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1. Kinetic and hydrodynamic regimes in multi-particle-collision dynamics of a one-dimensional fluid with thermal walls

Author

Lepri, Stefano, Ciraolo, Guido, Di Cintio, Pierfrancesco, Gunn, Jamie, and Livi, Roberto

Subjects
Condensed Matter - Statistical Mechanics
Abstract

We study the non-equilibrium steady-states of a one-dimensional ($1D1V$) fluid in a finite space region of length $L$. Particles interact among themselves by multi-particle collisions and are in contact with two thermal-wall heat reservoirs, located at the boundaries of the region. After an initial ballistic regime, we find a crossover from a normal (kinetic) transport regime to an anomalous (hydrodynamic) one, above a characteristic size $L_*$. We argue that $L_*$ is proportional to the cube of the collision time among particles. Motivated by the physics of emissive divertors in fusion plasma, we consider the more general case of thermal walls injecting particles with given average (non-thermal) velocity. For fast and relatively cold particles, short systems fail to establish local equilibrium and display non-Maxwellian distributions of velocities., Comment: Accepted for publication in Physical Review Research

Published
2021
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2. ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Author

Smeland, Marie F., McClenaghan, Conor, Roessler, Helen I., Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H., Huang, Yan, Singareddy, Soma S., Gunn, Jamie, Wozniak, David F., Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M., Bakkers, Jeroen, Remedi, Maria S., Van Ghelue, Marijke, Nichols, Colin G., and van Haaften, Gijs

Published
2019
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5. ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Author

Smeland, Marie F, McClenaghan, Conor, Roessler, Helen I, Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H, Huang, Yan, Singareddy, Soma S, Gunn, Jamie, Wozniak, David F, Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M, Bakkers, Jeroen, Remedi, Maria S, Van Ghelue, Marijke, Nichols, Colin G, van Haaften, Gijs, Smeland, Marie F, McClenaghan, Conor, Roessler, Helen I, Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H, Huang, Yan, Singareddy, Soma S, Gunn, Jamie, Wozniak, David F, Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M, Bakkers, Jeroen, Remedi, Maria S, Van Ghelue, Marijke, Nichols, Colin G, and van Haaften, Gijs

Abstract

Mutations in genes encoding KATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of KATP channels. This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function.

Published
2019

6. ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Author

Genetica Groep Van Haaften, Genetica Sectie Genoomdiagnostiek, Child Health, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Smeland, Marie F, McClenaghan, Conor, Roessler, Helen I, Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H, Huang, Yan, Singareddy, Soma S, Gunn, Jamie, Wozniak, David F, Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M, Bakkers, Jeroen, Remedi, Maria S, Van Ghelue, Marijke, Nichols, Colin G, van Haaften, Gijs, Genetica Groep Van Haaften, Genetica Sectie Genoomdiagnostiek, Child Health, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Cancer, Smeland, Marie F, McClenaghan, Conor, Roessler, Helen I, Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H, Huang, Yan, Singareddy, Soma S, Gunn, Jamie, Wozniak, David F, Kovacs, Attila, Massink, Maarten, Tessadori, Federico, Kamel, Sarah M, Bakkers, Jeroen, Remedi, Maria S, Van Ghelue, Marijke, Nichols, Colin G, and van Haaften, Gijs

Published
2019

7. ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Author

Smeland, Marie F., McClenaghan, Conor, Roessler, Helen I., Savelberg, Sanne, Hansen, Geir Åsmund Myge, Hjellnes, Helene, Arntzen, Kjell Arne, Müller, Kai Ivar, Dybesland, Andreas Rosenberger, Harter, Theresa, Sala-Rabanal, Monica, Emfinger, Chris H., Huang, Yan, Singareddy, Soma S., Gunn, Jamie, Wozniak, David F., Kovacs, Attila, Massink, Maarten, Tessadori, Federico, and Kamel, Sarah M.

Subjects
INTELLECTUAL disabilities, DISABILITIES, MUSCLE diseases, RECESSIVE genes, SYNDROMES, GAIN-of-function mutations, ZEBRA danio
Abstract

Mutations in genes encoding KATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of KATP channels. This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function. ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and cardiac systolic dysfunction which is associated with loss of KATP channel function. [ABSTRACT FROM AUTHOR]

Published
2019
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