Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 22

Results: 20

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4540, doi. 10.1093/hmg/ddx353
Publication type:
Article
Modeling prior information of common genetic variants improves gene discovery for neuroticism.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4530, doi. 10.1093/hmg/ddx340
By:
- Min-Tzu Lo;
- Yunpeng Wang;
- Kauppi, Karolina;
- Sanyal, Nilotpal;
- Chun-Chieh Fan;
- Smeland, Olav B.;
- Schork, Andrew;
- Holland, Dominic;
- Hinds, David A.;
- Tung, Joyce Y.;
- Andreassen, Ole A.;
- Dale, Anders M.;
- Chi-Hua Chen
Publication type:
Article
Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4519, doi. 10.1093/hmg/ddx329
By:
- Padhy, Biswajit;
- Hayat, Bushra;
- Nanda, Gargi Gouranga;
- Mohanty, Pranjya Paramita;
- Alone, Debasmita Pankaj
Publication type:
Article
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4506, doi. 10.1093/hmg/ddx338
By:
- Curiel, Julian;
- Bey, Guillermo Rodríguez;
- Asako Takanohashi;
- Bugiani, Marianna;
- Xiaoqin Fu;
- Wolf, Nicole I.;
- Nmezi, Bruce;
- Schiffmann, Raphael;
- Bugaighis, Mona;
- Pierson, Tyler;
- Helman, Guy;
- Simons, Cas;
- van der Knaap, Marjo S.;
- Liu, Judy;
- Padiath, Quasar;
- Vanderver, Adeline
Publication type:
Article
LRRK2 interacts with ATM and regulates Mdm2-p53 cell proliferation axis in response to genotoxic stress.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4495, doi. 10.1093/hmg/ddx337
By:
- Zhongcan Chen;
- Zhen Cao;
- Wei Zhang;
- Minxia Gu;
- Zhi Dong Zhou;
- Baojie Li;
- Jing Li;
- Eng King Tan;
- Li Zeng
Publication type:
Article
SETD6 dominant negative mutation in familial colorectal cancer type X.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4481, doi. 10.1093/hmg/ddx336
By:
- Martín-Morales, Lorena;
- Feldman, Michal;
- Vershinin, Zlata;
- Garre, Pilar;
- Caldés, Trinidad;
- Levy, Dan
Publication type:
Article
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4465, doi. 10.1093/hmg/ddx334
By:
- Sacristan-Reviriego, Almudena;
- Bellingham, James;
- Prodromou, Chrisostomos;
- Kumaran, Neruban;
- Bainbridge, James;
- Michaelides, Michel;
- van der Spuy, Jacqueline
Publication type:
Article
Peptides of the variable IgG domain as potential biomarker candidates in primary open-angle glaucoma (POAG).
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4451, doi. 10.1093/hmg/ddx332
By:
- Schmelter, Carsten;
- Perumal, Natarajan;
- Funke, Sebastian;
- Bell, Katharina;
- Pfeiffer, Norbert;
- Grus, Franz H.
Publication type:
Article
Alpha-synuclein induces the unfolded protein response in Parkinson's disease SNCA triplication iPSC-derived neurons.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4441, doi. 10.1093/hmg/ddx331
By:
- Heman-Ackah, Sabrina M.;
- Manzano, Raquel;
- Hoozemans, Jeroen J. M.;
- Scheper, Wiep;
- Flynn, Rowan;
- Haerty, Wilfried;
- Cowley, Sally A.;
- Bassett, Andrew R.;
- Wood, Matthew J. A.
