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

Results: 20

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

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

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

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

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

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

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

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