Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 22

Results: 31

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu549
Publication type:: Article

Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6119, doi. 10.1093/hmg/ddu315

By:

Liao, Jiemin;
Su, Xinyi;
Chen, Peng;
Wang, Xu;
Xu, Liang;
Li, Xiang;
Thean, Lennard;
Tan, Clement;
Tan, Ava G.;
Tay, Wan-Ting;
Jun, Gyungah;
Zheng, Yingfeng;
Chew, Merwyn;
Wang, Ya Xing;
Tan, Queenie S.;
Barathi, Veluchamy A.;
Klein, Barbara E.;
Saw, Seang-Mei;
Vithana, Eranga N.;
Tai, E-Shyong

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu547
Publication type:: Article

Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6008, doi. 10.1093/hmg/ddu330

By:

Li, Xiaolei;
Zhang, Yan;
Zhao, Luyang;
Wang, Lingxiong;
Wu, Zhiqiang;
Mei, Qian;
Nie, Jing;
Li, Xiang;
Li, Yali;
Fu, Xiaobing;
Wang, Xiaoning;
Meng, Yuanguang;
Han, Weidong

Publication type:

Article

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6034, doi. 10.1093/hmg/ddu300

By:

Purrington, Kristen S.;
Slettedahl, Seth;
Bolla, Manjeet K.;
Michailidou, Kyriaki;
Czene, Kamila;
Nevanlinna, Heli;
Bojesen, Stig E.;
Andrulis, Irene L.;
Cox, Angela;
Hall, Per;
Carpenter, Jane;
Yannoukakos, Drakoulis;
Haiman, Christopher A.;
Fasching, Peter A.;
Mannermaa, Arto;
Winqvist, Robert;
Brenner, Hermann;
Lindblom, Annika;
Chenevix-Trench, Georgia;
Benitez, Javier

Publication type:

Article

Pathway analysis of cervical cancer genome-wide association study highlights the MHC region and pathways involved in response to infection.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6047, doi. 10.1093/hmg/ddu304

By:

Chen, Dan;
Enroth, Stefan;
Ivansson, Emma;
Gyllensten, Ulf

Publication type:

Article

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5976, doi. 10.1093/hmg/ddu321

By:

Gossage, Lucy;
Pires, Douglas E. V.;
Olivera-Nappa, Álvaro;
Asenjo, Juan;
Bycroft, Mark;
Blundell, Tom L.;
Eisen, Tim

Publication type:

Article

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6069, doi. 10.1093/hmg/ddu306

By:

Reinthaler, Eva M.;
Lal, Dennis;
Lebon, Sebastien;
Hildebrand, Michael S.;
Dahl, Hans-Henrik M.;
Regan, Brigid M.;
Feucht, Martha;
Steinböck, Hannelore;
Neophytou, Birgit;
Ronen, Gabriel M.;
Roche, Laurian;
Gruber-Sedlmayr, Ursula;
Geldner, Julia;
Haberlandt, Edda;
Hoffmann, Per;
Herms, Stefan;
Gieger, Christian;
Waldenberger, Melanie;
Franke, Andre;
Wittig, Michael

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu548
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu550
Publication type:: Article

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6096

By:

Milne, Roger L.;
Burwinkel, Barbara;
Michailidou, Kyriaki;
Arias-Perez, Jose-Ignacio;
Zamora, M. Pilar;
Menéndez-Rodríguez, Primitiva;
Hardisson, David;
Mendiola, Marta;
González-Neira, Anna;
Pita, Guillermo;
Alonso, M. Rosario;
Dennis, Joe;
Wang, Qin;
Bolla, Manjeet K.;
Swerdlow, Anthony;
Ashworth, Alan;
Orr, Nick;
Schoemaker, Minouk;
Ko, Yon-Dschun;
Brauch, Hiltrud

Publication type:

Article

Excess of homozygosity in the major histocompatibility complex in schizophrenia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6088, doi. 10.1093/hmg/ddu308

By:

Mukherjee, Semanti;
Guha, Saurav;
Ikeda, Masashi;
Iwata, Nakao;
Malhotra, Anil K.;
Pe'er, Itsik;
Darvasi, Ariel;
Lencz, Todd

Publication type:

Article

Golgi fragmentation in pmn mice is due to a defective ARF1/TBCE cross-talk that coordinates COPI vesicle formation and tubulin polymerization.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5961, doi. 10.1093/hmg/ddu320

By:

