Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 11

Results: 26

PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2926, doi. 10.1093/hmg/ddu005

By:

Chen, Xue;
Liu, Yuan;
Sheng, Xunlun;
Tam, Pancy O. S.;
Zhao, Kanxing;
Chen, Xuejuan;
Rong, Weining;
Liu, Yani;
Liu, Xiaoxing;
Pan, Xinyuan;
Chen, Li Jia;
Zhao, Qingshun;
Vollrath, Douglas;
Pang, Chi Pui;
Zhao, Chen

Publication type:

Article

Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 3035, doi. 10.1093/hmg/ddu020

By:

Warr, Nick;
Siggers, Pam;
Carré, Gwenn-Aël;
Bogani, Debora;
Brixey, Rachel;
Akiyoshi, Mika;
Tachibana, Makoto;
Teboul, Lydia;
Wells, Sara;
Sanderson, Jeremy;
Greenfield, Andy

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu221
Publication type:: Article

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 3024, doi. 10.1093/hmg/ddu019

By:

Zhang, Xinjun;
Lin, Hai;
Zhao, Huiying;
Hao, Yangyang;
Mort, Matthew;
Cooper, David N.;
Zhou, Yaoqi;
Liu, Yunlong

Publication type:

Article

Drebrin E depletion in human intestinal epithelial cells mimics Rab8a loss of function.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2834, doi. 10.1093/hmg/ddt670

By:

Vacca, Barbara;
Bazellières, Elsa;
Nouar, Roqiya;
Harada, Akihiro;
Massey-Harroche, Dominique;
Le Bivic, André

Publication type:

Article

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2816, doi. 10.1093/hmg/ddu099

By:

Kong, Stephanie M.Y.;
Chan, Brian K.K.;
Park, Jin-Sung;
Hill, Kathryn J.;
Aitken, Jade B.;
Cottle, Louise;
Farghaian, Hovik;
Cole, Adam R.;
Lay, Peter A.;
Sue, Carolyn M.;
Cooper, Antony A.

Publication type:

Article

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888

By:

Kaiser, Frank J.;
Ansari, Morad;
Braunholz, Diana;
Concepción Gil-Rodríguez, María;
Decroos, Christophe;
Wilde, Jonathan J.;
Fincher, Christopher T.;
Kaur, Maninder;
Bando, Masashige;
Amor, David J.;
Atwal, Paldeep S.;
Bahlo, Melanie;
Bowman, Christine M.;
Bradley, Jacquelyn J.;
Brunner, Han G.;
Clark, Dinah;
Del Campo, Miguel;
Di Donato, Nataliya;
Diakumis, Peter;
Dubbs, Holly

Publication type:

Article

Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2981, doi. 10.1093/hmg/ddu009

By:

Jia, Sujuan;
Muto, Akira;
Orisme, Wilda;
Henson, Hannah E.;
Parupalli, Chaithanyarani;
Ju, Bensheng;
Baier, Herwig;
Taylor, Michael R.

Publication type:

Article

Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2953, doi. 10.1093/hmg/ddu007

By:

Mizuhashi, Koji;
Kanamoto, Takashi;
Moriishi, Takeshi;
Muranishi, Yuki;
Miyazaki, Toshihiro;
Terada, Koji;
Omori, Yoshihiro;
Ito, Masako;
Komori, Toshihisa;
Furukawa, Takahisa

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu220
Publication type:: Article

Identification and analysis of large intergenic non-coding RNAs regulated by p53 family members through a genome-wide analysis of p53-binding sites.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2847, doi. 10.1093/hmg/ddt673

By:

Idogawa, Masashi;
Ohashi, Tomoko;
Sasaki, Yasushi;
Maruyama, Reo;
Kashima, Lisa;
Suzuki, Hiromu;
Tokino, Takashi

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu229
Publication type:: Article

Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2968, doi. 10.1093/hmg/ddu008

By:

Williams, Emily Cunningham;
Zhong, Xiaofen;
Mohamed, Ahmed;
Li, Ronghui;
Liu, Yan;
Dong, Qiping;
Ananiev, Gene E.;
Mok, Jonathan Chern Choong;
Lin, Benjamin Ray;
Lu, Jianfeng;
Chiao, Cassandra;
Cherney, Rachel;
Li, Hongda;
Zhang, Su-Chun;
Chang, Qiang

Publication type:

Article

FGFR3 mutation causes abnormal membranous ossification in achondroplasia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2914, doi. 10.1093/hmg/ddu004

By:

Di Rocco, Federico;
Biosse Duplan, Martin;
Heuzé, Yann;
Kaci, Nabil;
Komla-Ebri, Davide;
Munnich, Arnold;
Mugniery, Emilie;
Benoist-Lasselin, Catherine;
Legeai-Mallet, Laurence

Publication type:

Article

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2802, doi. 10.1093/hmg/ddt623

By:

Park, Jin-Sung;
Koentjoro, Brianada;
Veivers, David;
Mackay-Sim, Alan;
Sue, Carolyn M.