Publication type:
Article
PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4429, doi. 10.1093/hmg/ddx330
By:
- Tatsuo Miyamoto;
- Silvia Natsuko Akutsu;
- Akihiro Fukumitsu;
- Hiroyuki Morino;
- Yoshinori Masatsuna;
- Kosuke Hosoba;
- Hideshi Kawakami;
- Takashi Yamamoto;
- Kenji Shimizu;
- Hirofumi Ohashi;
- Shinya Matsuura
Publication type:
Article
FOXOs modulate proteasome activity in human-induced pluripotent stem cells of Huntington's disease and their derived neural cells.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4416, doi. 10.1093/hmg/ddx327
By:
- Yanying Liu;
- Fangfang Qiao;
- Leiferman, Patricia C.;
- Ross, Alan;
- Schlenker, Evelyn H.;
- Hongmin Wang
Publication type:
Article
A pathogenic S250F missense mutation results in a mouse model of mild aromatic L-amino acid decarboxylase (AADC) deficiency.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4406, doi. 10.1093/hmg/ddx326
By:
- Caine, Charlotte;
- Shohat, Meytal;
- Jeong-Ki Kim;
- Koki Nakanishi;
- Shunichi Homma;
- Mosharov, Eugene V.;
- Monani, Umrao R.
Publication type:
Article
Liver-directed gene therapy for murine glycogen storage disease type Ib.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4395, doi. 10.1093/hmg/ddx325
By:
- Joon Hyun Kwon;
- Young Mok Lee;
- Jun-Ho Cho;
- Goo-Young Kim;
- Anduaga, Javier;
- Starost, Matthew F.;
- Mansfield, Brian C.;
- Chou, Janice Y.
Publication type:
Article
Characterization of breakpoint regions of large structural autosomal mosaic events.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4388, doi. 10.1093/hmg/ddx324
By:
- Machiela, Mitchell J.;
- Jessop, Lea;
- Zhou, Weiyin;
- Yeager, Meredith;
- Chanock, Stephen J.
Publication type:
Article
High-throughput screening uncovers miRNAs enhancing glioblastoma cell susceptibility to tyrosine kinase inhibitors.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4375, doi. 10.1093/hmg/ddx323
By:
- Cunha, Pedro P.;
- Costa, Pedro M.;
- Morais, Catarina M.;
- Lopes, Inês R.;
- Cardoso, Ana M.;
- Cardoso, Ana L.;
- Mano, Miguel;
- Jurado, Amália S.;
- de Lima, Maria C. Pedroso
Publication type:
Article
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4367, doi. 10.1093/hmg/ddx322
By:
- Manes, Gaël;
- Joly, Willy;
- Guignard, Thomas;
- Smirnov, Vasily;
- Berthemy, Sylvie;
- Bocquet, Béatrice;
- Audo, Isabelle;
- Zeitz, Christina;
- Sahel, José;
- Cazevieille, Chantal;
- Sénéchal, Audrey;
- Deleuze, Jean-François;
- Blanché-Koch, Hélène;
- Boland, Anne;
- Carroll, Patrick;
- Geneviève, David;
- Zanlonghi, Xavier;
- Arndt, Carl;
- Hamel, Christian P.;
- Defoort-Dhellemmes, Sabine
Publication type:
Article
Impaired axonal retrograde trafficking of the retromer complex augments lysosomal deficits in Alzheimer's disease neurons.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4352, doi. 10.1093/hmg/ddx321
By:
- Tammineni, Prasad;
- Yu Young Jeong;
- Tuancheng Feng;
- Aikal, Daniyal;
- Qian Cai
Publication type:
Article
LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4340, doi. 10.1093/hmg/ddx320
By:
- Howlett, Evan H.;
- Jensen, Nicholas;
- Belmonte, Frances;
- Zafar, Faria;
- Xiaoping Hu;
- Kluss, Jillian;
- Schüle, Birgitt;
- Kaufman, Brett A.;
- Greenamyre, J. T.;
- Sanders, Laurie H.
Publication type:
Article
Retinal pigment epithelium cholesterol efflux mediated by the 18 kDa translocator protein, TSPO, a potential target for treating age-related macular degeneration.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4327, doi. 10.1093/hmg/ddx319
By:
- Biswas, Lincoln;
- Xinzhi Zhou;
- Dhillon, Baljean;
- Graham, Annette;
- Xinhua Shu
Publication type:
Article
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 22, p. 4315, doi. 10.1093/hmg/ddx318
By:
- Giri, Dinesh;
- Vignola, Maria Lillina;
- Gualtieri, Angelica;
- Scagliotti, Valeria;
- McNamara, Paul;
- Peak, Matthew;
- Didi, Mohammed;
- Gaston-Massuet, Carles;
- Senniappan, Senthil
Publication type:
Article