Bellouze, Sarah;
Schäfer, Michael K;
Buttigieg, Dorothée;
Baillat, Gilbert;
Rabouille, Catherine;
Haase, Georg

Publication type:

Article

Linking the genetic architecture of cytosine modifications with human complex traits.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5893, doi. 10.1093/hmg/ddu313

By:

Zhang, Xu;
Moen, Erika L.;
Liu, Cong;
Mu, Wenbo;
Gamazon, Eric R.;
Delaney, Shannon M.;
Wing, Claudia;
Godley, Lucy A.;
Dolan, M. Eileen;
Zhang, Wei

Publication type:

Article

Ubiquitin-specific protease-14 reduces cellular aggregates and protects against mutant huntingtin-induced cell degeneration: involvement of the proteasome and ER stress-activated kinase IRE1α.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5928, doi. 10.1093/hmg/ddu317

By:

Hyrskyluoto, Alise;
Bruelle, Céline;
Lundh, Sofia H.;
Do, Hai Thi;
Kivinen, Jenny;
Rappou, Elisabeth;
Reijonen, Sami;
Waltimo, Tuure;
Petersén, Åsa;
Lindholm, Dan;
Korhonen, Laura

Publication type:

Article

Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6061, doi. 10.1093/hmg/ddu305

By:

Koster, Roelof;
Mitra, Nandita;
D'Andrea, Kurt;
Vardhanabhuti, Saran;
Chung, Charles C.;
Wang, Zhaoming;
Loren Erickson, R.;
Vaughn, David J.;
Litchfield, Kevin;
Rahman, Nazneen;
Greene, Mark H.;
McGlynn, Katherine A.;
Turnbull, Clare;
Chanock, Stephen J.;
Nathanson, Katherine L.;
Kanetsky, Peter A.

Publication type:

Article

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5940, doi. 10.1093/hmg/ddu318

By:

Khan, Muzammil A.;
Rupp, Verena M.;
Orpinell, Meritxell;
Hussain, Muhammad S.;
Altmüller, Janine;
Steinmetz, Michel O.;
Enzinger, Christian;
Thiele, Holger;
Höhne, Wolfgang;
Nürnberg, Gudrun;
Baig, Shahid M.;
Ansar, Muhammad;
Nürnberg, Peter;
Vincent, John B.;
Speicher, Michael R.;
Gönczy, Pierre;
Windpassinger, Christian

Publication type:

Article

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi–Goutières syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5950, doi. 10.1093/hmg/ddu319

By:

Kind, Barbara;
Muster, Britta;
Staroske, Wolfgang;
Herce, Henry D.;
Sachse, René;
Rapp, Alexander;
Schmidt, Franziska;
Koss, Sarah;
Cardoso, M. Cristina;
Lee-Kirsch, Min Ae

Publication type:

Article

Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5866, doi. 10.1093/hmg/ddu309

By:

Ezkurdia, Iakes;
Juan, David;
Rodriguez, Jose Manuel;
Frankish, Adam;
Diekhans, Mark;
Harrow, Jennifer;
Vazquez, Jesus;
Valencia, Alfonso;
Tress, Michael L.

Publication type:

Article

Neuropeptide precursor VGF is genetically associated with social anhedonia and underrepresented in the brain of major mental illness: its downregulation by DISC1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5859, doi. 10.1093/hmg/ddu303

By:

Ramos, Adriana;
Rodríguez-Seoane, Carmen;
Rosa, Isaac;
Trossbach, Svenja V.;
Ortega-Alonso, Alfredo;
Tomppo, Liisa;
Ekelund, Jesper;
Veijola, Juha;
Järvelin, Marjo-Riitta;
Alonso, Jana;
Veiga, Sonia;
Sawa, Akira;
Hennah, William;
García, Ángel;
Korth, Carsten;
Requena, Jesús R.

