

Article

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6840, doi. 10.1093/hmg/ddv369

By:

Keatinge, Marcus;
Hai Bui;
Menke, Aswin;
Yu-Chia Chen;
Sokol, Anna M.;
Qing Bai;
Ellett, Felix;
Da Costa, Marc;
Burke, Derek;
Gegg, Matthew;
Trollope, Lisa;
Payne, Thomas;
McTighe, Aimee;
Mortiboys, Heather;
de Jager, Sarah;
Nuthall, Hugh;
Ming-Shang Kuo;
Fleming, Angeleen;
Schapira, Anthony H. V.;
Renshaw, Stephen A.

Publication type:

Article

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6769, doi. 10.1093/hmg/ddv382

By:

Zoppi, Nicoletta;
Chiarelli, Nicola;
Cinquina, Valeria;
Ritelli, Marco;
Colombi, Marina

Publication type:

Article

Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6811, doi. 10.1093/hmg/ddv386

By:

Trapani, Ivana;
Toriello, Elisabetta;
de Simone, Sonia;
Colella, Pasqualina;
Iodice, Carolina;
Polishchuk, Elena V.;
Sommella, Andrea;
Colecchi, Linda;
Rossi, Settimio;
Simonelli, Francesca;
Giunti, Massimo;
Bacci, Maria L.;
Polishchuk, Roman S.;
Auricchio, Alberto

Publication type:

Article

Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant α-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6675, doi. 10.1093/hmg/ddv372

By:

Mari Suzuki;
Nobuhiro Fujikake;
Toshihide Takeuchi;
Ayako Kohyama-Koganeya;
Kazuki Nakajima;
Yoshio Hirabayashi;
Keiji Wada;
Yoshitaka Nagai

Publication type:

Article

Multi-level omics analysis in a murine model of dystrophin loss and therapeutic restoration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6756, doi. 10.1093/hmg/ddv381

By:

Roberts, Thomas C.;
Johansson, Henrik J.;
McClorey, Graham;
Godfrey, Caroline;
Blomberg, K. Emelie M.;
Coursindel, Thibault;
Gait, Michael J.;
Smith, C. I. Edvard;
Lehtiö, Janne;
Andaloussi, Samir E. L.;
Wood, Matthew J. A.

Publication type:

Article

Two novel COLVI long chains in zebrafish that are essential for muscle development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6624, doi. 10.1093/hmg/ddv368

By:

Ramanoudjame, Laetitia;
Rocancourt, Claire;
Lainé, Jeanne;
Klein, Arnaud;
Joassard, Lucette;
Gartioux, Corine;
Fleury, Marjory;
Lyphout, Laura;
Kabashi, Edor;
Ciura, Sorana;
Cousin, Xavier;
Allamand, Valérie

Publication type:

Article

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6565, doi. 10.1093/hmg/ddv345

By:

Porter, Louise F.;
Galli, Giorgio G.;
Williamson, Sally;
Selley, Julian;
Knight, David;
Elcioglu, Nursel;
Aydin, Ali;
Elcioglu, Mustafa;
Venselaar, Hanka;
Lund, Anders H.;
Bonshek, Richard;
Black, Graeme C.;
Manson, Forbes D.

Publication type:

Article

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6801, doi. 10.1093/hmg/ddv385

By:

Akman, H. Orhan;
Emmanuele, Valentina;
Kurt, Yasemin Gülcan;
Kurt, Bülent;
Sheiko, Tatiana;
DiMauro, Salvatore;
Craigen, William J.

Publication type:

Article

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6614, doi. 10.1093/hmg/ddv367

By:

Janecke, Andreas R.;
Heinz-Erian, Peter;
Jianyi Yin;
Petersen, Britt-Sabina;
Franke, Andre;
Lechner, Silvia;
Fuchs, Irene;
Melancon, Serge;
Uhlig, Holm H.;
Travis, Simon;
Marinier, Evelyne;
Perisic, Vojislav;
Ristic, Nina;
Gerner, Patrick;
Booth, Ian W.;
Wedenoja, Satu;
Baumgartner, Nadja;
Vodopiutz, Julia;
Frechette-Duval, Marie-Christine;
De Lafollie, Jan

Publication type:

Article

The Alzheimer's disease risk factor CD2AP maintains blood-brain barrier integrity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6667, doi. 10.1093/hmg/ddv371

By:

Cochran, J. Nicholas;
Rush, Travis;
Buckingham, Susan C.;
Roberson, Erik D.