Publication type:

Article

Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2791, doi. 10.1093/hmg/ddt572

By:

Tsunemi, Taiji;
Krainc, Dimitri

Publication type:

Article

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2880, doi. 10.1093/hmg/ddu001

By:

Dauber, Andrew;
Ercan, Altan;
Lee, Jack;
James, Philip;
Jacobs, Pieter P.;
Ashline, David J.;
Wang, Sophie R.;
Miller, Timothy;
Hirschhorn, Joel N.;
Nigrovic, Peter A.;
Sackstein, Robert

Publication type:

Article

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 3054, doi. 10.1093/hmg/ddt675

By:

Moayyeri, Alireza;
Hsu, Yi-Hsiang;
Karasik, David;
Estrada, Karol;
Xiao, Su-Mei;
Nielson, Carrie;
Srikanth, Priya;
Giroux, Sylvie;
Wilson, Scott G.;
Zheng, Hou-Feng;
Smith, Albert V.;
Pye, Stephen R.;
Leo, Paul J.;
Teumer, Alexander;
Hwang, Joo-Yeon;
Ohlsson, Claes;
McGuigan, Fiona;
Minster, Ryan L.;
Hayward, Caroline;
Olmos, José M.

Publication type:

Article

Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 3069, doi. 10.1093/hmg/ddu098

By:

Aliaga, Leonardo;
Lai, Chen;
Yu, Jia;
Chub, Nikolai;
Shim, Hoon;
Sun, Lixin;
Xie, Chengsong;
Yang, Wan-Jou;
Lin, Xian;
O'Donovan, Michael J.;
Cai, Huaibin

Publication type:

Article

Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2901, doi. 10.1093/hmg/ddu003

By:

Bourens, Myriam;
Boulet, Aren;
Leary, Scot C.;
Barrientos, Antoni

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu219
Publication type:: Article

c-Abl phosphorylates α-synuclein and regulates its degradation: implication for α-synuclein clearance and contribution to the pathogenesis of Parkinson's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2858, doi. 10.1093/hmg/ddt674

By:

Mahul-Mellier, Anne-Laure;
Fauvet, Bruno;
Gysbers, Amanda;
Dikiy, Igor;
Oueslati, Abid;
Georgeon, Sandrine;
Lamontanara, Allan J.;
Bisquertt, Alejandro;
Eliezer, David;
Masliah, Eliezer;
Halliday, Glenda;
Hantschel, Oliver;
Lashuel, Hilal A.

Publication type:

Article

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 3045, doi. 10.1093/hmg/ddt671

By:

Stacey, Simon N.;
Sulem, Patrick;
Gudbjartsson, Daniel F.;
Jonasdottir, Aslaug;
Thorleifsson, Gudmar;
Gudjonsson, Sigurjon A.;
Masson, Gisli;
Gudmundsson, Julius;
Sigurgeirsson, Bardur;
Benediktsdottir, Kristrun R.;
Thorisdottir, Kristin;
Ragnarsson, Rafn;
Fuentelsaz, Victoria;
Corredera, Cristina;
Grasa, Matilde;
Planelles, Dolores;
Sanmartin, Onofre;
Rudnai, Peter;
Gurzau, Eugene;
Koppova, Kvetoslava

Publication type:

Article

Interactions between Tau and α-synuclein augment neurotoxicity in a Drosophila model of Parkinson's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 3008, doi. 10.1093/hmg/ddu011

By:

Roy, Bidisha;
Jackson, George R.

Publication type:

Article

Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2940, doi. 10.1093/hmg/ddu006

By:

Yudkin, Dmitry;
Hayward, Bruce E.;
Aladjem, Mirit I.;
Kumari, Daman;
Usdin, Karen

Publication type:

Article

A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2995, doi. 10.1093/hmg/ddu010

By:

Smith, Marianne R.;
Syed, Adeela;
Lukacsovich, Tamas;
Purcell, Judy;
Barbaro, Brett A.;
Worthge, Shane A.;
Wei, Stephen R.;
Pollio, Giuseppe;
Magnoni, Letizia;
Scali, Carla;
Massai, Luisa;
Franceschini, Davide;
Camarri, Michela;
Gianfriddo, Marco;
Diodato, Enrica;
Thomas, Russell;
Gokce, Ozgun;
Tabrizi, S.J.;
Caricasole, Andrea;
Landwehrmeyer, Bernard

Publication type:

Article