Publication type:

Article

CMPK1 and RBP3 are associated with corneal curvature in Asian populations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6129, doi. 10.1093/hmg/ddu322

By:

Chen, Peng;
Miyake, Masahiro;
Fan, Qiao;
Liao, Jiemin;
Yamashiro, Kenji;
Ikram, Mohammad K.;
Chew, Merywn;
Vithana, Eranga N.;
Khor, Chiea-Chuen;
Aung, Tin;
Tai, E-Shyong;
Wong, Tien-Yin;
Teo, Yik-Ying;
Yoshimura, Nagahisa;
Saw, Seang-Mei;
Cheng, Ching-Yu

Publication type:

Article

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5998, doi. 10.1093/hmg/ddu329

By:

Montioli, Riccardo;
Roncador, Alessandro;
Oppici, Elisa;
Mandrile, Giorgia;
Giachino, Daniela Francesca;
Cellini, Barbara;
Borri Voltattorni, Carla

Publication type:

Article

CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5906, doi. 10.1093/hmg/ddu314

By:

Galloway, Jocelyn N.;
Shaw, Chad;
Yu, Peng;
Parghi, Deena;
Poidevin, Mickael;
Jin, Peng;
Nelson, David L.

Publication type:

Article

Most common ‘sporadic’ cancers have a significant germline genetic component.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6112, doi. 10.1093/hmg/ddu312

By:

Lu, Yi;
Ek, Weronica E.;
Whiteman, David;
Vaughan, Thomas L.;
Spurdle, Amanda B.;
Easton, Douglas F.;
Pharoah, Paul D.;
Thompson, Deborah J.;
Dunning, Alison M.;
Hayward, Nicholas K.;
Chenevix-Trench, Georgia;
Macgregor, Stuart

Publication type:

Article

Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5916, doi. 10.1093/hmg/ddu316

By:

Kashyap, Sudhanva S.;
Johnson, James R.;
McCue, Hannah V.;
Chen, Xi;
Edmonds, Matthew J.;
Ayala, Mimieveshiofuo;
Graham, Margaret E.;
Jenn, Robert C.;
Barclay, Jeff W.;
Burgoyne, Robert D.;
Morgan, Alan

Publication type:

Article

Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5989, doi. 10.1093/hmg/ddu323

By:

Becirovic, Elvir;
Nguyen, O.N. Phuong;
Paparizos, Christos;
Butz, Elisabeth S.;
Stern-Schneider, Gabi;
Wolfrum, Uwe;
Hauck, Stefanie M.;
Ueffing, Marius;
Wahl-Schott, Christian;
Michalakis, Stylianos;
Biel, Martin

Publication type:

Article

Genetic prion disease: no role for the immune system in disease pathogenesis?

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6138, doi. 10.1093/hmg/ddu463

By:

Friedman-Levi, Yael;
Binyamin, Orli;
Frid, Kati;
Ovadia, Haim;
Gabizon, Ruth

Publication type:

Article

Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1).

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6022, doi. 10.1093/hmg/ddu331

By:

Tortelli, Brett;
Fujiwara, Hideji;
Bagel, Jessica H.;
Zhang, Jessie;
Sidhu, Rohini;
Jiang, Xuntian;
Yanjanin, Nicole M.;
Shankar, Roopa Kanakatti;
Carillo-Carasco, Nuria;
Heiss, John;
Ottinger, Elizabeth;
Porter, Forbes D.;
Schaffer, Jean E.;
Vite, Charles H.;
Ory, Daniel S.

Publication type:

Article

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6081, doi. 10.1093/hmg/ddu307

By:

Kuiper, Jonas J.W.;
Van Setten, Jessica;
Ripke, Stephan;
Van ‘T Slot, Ruben;
Mulder, Flip;
Missotten, Tom;
Baarsma, G. Seerp;
Francioli, Laurent C.;
Pulit, Sara L.;
De Kovel, Carolien G.F.;
Ten Dam-Van Loon, Ninette;
Den Hollander, Anneke I.;
Huis in het Veld, Paulien;
Hoyng, Carel B.;
Cordero-Coma, Miguel;
Martín, Javier;
Llorenç, Victor;
Arya, Bharti;
Thomas, Dhanes;
Bakker, Steven C.

Publication type:

Article

Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 5879, doi. 10.1093/hmg/ddu310

By:

Chapman, Mark A.;
Zhang, Jianlin;
Banerjee, Indroneal;
Guo, Ling T.;
Zhang, Zhiwei;
Shelton, G. Diane;
Ouyang, Kunfu;
Lieber, Richard L.;
Chen, Ju

Publication type:

Article

Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 22, p. 6137, doi. 10.1093/hmg/ddu452

By:

Nistala, Harikiran;
Lee-Arteaga, Sui;
Carta, Luca;
Cook, Jason R.;
Smaldone, Silvia;
Siciliano, Gabriella;
Rifkin, Aaron N.;
Dietz, Harry C.;
Rifkin, Daniel B.;
Ramirez, Francesco

Publication type:

Article