Results 161 to 170 of about 13,340,828 (402)
Neutrophil deficiency increases T cell numbers at the site of tissue injury in mice
FEBS Letters, EarlyView.In wild‐type mice, injury or acute inflammation induces neutrophil influx followed by macrophage accumulation. Mcl1ΔMyelo (neutrophil‐deficient) mice lack neutrophils, and in response to muscle injury show fewer macrophages and exhibit strikingly elevated T‐cell numbers, primarily non‐conventional “double‐negative” (DN) αβ and γδ T cells.Hajnalka Halász, Albert Bálint Papp, Lukács Sándor Lesinszki, Attila Mócsai, Tamás Varga, László Nagy, Péter Gogolák +6 morewiley +1 more sourcePhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
Human Mutation, 2015 The discovery of disease‐causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families.Orion J. Buske, M. Gîrdea, Sergiu Dumitriu, Bailey Gallinger, T. Hartley, Heather P Trang, A. Misyura, Tal Friedman, C. Beaulieu, W. Bone, Amanda E Links, N. Washington, M. Haendel, Peter N. Robinson, C. Boerkoel, D. Adams, W. Gahl, K. Boycott, M. Brudno +18 moresemanticscholar +1 more sourceGenetic diseases and molecular genetics [PDF]
Nephrology Dialysis Transplantation, 2013 C. Legendre, D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber, L. Greenbaum, T. Goodship, H. Haller, M. Herthelius, M. Hourmant, C. Licht, B. Moulin, N. Sheerin, A. Trivelli, C. L. Bedrosian, C. Loirat, C. Legendre, S. Babu, D. Cohen, Y. Delmas, R. Furman, O. Gaber, L. Greenbaum, M. Hourmant, T. Jungraithmayr, Y. Lebranchu, M. Riedl, N. Sheerin, C. L. Bedrosian, C. Loirat, N. Sheerin, C. Legendre, L. Greenbaum, R. Furman, D. Cohen, A. O. Gaber, C. Bedrosian, C. Loirat, H. Haller, C. Licht, P. Muus, C. Legendre, K. Douglas, M. Hourmant, M. Herthelius, A. Trivelli, T. Goodship, G. Remuzzi, C. Bedrosian, C. Loirat, A. Kourouklaris, K. Ioannou, I. Athanasiou, K. Demetriou, A. Panagidou, M. Zavros, N. Y. Rodriguez C, M. Blasco, C. Arcal, L. F. Quintana, S. Rodriguez de Cordoba, J. M. Campistol, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, F. Pesce, S. N. Cox, G. Serino, G. De Palma, F. P. Sallustio, F. Schena, M. Falchi, M. Pieri, C. Stefanou, A. Zaravinos, K. Erguler, G. Lapathitis, H. Dweep, C. Sticht, N. Anastasiadou, I. Zouvani, K. Voskarides, N. Gretz, C. C. Deltas, A. Ruiz, O. Bonny, F. Sallustio, G. Serino, C. Curci, S. Cox, G. De Palma, F. Schena, E. Kemter, S. Sklenak, B. Aigner, R. Wanke, T. M. Kitzler, J. L. Moskowitz, S. E. Piret, K. Lhotta, A. Tashman, E. Velez, R. V. Thakker, P. Kotanko, J. Leierer, M. Rudnicki, P. Perco, C. Koppelstaetter, G. Mayer, M. J. N. Sa, S. Alves, H. Storey, F. Flinter, P. J. Willems, F. Carvalho, J. Oliveira, M. Arsali, L. Papazachariou, P. Demosthenous, A. Lazarou, M. Hadjigavriel, C. Stavrou, L. Yioukkas, K. Voskarides, C. Deltas, M. Zavros, A. Pierides, M. Arsali, P. Demosthenous, L. Papazachariou, K. Voskarides, M. Kkolou, M. Hadjigavriel, M. Zavros, C. Deltas, A. Pierides, H. R. Toka, S. Dibartolo, B. Lanske, E. M. Brown, M. R. Pollak, A. Familiari, B. Zavan, S. Sanna Cherchi, A. Fabris, R. Cristofaro, G. Gambaro, A. D'Angelo, F. Anglani, H. Toka, D. Mount, M. Pollak, G. Curhan, G. Sengoge, T. Bajari, A. Kupczok, A. von Haeseler, M. Schuster, W. Pfaller, P. Jennings, A. Weltermann, S. Blake, G. Sunder-Plassmann, A. Kerti, R. Csohany, L. Wagner, E. Javorszky, E. Maka, T. Tulassay, K. Tory, J. Kingswood, N. Nikolskaya, J. Mbundi, J. Kingswood, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, T. Brechenmacher, K. Stein, J. Bissler, D. Franz, J. Kingswood, B. Zonnenberg, M. Frost, W. Cheung, J. Wang, T. Brechenmacher, D. Lam, J. Bissler +199 moreopenaire +4 more sourcesGenetics of Cerebrovascular Disease [PDF]
Stroke, 2004 Stroke is a complex disease, with both genetic and environmental factors having a role in its pathogenesis. A review of past studies shows some evidence of genetic influences in the development of stroke. This is supported by studies of cardiovascular disease, which indicate major genetic influences at several levels including the development of risk ...openaire +4 more sourcesC‐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 morewiley +1 more sourceWhole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Genetics in Medicine, 2015 Purpose:Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. Xiaoling Zhu, S. Petrovski, S. Petrovski, Pingxing Xie, Pingxing Xie, E. Ruzzo, Yi-Fan Lu, K. M. McSweeney, B. Ben-Zeev, B. Ben-Zeev, A. Nissenkorn, A. Nissenkorn, Y. Anikster, Y. Anikster, D. Oz-Levi, R. Dhindsa, Y. Hitomi, Y. Hitomi, K. Schoch, Rebecca C. Spillmann, G. Heimer, D. Marek‐Yagel, M. Tzadok, M. Tzadok, Yujun Han, G. Worley, J. Goldstein, Yong-hui Jiang, D. Lancet, E. Pras, V. Shashi, D. Mchale, A. Need, A. Need, D. Goldstein +34 moresemanticscholar +1 more source
