Results 41 to 50 of about 314,830 (333)

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders [PDF]

, 2016
Personality is influenced by genetic and environmental factors1 and associated with mental health. However, the underlying genetic determinants are largely unknown.
A Okbay, A Ramasamy, AE Poropat, Anders M Dale, Andrew Schork, B Bulik-Sullivan, B Devlin, B Franke, B Howie, BK Bulik-Sullivan, BM Henn, C Giambartolomei, CA Rietveld, Carol Franz, CG DeYoung, Chi-Hua Chen, Chun-Chieh Fan, CJ Soto, CJ Willer, D Falush, D Trabzuni, Daniel J Smith, David A Hinds, DF Gudbjartsson, DJ Smith, Dominic Holland, DP Hibar, DR Nyholt, E Green, G Bjornsdottir, Gyda Bjornsdottir, HC So, HN Kim, Hreinn Stefansson, J Van Os, J Yang, JA Gray, JH Barnett, JK Pickrell, JM Hettema, Joyce Y Tung, JR Gulcher, K Åberg, Kari Stefansson, Karolina Kauppi, KS Kendler, L Mezquita, Linda K McEvoy, LR Goldberg, MA Distel, MH de Moor, MH de Moor, Michael O'Donovan, Min-Tzu Lo, Nilotpal Sanyal, Olav B Smeland, Ole A Andreassen, P Bůžková, R Plomin, R Tabarés-Seisdedos, RA Power, RA Power, RJ Pruim, S Jakobwitz, S Purcell, S Ripke, SBG Eysenck, SL Karalunas, SM van den Berg, SM van den Berg, SR Browning, T Insel, T Vukasović, TA Greenwood, Thorgeir E Thorgeirsson, TJ Trull, V Boraska, Valentina Escott-Price, WK Thompson, Y Hu, Y Ono, Y Wang, Yunpeng Wang   +82 more
core   +3 more sources

An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

Frontiers in Genetics, 2019
Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily, Felipe Avila, Pranab J. Das, Michelle A. Kutzler, Terje Raudsepp   +4 more
doaj   +1 more source

Cellular and clinical impact of Haploinsufficiency for genes involved in ATR signaling [PDF]

, 2007
Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe microcephaly and growth delay.
Abraham, Alderton, Alderton, Amenta, Bakhshi, Cardoso, Cardoso, Carr, Chen, Cortez, Cox, Crisponi, De Baere, de Ru, Dierov, Ellison, Fang, Fernandez-Capetillo, Girard, Johanna M. van Hagen, Johnson, Kim, Leventer, Lewis, Liu, Liu, Lupski, Mark O’Driscoll, Noskov, O’Driscoll, O’Driscoll, O’Driscoll, Page, Penny A. Jeggo, Petermann, Redon, Rogers, Seckel, Semmekrot, Shaw-Smith, Sheen, Shiloh, Shizuyo, Stiff, Tassabehji, Tassabehji, Thornburg, Toyo-oka, Wang, William B. Dobyns, Wu, Yao, Yingling, Zachos, Zou, Zou, Zou   +56 more
core   +3 more sources

Genetic issues in the diagnosis of dystonias [PDF]

, 2013
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core   +1 more source

Identification of novel small molecule inhibitors of ETS transcription factors

FEBS Letters, EarlyView.
ETS transcription factors play an essential role in tumourigenesis and are indispensable for sprouting angiogenesis, a hallmark of cancer, which fuels tumour expansion and dissemination. Thus, targeting ETS transcription factor function could represent an effective, multifaceted strategy to block tumour growth. The evolutionarily conserved E‐Twenty‐Six
Shaima Abdalla, Zary Forghany, Jin Ma, Johan G. Hollander, Ruta Nachane, Karoly Szuhai, Pancras C. W. Hogendoorn, Peter ten Dijke, Dipen Shah, David A. Baker   +9 more
wiley   +1 more source

Assignment of the Human and Mouse Prion Protein Genes to Homologous Chromosomes [PDF]

, 1986
Purified preparations of scrapie prions contain one major macromolecule, designated prion protein (PrP). Genes encoding PrP are found in normal animals and humans but not within the infectious particles.
Blatt, Cila, Cohn, Vivian H., DeArmond, Stephen J., Fournier, R. E. K., Heinzmann, Camilla, Klisak, Ivana, Lem, Janice, Lucero, Michael, Mohandas, T., Pruisner, Stanley B., Simon, Melvin, Sparkes, Robert S., Weiner, Leslie P., Westaway, David   +13 more
core  

A cellular system to study responses to a collision between the transcription complex and a protein‐bound nick in the DNA template

FEBS Letters, EarlyView.
We present the cellular transcription‐coupled Flp‐nick system allowing the introduction of a Top1‐mimicking cleavage complex (Flpcc) at a Flp recognition target site within a controllable LacZ gene. LacZ transcription leads to the collision of RNA polymerase II (RNAPII) with Flpcc, and this causes RNAPII stalling, ubiquitination, and degradation.
Petra Herring, Morten Roedgaard, Camilla Myrup Holst, Helene Christensen, Birgitta R. Knudsen, Lotte Bjergbaek, Anni Hangaard Andersen   +6 more
wiley   +1 more source

Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]

, 2011
Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G.
core   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source