Works matching IS 0964-6906 AND VI 24 AND IP 5 AND DT 2015

Results: 29

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1410

By:

Shaheen, Ranad;
Schmidts, Miriam;
Faqeih, Eissa;
Hashem, Amal;
Lausch, Ekkehart;
Holder, Isabel;
Superti-Furga, Andrea;
Mitchison, Hannah M.;
Almoisheer, Agaadir;
Alamro, Rana;
Alshiddi, Tarfa;
Alzahrani, Fatma;
Beales, Philip L.;
Alkuraya, Fowzan S.

Publication type:

Article

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1234, doi. 10.1093/hmg/ddu534

By:

McInerney-Leo, Aideen M.;
Sparrow, Duncan B.;
Harris, Jessica E.;
Gardiner, Brooke B.;
Marshall, Mhairi S.;
O'Reilly, Victoria C.;
Shi, Hongjun;
Brown, Matthew A.;
Leo, Paul J.;
Zankl, Andreas;
Dunwoodie, Sally L.;
Duncan, Emma L.

Publication type:

Article

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1478

By:

Painter, Jodie N.;
O'Mara, Tracy A.;
Batra, Jyotsna;
Cheng, Timothy;
Lose, Felicity A.;
Dennis, Joe;
Michailidou, Kyriaki;
Tyrer, Jonathan P.;
Ahmed, Shahana;
Ferguson, Kaltin;
Healey, Catherine S.;
Kaufmann, Susanne;
Hillman, Kristine M.;
Walpole, Carina;
Moya, Leire;
Pollock, Pamela;
Jones, Angela;
Howarth, Kimberley;
Martin, Lynn;
Gorman, Maggie

Publication type:

Article

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1504, doi. 10.1093/hmg/ddu560

By:

Wood, Andrew R.;
Tuke, Marcus A.;
Nalls, Mike;
Hernandez, Dena;
Gibbs, J. Raphael;
Lin, Haoxiang;
Xu, Christopher S.;
Li, Qibin;
Shen, Juan;
Jun, Goo;
Almeida, Marcio;
Tanaka, Toshiko;
Perry, John R. B.;
Gaulton, Kyle;
Rivas, Manny;
Pearson, Richard;
Curran, Joanne E.;
Johnson, Matthew P.;
Göring, Harald H. H.;
Duggirala, Ravindranath

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 5, p. NP, doi. 10.1093/hmg/ddu717
Publication type:: Article

Indications for distinct pathogenic mechanisms of asbestos and silica through gene expression profiling of the response of lung epithelial cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1374, doi. 10.1093/hmg/ddu551

By:

Perkins, Timothy N.;
Peeters, Paul M.;
Shukla, Arti;
Arijs, Ingrid;
Dragon, Julie;
Wouters, Emiel F.M.;
Reynaert, Niki L.;
Mossman, Brooke T.

Publication type:

Article

Aged monkey brains reveal the role of ubiquitin-conjugating enzyme UBE2N in the synaptosomal accumulation of mutant huntingtin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1350, doi. 10.1093/hmg/ddu544

By:

Yin, Peng;
Tu, Zhuchi;
Yin, An;
Zhao, Ting;
Yan, Sen;
Guo, Xiangyu;
Chang, Renbao;
Zhang, Lianhe;
Hong, Yan;
Huang, Xiahe;
Zhou, Junxia;
Wang, Yingchun;
Li, Shihua;
Li, Xiao-Jiang

Publication type:

Article

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1211, doi. 10.1093/hmg/ddu532

By:

Ramani, Biswarathan;
Harris, Ginny M.;
Huang, Rogerio;
Seki, Takahiro;
Murphy, Geoffrey G.;
Costa, Maria do Carmo;
Fischer, Svetlana;
Saunders, Thomas L.;
Xia, Guangbin;
McEachin, Richard C.;
Paulson, Henry L.

