Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 16

Results: 21

The PINK1, synphilin-1 and SIAH-1 complex constitutes a novel mitophagy pathway.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3476, doi. 10.1093/hmg/ddw189

By:

Szargel, Raymonde;
Shani, Vered;
Elghani, Fatimah Abd;
Mekies, Lucy N.;
Liani, Esti;
Rott, Ruth;
Engelender, Simone

Publication type:

Article

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3578, doi. 10.1093/hmg/ddw203

By:

Smith, Claire E. L.;
Murillo, Gina;
Brookes, Steven J.;
Poulter, James A.;
Silva, Sandra;
Kirkham, Jennifer;
Inglehearn, Chris F.;
Mighell, Alan J.

Publication type:

Article

Genetic ablation of IP<sub>3</sub> receptor 2 increases cytokines and decreases survival of SOD1<sup>G93A</sup> mice.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3491, doi. 10.1093/hmg/ddw190

By:

Staats, Kim A.;
Humblet-Baron, Stephanie;
Bento-Abreu, Andre;
Scheveneels, Wendy;
Nikolaou, Alexandros;
Deckers, Kato;
Lemmens, Robin;
Goris, An;
Van Ginderachter, Jo A.;
Van Damme, Philip;
Chihiro Hisatsune;
Mikoshiba, Katsuhiko;
Liston, Adrian;
Robberecht, Wim;
Van Den Bosch, Ludo

Publication type:

Article

A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3407, doi. 10.1093/hmg/ddw183

By:

Martín-Sierra, Carmen;
Requena, Teresa;
Frejo, Lidia;
Price, Steven D.;
Gallego-Martinez, Alvaro;
Batuecas-Caletrio, Angel;
Santos-Pérez, Sofía;
Soto-Varela, Andrés;
Lysakowski, Anna;
Lopez-Escamez, Jose A.

Publication type:

Article

Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3600, doi. 10.1093/hmg/ddw196

By:

Permuth, Jennifer B.;
Pirie, Ailith;
Chen, Y. Ann;
Hui-Yi Lin;
Reid, Brett M.;
Zhihua Chen;
Monteiro, Alvaro;
Dennis, Joe;
Mendoza-Fandino, Gustavo;
Anton-Culver, Hoda;
Bandera, Elisa V.;
Bisogna, Maria;
Brinton, Louise;
Brooks-Wilson, Angela;
Carney, Michael E.;
Chenevix-Trench, Georgia;
Cook, Linda S.;
Cramer, Daniel W.;
Cunningham, Julie M.;
Cybulski, Cezary

Publication type:

Article

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3416, doi. 10.1093/hmg/ddw184

By:

Moosajee, Mariya;
Tracey-White, Dhani;
Smart, Matthew;
Weetall, Marla;
Torriano, Simona;
Kalatzis, Vasiliki;
da Cruz, Lyndon;
Coffey, Peter;
Webster, Andrew R.;
Welch, Ellen

Publication type:

Article

Motor neuron mitochondrial dysfunction in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3395, doi. 10.1093/hmg/ddw262

By:

Miller, Nimrod;
Shi, Han;
Zelikovich, Aaron S.;
Yong-Chao Ma

Publication type:

Article

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3446, doi. 10.1093/hmg/ddw186

By:

Bashamboo, Anu;
Donohoue, Patricia A.;
Vilain, Eric;
Rojo, Sandra;
Calvel, Pierre;
Seneviratne, Sumudu N.;
Buonocore, Federica;
Barseghyan, Hayk;
Bingham, Nathan;
Rosenfeld, Jill A.;
Mulukutla, Surya Narayan;
Jain, Mahim;
Burrage, Lindsay;
Dhar, Shweta;
Balasubramanyam, Ashok;
Lee, Brendan;
Dumargne, Marie-Charlotte;
Eozenou, Caroline;
Suntharalingham, Jenifer P.;
de Silva, K S H

Publication type:

Article

LRRK2 modulates microglial activity through regulation of chemokine (C-X3-C) receptor 1 -mediated signalling pathways.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3515, doi. 10.1093/hmg/ddw194

By:

Bo Ma;
Leyan Xu;
Xiaodong Pan;
Lixin Sun;
Jinhui Ding;
Chengsong Xie;
Koliatsos, Vassilis E.;
Huaibin Cai

Publication type:

Article

Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3555, doi. 10.1093/hmg/ddw201

By:

Peccate, Cécile;
Mollard, Amédée;
Le Hir, Maëva;
Julien, Laura;
McClorey, Graham;
Jarmin, Susan;
Le Heron, Anita;
Dickson, George;
Benkhelifa-Ziyyat, Sofia;
Piétri-Rouxel, France;
Wood, Matthew J.;
Voit, Thomas;
Lorain, Stéphanie

