Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 6

Results: 17

Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1247, doi. 10.1093/hmg/ddw007

By:

Pers, Tune H.;
Timshel, Pascal;
Ripke, Stephan;
Lent, Samantha;
Sullivan, Patrick F.;
O'Donovan, Michael C.;
Franke, Lude;
Hirschhorn, Joel N.

Publication type:

Article

AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1043, doi. 10.1093/hmg/ddv513

By:

Vázquez-Manrique, Rafael P.;
Farina, Francesca;
Cambon, Karine;
Sequedo, María Dolores;
Parker, Alex J.;
Millán, José María;
Weiss, Andreas;
Déglon, Nicole;
Neri, Christian

Publication type:

Article

Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1233, doi. 10.1093/hmg/ddw004

By:

Angarica, Vladimir Espinosa;
Orozco, Modesto;
Sancho, Javier

Publication type:

Article

Genome-wide meta-analyses identify novel loci associated with n-3 and n-6 polyunsaturated fatty acid levels in Chinese and European-ancestry populations.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1215, doi. 10.1093/hmg/ddw002

By:

Yao Hu;
Huaixing Li;
Ling Lu;
Manichaikul, Ani;
Jingwen Zhu;
Chen, Yii-Der I.;
LiangSun;
Shuang Liang;
Siscovick, David S.;
Steffen, Lyn M.;
Tsai, Michael Y.;
Rich, Stephen S.;
Lemaitre, Rozenn N.;
Xu Lin

Publication type:

Article

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1176, doi. 10.1093/hmg/ddw001

By:

Allen, Edwin H. A.;
Courtney, David G.;
Atkinson, Sarah D.;
Moore, Johnny E.;
Mairs, Laura;
Poulsen, Ebbe Toftgaard;
Schiroli, Davide;
Maurizi, Eleonora;
Cole, Christian;
Hickerson, Robyn P.;
James, John;
Murgatroyd, Helen;
Smith, Frances J. D.;
MacEwen, Carrie;
Enghild, Jan J.;
Nesbit, M. Andrew;
Pedrioli, Deena M. Leslie;
McLean, W. H. Irwin;
Moore, C. B. Tara

Publication type:

Article

Genetic overexpression of Serpina3n attenuates muscular dystrophy in mice.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1192, doi. 10.1093/hmg/ddw005

By:

Tjondrokoesoemo, Andoria;
Schips, Tobias;
Kanisicak, Onur;
Sargent, Michelle A.;
Molkentin, Jeffery D.

Publication type:

Article

Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1074, doi. 10.1093/hmg/ddv631

By:

Gautam, Mukesh;
Jara, Javier H.;
Sekerkova, Gabriella;
Yasvoina, Marina V.;
Martina, Marco;
Özdinler, P. Hande

Publication type:

Article

Fine mapping the MHC region identified four independent variants modifying susceptibility to chronic hepatitis B in Han Chinese.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1225, doi. 10.1093/hmg/ddw003

By:

Meng Zhu;
Juncheng Dai;
Cheng Wang;
Yuzhuo Wang;
Na Qin;
Hongxia Ma;
Ci Song;
Xiangjun Zhai;
Yuan Yang;
Jibin Liu;
Li Liu;
Shengping Li;
Jianjun Liu;
Haitao Yang;
Fengcai Zhu;
Yongyong Shi;
Hongbing Shen;
Guangfu Jin;
Weiping Zhou;
Zhibin Hu

Publication type:

Article

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1203, doi. 10.1093/hmg/ddv492

By:

Figueroa, Jonine D.;
Middlebrooks, Candace D.;
Rouf Banday, A.;
Ye, Yuanqing;
Garcia-Closas, Montserrat;
Chatterjee, Nilanjan;
Koutros, Stella;
Kiemeney, Lambertus A.;
Rafnar, Thorunn;
Bishop, Timothy;
Furberg, Helena;
Matullo, Giuseppe;
Golka, Klaus;
Gago-Dominguez, Manuela;
Taylor, Jack A.;
Fletcher, Tony;
Siddiq, Afshan;
Cortessis, Victoria K.;
Kooperberg, Charles;
Cussenot, Olivier