Publication type:

Article

‘Neonatal’ Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1457, doi. 10.1093/hmg/ddu562

By:

Gazina, Elena V.;
Leaw, Bryan T.W.;
Richards, Kay L.;
Wimmer, Verena C.;
Kim, Tae H.;
Aumann, Timothy D.;
Featherby, Travis J.;
Churilov, Leonid;
Hammond, Vicki E.;
Reid, Christopher A.;
Petrou, Steven

Publication type:

Article

Selective disruption of Tcf7l2 in the pancreatic β cell impairs secretory function and lowers β cell mass.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1390, doi. 10.1093/hmg/ddu553

By:

Mitchell, Ryan K.;
Mondragon, Angeles;
Chen, Lingling;
Mcginty, James A.;
French, Paul M.;
Ferrer, Jorge;
Thorens, Bernard;
Hodson, David J.;
Rutter, Guy A.;
Da Silva Xavier, Gabriela

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 5, p. NP, doi. 10.1093/hmg/ddu691
Publication type:: Article

Expression inactivation of SMARCA4 by microRNAs in lung tumors.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1400, doi. 10.1093/hmg/ddu554

By:

Coira, Isabel F.;
Rufino-Palomares, Eva E.;
Romero, Octavio A.;
Peinado, Paola;
Metheetrairut, Chanatip;
Boyero-Corral, Laura;
Carretero, Julian;
Farez-Vidal, Esther;
Cuadros, Marta;
Reyes-Zurita, Fernando J.;
Lupiáñez, Jose A.;
Sánchez-Cespedes, Montse;
Slack, Frank J.;
Medina, Pedro P.

Publication type:

Article

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1420, doi. 10.1093/hmg/ddu556

By:

Johnson-Kerner, Bethany L.;
Ahmad, Faizzan S.;
Diaz, Alejandro Garcia;
Greene, John Palmer;
Gray, Steven J.;
Samulski, Richard Jude;
Chung, Wendy K.;
Van Coster, Rudy;
Maertens, Paul;
Noggle, Scott A.;
Henderson, Christopher E.;
Wichterle, Hynek

Publication type:

Article

LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1336, doi. 10.1093/hmg/ddu543

By:

Beccano-Kelly, Dayne A.;
Volta, Mattia;
Munsie, Lise N.;
Paschall, Sarah A.;
Tatarnikov, Igor;
Co, Kimberley;
Chou, Patrick;
Cao, Li-Ping;
Bergeron, Sabrina;
Mitchell, Emma;
Han, Heather;
Melrose, Heather L.;
Tapia, Lucia;
Raymond, Lynn A.;
Farrer, Matthew J.;
Milnerwood, Austen J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 5, p. NP, doi. 10.1093/hmg/ddu639
Publication type:: Article

Expression of progerin in aging mouse brains reveals structural nuclear abnormalities without detectible significant alterations in gene expression, hippocampal stem cells or behavior.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1305, doi. 10.1093/hmg/ddu541

By:

Baek, Jean-Ha;
Schmidt, Eva;
Viceconte, Nikenza;
Strandgren, Charlotte;
Pernold, Karin;
Richard, Thibaud J. C.;
Van Leeuwen, Fred W.;
Dantuma, Nico P.;
Damberg, Peter;
Hultenby, Kjell;
Ulfhake, Brun;
Mugnaini, Enrico;
Rozell, Björn;
Eriksson, Maria

Publication type:

Article

Becker muscular dystrophy severity is linked to the structure of dystrophin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1267, doi. 10.1093/hmg/ddu537

By:

Nicolas, Aurélie;
Raguénès-Nicol, Céline;
Ben Yaou, Rabah;
Ameziane-Le Hir, Sarah;
Chéron, Angélique;
Vié, Véronique;
Claustres, Mireille;
Leturcq, France;
Delalande, Olivier;
Hubert, Jean-François;
Tuffery-Giraud, Sylvie;
Giudice, Emmanuel;
Le Rumeur, Elisabeth

Publication type:

Article

Direct interplay between two candidate genes in FSHD muscular dystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1256, doi. 10.1093/hmg/ddu536

By:

Ferri, Giulia;
Huichalaf, Claudia H.;
Caccia, Roberta;
Gabellini, Davide

Publication type:

Article

Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1225, doi. 10.1093/hmg/ddu533

By:

Peng, Zhen;
Zhou, Weichen;
Fu, Wenqing;
Du, Renqian;
Jin, Li;
Zhang, Feng

Publication type:

Article

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1363, doi. 10.1093/hmg/ddu545

By:

Kaneb, Hannah M.;
Folkmann, Andrew W.;
Belzil, Véronique V.;
Jao, Li-En;
Leblond, Claire S.;
Girard, Simon L.;
Daoud, Hussein;
Noreau, Anne;
Rochefort, Daniel;
Hince, Pascale;
Szuto, Anna;
Levert, Annie;
Vidal, Sabrina;
André-Guimont, Catherine;
Camu, William;
Bouchard, Jean-Pierre;
Dupré, Nicolas;
Rouleau, Guy A.;
Wente, Susan R.;
Dion, Patrick A.

