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163 results on '"Sogawa, Y."'

1. Correction to: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (Genetics in Medicine, (2018), 10.1038/s41436-018-0339-3)

Author

Piard, J., Hawkes, L., Milh, M., Villard, L., Borgatti, Renato, Romaniello, R., Fradin, M., Capri, Y., Héron, D., Nougues, M. -C., Nava, Consuelo Rubina, Arsene, O. T., Shears, D., Taylor, J., Pagnamenta, A., Taylor, J. C., Sogawa, Y., Johnson, D., Firth, H., Vasudevan, P., Jones, G., Nguyen-Morel, M. -A., Busa, T., Roubertie, A., van den Born, M., Brischoux-Boucher, E., Koenig, M., Mignot, C., Kini, U., and Philippe, C.

Subjects
WWOX-related disorders, Settore M-PSI/08 - PSICOLOGIA CLINICA
Published
2019

2. The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature

Author

Piard, J., Hawkes, L., Milh, M., Villard, Laurent, Borgatti, R., Fradin, M., Capri, Y., Heron, D., Nougues, M., Nava, C., Arsene, O. Tarta, Shears, D., Sogawa, Y., Johnson, D., Firth, H., Vasudevan, P., Jones, G., Nguyen-Morel, M., Busa, T., Roubertie, A., Born, M., Koenig, M., Brischoux-Boucher, E., Mignot, C., Kini, U., Philippe, C., Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics
Abstract

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018; International audience

Published
2019

3. Energetic Trade-Offs and Hypometabolic States Promote Disease Tolerance.

Author

Maschek J.A., Van Ry T., Chagwedera D.N., Cox J.E., Nikkanen J., Chawla A., Leong Y.A., Man K., Ganeshan K., Sogawa Y., Maschek J.A., Van Ry T., Chagwedera D.N., Cox J.E., Nikkanen J., Chawla A., Leong Y.A., Man K., Ganeshan K., and Sogawa Y.

Abstract

Host defenses against pathogens are energetically expensive, leading ecological immunologists to postulate that they might participate in energetic trade-offs with other maintenance programs. However, the metabolic costs of immunity and the nature of physiologic trade-offs it engages are largely unknown. We report here that activation of immunity causes an energetic trade-off with the homeothermy (the stable maintenance of core temperature), resulting in hypometabolism and hypothermia. This immunity-induced physiologic trade-off was independent of sickness behaviors but required hematopoietic sensing of lipopolysaccharide (LPS) via the toll-like receptor 4 (TLR4). Metabolomics and genome-wide expression profiling revealed that distinct metabolic programs supported entry and recovery from the energy-conserving hypometabolic state. During bacterial infections, hypometabolic states, which could be elicited by competition for energy between maintenance programs or energy restriction, promoted disease tolerance. Together, our findings suggest that energy-conserving hypometabolic states, such as dormancy, might have evolved as a mechanism of tissue tolerance. Immune activation after infection is metabolically costly, competing for energy with the maintenance of normal body temperature, and this dynamic trade-off leads to preferential use of tolerance as a mechanism of bacterial defense.Copyright © 2019 Elsevier Inc.

Published
2019

4. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Author

Piard, J, Hawkes, L, Milh, M, Villard, L, Borgatti, R, Romaniello, R, Fradin, M, Capri, Y, Heron, D, Nougues, MC, Nava, C, Arsene, OT, Shears, D, Taylor, J, Pagnamenta, A, Taylor, JC, Sogawa, Y, Johnson, D, Firth, H, Vasudevan, P, Jones, G, Nguyen-Morel, MA, Busa, T, Roubertie, A, van den Born, Myrthe, Brischoux-Boucher, E, Koenig, M, Mignot, C, Kini, U, Philippe, C, Piard, J, Hawkes, L, Milh, M, Villard, L, Borgatti, R, Romaniello, R, Fradin, M, Capri, Y, Heron, D, Nougues, MC, Nava, C, Arsene, OT, Shears, D, Taylor, J, Pagnamenta, A, Taylor, JC, Sogawa, Y, Johnson, D, Firth, H, Vasudevan, P, Jones, G, Nguyen-Morel, MA, Busa, T, Roubertie, A, van den Born, Myrthe, Brischoux-Boucher, E, Koenig, M, Mignot, C, Kini, U, and Philippe, C

Published
2019

7. The phenotypic spectrum of WWOX -related disorders: 20 additional cases of WOREE syndrome and review of the literature

