Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 5

Results: 29

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
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
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
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
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
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
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
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
‘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
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
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
Contents Page.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 5, p. NP, doi. 10.1093/hmg/ddu639
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