Publication type:

Article

Genome-wide association study of selenium concentrations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1469, doi. 10.1093/hmg/ddu546

By:

Cornelis, Marilyn C.;
Fornage, Myriam;
Foy, Millennia;
Xun, Pengcheng;
Gladyshev, Vadim N.;
Morris, Steve;
Chasman, Daniel I.;
Hu, Frank B.;
Rimm, Eric B.;
Kraft, Peter;
Jordan, Joanne M.;
Mozaffarian, Dariush;
He, Ka

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 5, p. NP, doi. 10.1093/hmg/ddu661
Publication type:: Article

Glutaredoxin deficiency exacerbates neurodegeneration in C. elegans models of Parkinson's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1322, doi. 10.1093/hmg/ddu542

By:

Johnson, William M.;
Yao, Chen;
Siedlak, Sandra L.;
Wang, Wenzhang;
Zhu, Xiongwei;
Caldwell, Guy A.;
Wilson-Delfosse, Amy L.;
Mieyal, John J.;
Chen, Shu G.

Publication type:

Article

Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1441, doi. 10.1093/hmg/ddu561

By:

Bai, Guang;
Cheung, Iris;
Shulha, Hennady P.;
Coelho, Joana E.;
Li, Ping;
Dong, Xianjun;
Jakovcevski, Mira;
Wang, Yumei;
Grigorenko, Anastasia;
Jiang, Yan;
Hoss, Andrew;
Patel, Krupal;
Zheng, Ming;
Rogaev, Evgeny;
Myers, Richard H.;
Weng, Zhiping;
Akbarian, Schahram;
Chen, Jiang-Fan

Publication type:

Article

Identification of seven genes essential for male fertility through a genome-wide association study of non-obstructive azoospermia and RNA interference-mediated large-scale functional screening in Drosophila.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1493

By:

Yu, Jun;
Wu, Hao;
Wen, Yang;
Liu, Yujuan;
Zhou, Tao;
Ni, Bixian;
Lin, Yuan;
Dong, Jing;
Zhou, Zuomin;
Hu, Zhibin;
Guo, Xuejiang;
Sha, Jiahao;
Tong, Chao

Publication type:

Article

Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1432

By:

Gómez-Úriz, Ana M.;
Milagro, Fermín I.;
Mansego, María L.;
Cordero, Paúl;
Abete, Itziar;
De Arce, Ana;
Goyenechea, Estíbaliz;
Blázquez, Vanessa;
Martínez-Zabaleta, Maite;
Martínez, José Alfredo;
López De Munain, Adolfo;
Campión, Javier

Publication type:

Article

Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1243, doi. 10.1093/hmg/ddu535

By:

Al-Rewashdy, Hasanen;
Ljubicic, Vladimir;
Lin, Wei;
Renaud, Jean-Marc;
Jasmin, Bernard J.

Publication type:

Article

Epigenetic germline mosaicism in infertile men.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1295, doi. 10.1093/hmg/ddu540

By:

Laurentino, Sandra;
Beygo, Jasmin;
Nordhoff, Verena;
Kliesch, Sabine;
Wistuba, Joachim;
Borgmann, Jennifer;
Buiting, Karin;
Horsthemke, Bernhard;
Gromoll, Jörg

Publication type:

Article

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1280, doi. 10.1093/hmg/ddu538

By:

Zancan, Ilaria;
Bellesso, Stefania;
Costa, Roberto;
Salvalaio, Marika;
Stroppiano, Marina;
Hammond, Chrissy;
Argenton, Francesco;
Filocamo, Mirella;
Moro, Enrico

Publication type:

Article