Author

Piard, J. (Juliette), Hawkes, L. (Lara), Milh, M. (Mathieu), Villard, L. (Laurent), Borgatti, R. (Renato), Romaniello, R. (Romina), Fradin, M. (Melanie), Capri, Y. (Yline), Héron, D. (Delphine), Nougues, M.-C. (Marie-Christine), Nava, C. (Caroline), Arsene, O.T. (Oana Tarta), Shears, D.J. (Deborah), Sogawa, Y. (Yoshimi), Johnson, D. (David), Firth, H.V., Vasudevan, P. (Pradeep), Jones, G. (Gabriela), Nguyen-Morel, M.-A. (Marie-Ange), Busa, T. (Tiffany), Roubertie, A. (Agathe), Born, M. (Myrthe) van den, Brischoux-Boucher, E. (Elise), Koenig, M. (Michel), Mignot, C. (Cyril), Kini, U. (Usha), Philippe, C. (Christophe), Piard, J. (Juliette), Hawkes, L. (Lara), Milh, M. (Mathieu), Villard, L. (Laurent), Borgatti, R. (Renato), Romaniello, R. (Romina), Fradin, M. (Melanie), Capri, Y. (Yline), Héron, D. (Delphine), Nougues, M.-C. (Marie-Christine), Nava, C. (Caroline), Arsene, O.T. (Oana Tarta), Shears, D.J. (Deborah), Sogawa, Y. (Yoshimi), Johnson, D. (David), Firth, H.V., Vasudevan, P. (Pradeep), Jones, G. (Gabriela), Nguyen-Morel, M.-A. (Marie-Ange), Busa, T. (Tiffany), Roubertie, A. (Agathe), Born, M. (Myrthe) van den, Brischoux-Boucher, E. (Elise), Koenig, M. (Michel), Mignot, C. (Cyril), Kini, U. (Usha), and Philippe, C. (Christophe)

Abstract

Purpose: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations. Methods: We report clinical and molecular findings in 20 additional patients from 18 unrelated families with WOREE syndrome and biallelic pathogenic variants in the WWOX gene. Different molecular screening approaches were used (quantitative polymerase chain reaction/multiplex ligation-dependent probe amplification [qPCR/MLPA], array comparative genomic hybridization [array-CGH], Sanger sequencing, epilepsy gene panel, exome sequencing). Results: Two copy-number variations (CNVs) or two single-nucleotide variations (SNVs) were found respectively in four and nine families, with compound heterozygosity for one SNV and one CNV in five families. Eight novel missense pathogenic variants have been described. By aggregating our patients with all cases reported in the literature, 37 patients from 27 families with WOREE syndrome are known. This review suggests WOREE syndrome is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant seizures, ophthalmological involvement, and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. Conclusion: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome.

Published
2018
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9. DirectLiNGAM: A direct method for learning a linear non-Gaussian structural equation model

Author

Shimizu, S., Inazumi, T., Sogawa, Y., Hyvärinen, A., Yoshinobu KAWAHARA, Washio, T., Hoyer, P. O., and Bollen, K.

Subjects
FOS: Computer and information sciences, Statistics - Machine Learning, Machine Learning (stat.ML)
Abstract

Structural equation models and Bayesian networks have been widely used to analyze causal relations between continuous variables. In such frameworks, linear acyclic models are typically used to model the data-generating process of variables. Recently, it was shown that use of non-Gaussianity identifies the full structure of a linear acyclic model, i.e., a causal ordering of variables and their connection strengths, without using any prior knowledge on the network structure, which is not the case with conventional methods. However, existing estimation methods are based on iterative search algorithms and may not converge to a correct solution in a finite number of steps. In this paper, we propose a new direct method to estimate a causal ordering and connection strengths based on non-Gaussianity. In contrast to the previous methods, our algorithm requires no algorithmic parameters and is guaranteed to converge to the right solution within a small fixed number of steps if the data strictly follows the model., Comment: A revised version of this was accepted in Journal of Machine Learning Research

Published
2011
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16. A pediatric occurrence of crescentic glomerulonephritis associated with antineutrophil cytoplasmic antibodies and mesangial IgA deposits

Author

Jimbo, R., primary, Ubara, Y., additional, Tagami, T., additional, Higa, Y., additional, Suwabe, T., additional, Nakanishi, S., additional, Sogawa, Y., additional, Nomura, K., additional, Kadoguchi, H., additional, Hoshino, J., additional, Sawa, N., additional, Katori, H., additional, Takemoto, F., additional, Hara, S., additional, Ohashi, K., additional, and Takaichi, K., additional

Published
2007
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39. Improvement of engine transient characteristics using an induction chamber model

Author

Sogawa, Y., Kameoka, T., and Matsui, F.

Abstract

Engine transient air–fuel ratio control performance exerts a significant effect on the exhaust gas emissions and the vehicle running performance. Accurate determination of the engine intake air mass is necessary to allow accurate control of the air–fuel ratio in an electronic control fuel–injection system. In this article it is attempted to estimate the cylinder intake air mass by means of an induction chamber model in an L–Jetro multipoint injection system and to carry out fuel injection based on the estimated results, noting the difference between the mass of air that passes through the air flow meter and the actual mass of cylinder intake air, due to the capacity of the induction system. The algorithm for this purpose and its effect are introduced.

Published
1989
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