Publication type:

Article

Overexpression of ATF3 or the combination of ATF3, c-Jun, STAT3 and Smad1 promotes regeneration of the central axon branch of sensory neurons but without synergistic effects.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6788, doi. 10.1093/hmg/ddv383

By:

Fagoe, Nitish D.;
Attwell, Callan L.;
Kouwenhoven, Dorette;
Verhaagen, Joost;
Mason, Matthew R. J.

Publication type:

Article

Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6736, doi. 10.1093/hmg/ddv380

By:

Dubos, Aline;
Castells-Nobau, Anna;
Meziane, Hamid;
Oortveld, Merel A. W.;
Houbaert, Xander;
Iacono, Giovanni;
Martin, Christelle;
Mittelhaeuser, Christophe;
Lalanne, Valérie;
Kramer, Jamie M.;
Bhukel, Anuradha;
Quentin, Christine;
Slabbert, Jan;
Verstreken, Patrik;
Sigrist, Stefan J.;
Messaddeq, Nadia;
Birling, Marie-Christine;
Selloum, Mohammed;
Stunnenberg, Henk G.;
Humeau, Yann

Publication type:

Article

Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6849, doi. 10.1093/hmg/ddv379

By:

Hägg, Sara;
Ganna, Andrea;
Van Der Laan, Sander W.;
Esko, Tonu;
Pers, Tune H.;
Locke, Adam E.;
Berndt, Sonja I.;
Justice, Anne E.;
Kahali, Bratati;
Siemelink, Marten A.;
Pasterkamp, Gerard;
Strachan, David P.;
Speliotes, Elizabeth K.;
North, Kari E.;
Loos, Ruth J. F.;
Hirschhorn, Joel N.;
Pawitan, Yudi;
Ingelsson, Erik

Publication type:

Article

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6580, doi. 10.1093/hmg/ddv361

By:

Gineste, Charlotte;
Hernandez, Andres;
Ivarsson, Niklas;
Cheng, Arthur J.;
Naess, Karin;
Wibom, Rolf;
Lesko, Nicole;
Bruhn, Helene;
Wedell, Anna;
Freyer, Christoph;
Shi-Jin Zhang;
Carlström, Mattias;
Lanner, Johanna T.;
Andersson, Daniel C.;
Bruton, Joseph D.;
Wredenberg, Anna;
Westerblad, Håkan

Publication type:

Article

Integrative pathway genomics of lung function and airflow obstruction.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6836, doi. 10.1093/hmg/ddv378

By:

Gharib, Sina A.;
Loth, Daan W.;
Artigas, María Soler;
Birkland, Timothy P.;
Wilk, Jemma B.;
Wain, Louise V.;
Brody, Jennifer A.;
Obeidat, Ma'en;
Hancock, Dana B.;
Tang, Wenbo;
Rawal, Rajesh;
Boezen, H. Marike;
Imboden, Medea;
Huffman, Jennifer E.;
Lahousse, Lies;
Alves, Alexessander C.;
Manichaikul, Ani;
Hui, Jennie;
Morrison, Alanna C.;
Ramasamy, Adaikalavan

Publication type:

Article

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6588, doi. 10.1093/hmg/ddv363

By:

Bengoechea, Rocio;
Pittman, Sara K.;
Tuck, Elizabeth P.;
True, Heather L.;
Weihl, Conrad C.

Publication type:

Article

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6826, doi. 10.1093/hmg/ddv387

By:

De Pace, Raffaella;
Velho, Renata Voltolini;
Encarnação, Marisa;
Marschner, Katrin;
Braulke, Thomas;
Pohl, Sandra

Publication type:

Article

FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6699, doi. 10.1093/hmg/ddv374

By:

Bagheri-Fam, Stefan;
Ono, Makoto;
Li Li;
Liang Zhao;
Ryan, Janelle;
Lai, Raymond;
Yukako Katsura;
Rossello, Fernando J.;
Koopman, Peter;
Scherer, Gerd;
Bartsch, Oliver;
Eswarakumar, Jacob V. P.;
Harley, Vincent R.

Publication type:

Article

Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6687, doi. 10.1093/hmg/ddv373

By:

Auguste, Aurélie;
Bessière, Laurianne;
Todeschini, Anne-Laure;
Caburet, Sandrine;
Sarnacki, Sabine;
Prat, Jaime;
D'angelo, Emanuela;
De La Grange, Pierre;
Ariste, Olivier;
Lemoine, Fréderic;
Legois, Bérangère;
Sultan, Charles;
Zider, Alain;
Galmiche, Louise;
Kalfa, Nicolas;
Veitia, Reiner A.

Publication type:

Article

Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6653, doi. 10.1093/hmg/ddv370

By:

Marino, Valerio;
Scholten, Alexander;
Koch, Karl-Wilhelm;
Dell'Orco, Daniele

Publication type:

Article