Publication type:

Article

Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1165, doi. 10.1093/hmg/ddv639

By:

Schön, Christian;
Asteriti, Sabrina;
Koch, Susanne;
Sothilingam, Vithiyanjali;
Garrido, Marina Garcia;
Naoyuki Tanimoto;
Herms, Jochen;
Seeliger, Mathias W.;
Cangiano, Lorenzo;
Biel, Martin;
Michalakis, Stylianos

Publication type:

Article

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1152, doi. 10.1093/hmg/ddv638

By:

Bartram, Malte P.;
Habbig, Sandra;
Pahmeyer, Caroline;
Höhne, Martin;
Weber, Lutz T.;
Thiele, Holger;
Altmüller, Janine;
Kottoor, Nina;
Wenzel, Andrea;
Krueger, Marcus;
Schermer, Bernhard;
Benzing, Thomas;
Rinschen, Markus M.;
Beck, Bodo B.

Publication type:

Article

Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1140, doi. 10.1093/hmg/ddv636

By:

Zhang, Ke K.;
Menglan Xiang;
Lun Zhou;
Jielin Liu;
Curry, Nathan;
Suñer, Damian Heine;
Garcia-Pavia, Pablo;
Xiaohua Zhang;
Qin Wang;
Linglin Xie

Publication type:

Article

Nf1<sup>+/-</sup> monocytes/macrophages induce neointima formation via CCR2 activation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1129, doi. 10.1093/hmg/ddv635

By:

Bessler, Waylan K.;
Kim, Grace;
Hudson, Farlyn Z.;
Mund, Julie A.;
Mali, Raghuveer;
Menon, Keshav;
Kapur, Reuben;
Clapp, D. Wade;
Ingram Jr, David A.;
Stansfield, Brian K.

Publication type:

Article

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1116, doi. 10.1093/hmg/ddv634

By:

Morini, Elisabetta;
Dietrich, Paula;
Salani, Monica;
Downs, Heather M.;
Wojtkiewicz, Gregory R.;
Alli, Shanta;
Brenner, Anthony;
Nilbratt, Mats;
LeClair, John W.;
Oaklander, Anne Louise;
Slaugenhaupt, Susan A.;
Dragatsis, Ioannis

Publication type:

Article

α-Synuclein interferes with the ESCRT-III complex contributing to the pathogenesis of Lewy body disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1100, doi. 10.1093/hmg/ddv633

By:

Spencer, Brian;
Changyoun Kim;
Gonzalez, Tania;
Bisquertt, Alejandro;
Patrick, Christina;
Rockenstein, Edward;
Adame, Anthony;
Seung-Jae Lee;
Desplats, Paula;
Masliah, Eliezer

Publication type:

Article

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1088, doi. 10.1093/hmg/ddv632

By:

Julien, Carl;
Lissouba, Alexandra;
Madabattula, Surya;
Fardghassemi, Yasmin;
Rosenfelt, Cory;
Androschuk, Alaura;
Strautman, Joel;
Wong, Clement;
Bysice, Andrew;
O'sullivan, Julia;
Rouleau, Guy A.;
Drapeau, Pierre;
Parker, J. Alex;
Bolduc, François V.

Publication type:

Article

Wnt4 coordinates directional cell migration and extension of the Müllerian duct essential for ontogenesis of the female reproductive tract.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 6, p. 1059, doi. 10.1093/hmg/ddv621

By:

Prunskaite-Hyyryläinen, Renata;
Skovorodkin, Ilya;
Qi Xu;
Miinalainen, Ilkka;
Jingdong Shan;
Vainio, Seppo J.

Publication type:

Article