Publication type:

Article

Transcriptome sequencing reveals aberrant alternative splicing in Huntington's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3454, doi. 10.1093/hmg/ddw187

By:

Lan Lin;
Juw Won Park;
Ramachandran, Shyam;
Yida Zhang;
Yu-Ting Tseng;
Shihao Shen;
Waldvogel, Henry J.;
Curtis, Maurice A.;
Faull, Richard L. M.;
Troncoso, Juan C.;
Pletnikova, Olga;
Ross, Christopher A.;
Davidson, Beverly L.;
Yi Xing

Publication type:

Article

The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3500, doi. 10.1093/hmg/ddw193

By:

Chakraborty, Dibyendu;
Conley, Shannon M.;
Zulliger, Rahel;
Naash, Muna I.

Publication type:

Article

Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3564, doi. 10.1093/hmg/ddw202

By:

Azar, Ali;
Piccinelli, Chiara;
Brown, Helen;
Headon, Denis;
Cheeseman, Michael

Publication type:

Article

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3432, doi. 10.1093/hmg/ddw185

By:

Magalhaes, Joana;
Gegg, Matthew E.;
Migdalska-Richards, Anna;
Doherty, Mary K.;
Whitfield, Phillip D.;
Schapira, Anthony H. V.

Publication type:

Article

A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3635, doi. 10.1093/hmg/ddw211

By:

Lamina, Claudia;
Friedel, Salome;
Coassin, Stefan;
Rueedi, Rico;
Yousri, Noha A.;
Seppälä, Ilkka;
Gieger, Christian;
Schönherr, Sebastian;
Forer, Lukas;
Erhart, Gertraud;
Kollerits, Barbara;
Marques-Vidal, Pedro;
Ried, Janina;
Waeber, Gerard;
Bergmann, Sven;
Dähnhardt, Doreen;
Stöckl, Andrea;
Kiechl, Stefan;
Raitakari, Olli T.;
Kähönen, Mika

Publication type:

Article

Cancer-associated isocitrate dehydrogenase mutations induce mitochondrial DNA instability.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3524, doi. 10.1093/hmg/ddw195

By:

Kingsbury, Joanne M.;
Shamaprasad, Nachiketha;
Billmyre, R. Blake;
Heitman, Joseph;
Cardenas, Maria E.

Publication type:

Article

Identification of plexin A4 as a novel clusterin receptor links two Alzheimer's disease risk genes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3467, doi. 10.1093/hmg/ddw188

By:

Kang, Silvia S.;
Kurti, Aishe;
Wojtas, Aleksandra;
Baker, Kelsey E.;
Liu, Chia-Chen;
Kanekiyo, Takahisa;
Deming, Yuetiva;
Cruchaga, Carlos;
Estus, Steven;
Bu, Guojun;
Fryer, John D.

Publication type:

Article

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber' s hereditary optic neuropathy-associated mitochondrial DNA mutation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3613, doi. 10.1093/hmg/ddw199

By:

Pingping Jiang;
Min Liang;
Chaofan Zhang;
Xiaoxu Zhao;
Qiufen He;
Limei Cui;
Xiaoling Liu;
Yan-Hong Sun;
Qun Fu;
Yanchun Ji;
Yidong Bai;
Taosheng Huang;
Min-Xin Guan

Publication type:

Article

An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinoma.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3626, doi. 10.1093/hmg/ddw200

By:

Qian Cui;
Qi-Sheng Feng;
Hao-Yuan Mo;
Jian Sun;
Yun-Fei Xia;
Hongxing Zhang;
Jia Nee Foo;
Yun-Miao Guo;
Li-Zhen Chen;
Ming Li;
Wen-Sheng Liu;
Miao Xu;
Gangqiao Zhou;
Fuchu He;
Xueqing Yu;
Wei-HuaJia;
Jianjun Liu;
Yi-Xin Zeng;
Jin-Xin Bei

Publication type:

Article

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3588, doi. 10.1093/hmg/ddw204

By:

Ebrahimi-Fakhari, Darius;
Wahlster, Lara;
Bartz, Fabian;
Werenbeck-Ueding, Jennifer;
Praggastis, Maria;
Zhang, Jessie;
Joggerst-Thomalla, Brigitte;
Theiss, Susanne;
Grimm, Dirk;
Ory, Daniel S.;
Runz, Heiko

Publication type:

Article

Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 16, p. 3539, doi. 10.1093/hmg/ddw198

By:

Asad, Zainab;
Pandey, Aditi;
Babu, Aswini;
Sun, Yuhan;
Shevade, Kaivalya;
Kapoor, Shruti;
Ullah, Ikram;
Ranjan, Shashi;
Scaria, Vinod;
Bajpai, Ruchi;
Sachidanandan, Chetana

Publication type:

Article