Results 101 to 110 of about 1,761,052 (374)

C‐mannosylation promotes ADAMTS1 activation and secretion in human testicular germ cell tumor NEC8 cells

FEBS Letters, EarlyView.
C‐mannosylation is a unique form of protein glycosylation. In this study, we demonstrated that ADAMTS1 is C‐mannosylated at Trp562 and Trp565 in human testicular germ cell tumor NEC8 cells. We found that C‐mannosylation of ADAMTS1 is essential for its secretion, processing, enzymatic activity, and ability to promote vasculogenic mimicry. These findings
Takato Kobayashi, Takehiro Suzuki, Ryota Kawahara, Natsumi Harai, Naoshi Dohmae, Siro Simizu   +5 more
wiley   +1 more source

Genetic copy number variation and general cognitive ability.

PLoS ONE, 2012
Differences in genomic structure between individuals are ubiquitous features of human genetic variation. Specific copy number variants (CNVs) have been associated with susceptibility to numerous complex psychiatric disorders, including attention-deficit ...
Andrew K MacLeod, Gail Davies, Antony Payton, Albert Tenesa, Sarah E Harris, David Liewald, Xiayi Ke, Michelle Luciano, Lorna M Lopez, Alan J Gow, Janie Corley, Paul Redmond, Geraldine McNeill, Andrew Pickles, William Ollier, Michael Horan, John M Starr, Neil Pendleton, Pippa A Thomson, David J Porteous, Ian J Deary   +20 more
doaj   +1 more source

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype [PDF]

, 2012
Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or deletions (
Ali, M, Anwar, R, Bonthron, DT, Carr, IM, Diggle, CP, Dobbie, A, Inglehearn, C, Khan, K, Markham, AF, McKibbin, M, Pena, SDJ   +10 more
core   +3 more sources

Diagnostic implications of genetic copy number variation in epilepsy plus

Epilepsia, 2019
Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies
A. Coppola, E. Cellini, Hannah Stamberger, Elmo Saarentaus, V. Cetica, Dennis Lal, T. Djémié, Magdalena Bartnik-Głaska, B. Ceulemans, J. Helen Cross, T. Deconinck, S. Masi, T. Dorn, R. Guerrini, D. Hoffman-Zacharska, F. Kooy, L. Lagae, N. Lench, J. Lemke, E. Lucenteforte, F. Madia, H. Mefford, D. Morrogh, P. Nuernberg, A. Palotie, A. Schoonjans, P. Striano, E. Szczepanik, A. Tostevin, J. Vermeesch, H. Van Esch, W. van Paesschen, J. Waters, S. Weckhuysen, F. Zara, P. Jonghe, S. Sisodiya, C. Marini, Anna‐Elina Dana Tiina Hande Jose Katalin Rikke S. Helle Holge Lehesjioki Craiu Talvik Caglayan Serratosa Sterbov, Anna‐Elina Lehesjioki, D. Craiu, T. Talvik, H. Caglayan, J. Serratosa, K. Štěrbová, R. Møller, H. Hjalgrim, H. Lerche, Y. Weber, I. Helbig, S. von Spiczak, Carmen Barba, A. Bogaerts, A. Boni, E. Galizia, S. Chiari, Gianpiero Di Gacomo, Annarita Ferrari, S. Guarducci, S. Giglio, Philip Holmgren, C. Leu, F. Melani, F. Novara, M. Pantaleo, Elke Peeters, T. Pisano, A. Rosati, J. Sander, N. Schoeler, P. Stankiewicz, S. Striano, A. Suls, M. Traverso, G. Vandeweyer, Anke Van Dijck, O. Zuffardi   +76 more
semanticscholar   +1 more source

The multidrug and toxin extrusion (MATE) transporter DTX51 antagonizes non‐cell‐autonomous HLS1–AMP1 signaling in a region‐specific manner

FEBS Letters, EarlyView.
The Arabidopsis mutants hls1 hlh1 and amp1 lamp1 exhibit pleiotropic developmental phenotypes. Although the functions of the causative genes remain unclear, they act in the same genetic pathway and are thought to generate non‐cell‐autonomous signals.
Takashi Nobusawa, Makoto Kusaba
wiley   +1 more source

Germline copy number variation and ovarian cancer survival

Frontiers in Genetics, 2012
Copy number variants (CNVs) have been implicated in many complex diseases. We examined whether inherited CNVs were associated with overall survival among women with invasive epithelial ovarian cancer.
Brooke L Fridley, Prabhakar eChalise, Ya-Yu eTsai, Zhifu eSun, Robert A. Vierkant, Melissa C. Larson, Julie M. Cunningham, Edwin S. Iversen, David eFenstermacher, Jill eBarnholtz-Sloan, Yan eAsmann, Harvey A. Risch, Joellen eSchildkraut, Catherine M. Phelan, Rebecca eSutphen, Thomas A. Sellers, Ellen L. Goode   +16 more
doaj   +1 more source

DNA Copy Number Variation in Autism [PDF]

, 2009
Autism is a childhood neurodevelopmental and psychiatric disorder that involves the impairment of social skills and communication. The genetics behind the inheritance and susceptibility of this disorder are not well known but have recently been studied ...
Adur, Ashwin
core  

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

bioRxiv, 2019
Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing.
Erin Zampaglione, Benyam Kinde, E. Place, D. Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J. A. Mazzone, C. Finn, Dana Schlegel, J. Comander, Eric A. Pierce, K. Bujakowska   +12 more
semanticscholar   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Aluminum tolerance in maize is associated with higher MATE1 gene copy number [PDF]

, 2013
Genome structure variation, including copy number variation and presence/absence variation, comprises a large extent of maize genetic diversity; however, its effect on phenotypes remains largely unexplored.
Albert, P. S., Birchler, J. A., Bradbury, P. J., Buckler, E. S., Coluccio, A. E., Danilova, T. V., Guimaraes, C. T., Kirst, M., Kochian, L. V., Kudrna, D., Magalhaes, J. V., Maron, L. G., Pineros, M. A., Schatz, M. C., Wing, R. A.   +14 more
core   +1 more source