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21 results on '"Roessler, Helen I"'

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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3. ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle

Author

Metabole ziekten onderzoek 1, Cancer, Singareddy, Soma S., Roessler, Helen, I, McClenaghan, Conor, Ikle, Jennifer M., Tryon, Robert C., Haaften, Gijs, Nichols, Colin G., Metabole ziekten onderzoek 1, Cancer, Singareddy, Soma S., Roessler, Helen, I, McClenaghan, Conor, Ikle, Jennifer M., Tryon, Robert C., Haaften, Gijs, and Nichols, Colin G.

Published
2022

6. Behavioral and cognitive functioning in individuals with Cantú syndrome

Author

Metabole ziekten onderzoek 1, Cancer, Genetica, Genetica Sectie Research, Child Health, Genetica Klinische Genetica, Roessler, Helen I., van Der Heuvel, Lieke M., Shields, Kathleen, Guilliams, Kristin P., Knoers, Nine V. A. M., van Haaften, Gijs, Grange, Dorothy K., van Haelst, Mieke M., Metabole ziekten onderzoek 1, Cancer, Genetica, Genetica Sectie Research, Child Health, Genetica Klinische Genetica, Roessler, Helen I., van Der Heuvel, Lieke M., Shields, Kathleen, Guilliams, Kristin P., Knoers, Nine V. A. M., van Haaften, Gijs, Grange, Dorothy K., and van Haelst, Mieke M.

Published
2021

7. Drug Repurposing for Rare Diseases

Author

Genetica, Metabole ziekten onderzoek 1, Cancer, Genetica Groep Van Haaften, Genetica Klinische Genetica, Genetica Sectie Research, Child Health, Roessler, Helen I., Knoers, Nine V.A.M., van Haelst, Mieke M., van Haaften, Gijs, Genetica, Metabole ziekten onderzoek 1, Cancer, Genetica Groep Van Haaften, Genetica Klinische Genetica, Genetica Sectie Research, Child Health, Roessler, Helen I., Knoers, Nine V.A.M., van Haelst, Mieke M., and van Haaften, Gijs

Published
2021

8. Young adult with Cantú syndrome: Dealing with a rare genetic skin disorder

Author

Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Research, Child Health, Genetica Klinische Genetica, Roessler, Helen, I, van Haaften, Gijs, van Haelst, Mieke M., Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Research, Child Health, Genetica Klinische Genetica, Roessler, Helen, I, van Haaften, Gijs, and van Haelst, Mieke M.

Published
2021

10. ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle.

Author

Singareddy, Soma S., Roessler, Helen I., McClenaghan, Conor, Ikle, Jennifer M., Tryon, Robert C., van Haaften, Gijs, and Nichols, Colin G.

Subjects
*VASCULAR smooth muscle, *POTASSIUM channels, *BRACHYDANIO, *ION channels, *INTELLECTUAL disabilities
Abstract

ATP-sensitive potassiumchannels (KATP channels) are hetero-octameric nucleotide-gated ion channels that couple cellular metabolism to excitability in various tissues. In the heart, KATP channels are activated during ischaemia and potentially during adrenergic stimulation. In the vasculature, they are normally active at a low level, reducing vascular tone, but the ubiquitous nature of these channels leads to complex and poorly understood channelopathies as a result of gain- or loss-of-function mutations. Zebrafish (ZF) models of these channelopathies may provide insights to the link between molecular dysfunction and complex pathophysiology, but this requires understanding the tissue dependence of channel activity and subunit specificity. Thus far, direct analysis of ZF KATP expression and functional properties has only been performed in pancreatic ß-cells. Using a comprehensive combination of genetically modified fish, electrophysiology and gene expression analysis, we demonstrate that ZF cardiacmyocytes (CM) and vascular smoothmuscle (VSM) express functional KATP channels of similar subunit composition, structure and metabolic sensitivity to their mammalian counterparts. However, in contrast to mammalian cardiovascular KATP channels, ZF channels are insensitive to potassium channel opener drugs (pinacidil, minoxidil) in both chambers of the heart and in VSM. The results provide a first characterization of the molecular properties of fish KATP channels and validate the use of such genetically modified fish as models of human Cantú syndrome and ABCC9-related Intellectual Disability and Myopathy syndrome. [ABSTRACT FROM AUTHOR]

Published
2022
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11. 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

12. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Author

Genetica Groep Van Haaften, Child Health, Genetica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Cancer, Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V.A.M., Lee, Jin Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., van Haelst, Mieke M., Nichols, Colin G., van Haaften, Gijs, Genetica Groep Van Haaften, Child Health, Genetica, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Cancer, Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V.A.M., Lee, Jin Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., van Haelst, Mieke M., Nichols, Colin G., and van Haaften, Gijs

Published
2019

13. 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

17. Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Author

Genetica Groep Van Haaften, Hubrecht Institute with UMC, Child Health, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Medische Fysiologie, Circulatory Health, Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M.C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., Van Haelst, Mieke M., Van Haaften, Gijs, Bakkers, Jeroen, Genetica Groep Van Haaften, Hubrecht Institute with UMC, Child Health, Genetica Klinische Genetica, CMM Sectie Genomics and Bioinformatics, Medische Fysiologie, Circulatory Health, Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M.C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., Van Haelst, Mieke M., Van Haaften, Gijs, and Bakkers, Jeroen

Published
2018

18. Cantu syndrome-Associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-offunction by differential mechanisms

Author

Genetica Groep Van Haaften, CMM Sectie Genomics and Bioinformatics, Child Health, McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., Van Haaften, Gijs, Nichols, Colin G., Genetica Groep Van Haaften, CMM Sectie Genomics and Bioinformatics, Child Health, McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., Van Haaften, Gijs, and Nichols, Colin G.

Published
2018

19. Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients

Author

Genetica Groep Van Haaften, Genetica Klinische Genetica, Child Health, CMM Sectie Genomics and Bioinformatics, Roessler, Helen I, Volker-Touw, Catharina M L, Terhal, Paulien A, van Haaften, Gijs, van Haelst, Mieke M, Genetica Groep Van Haaften, Genetica Klinische Genetica, Child Health, CMM Sectie Genomics and Bioinformatics, Roessler, Helen I, Volker-Touw, Catharina M L, Terhal, Paulien A, van Haaften, Gijs, and van Haelst, Mieke M

Published
2018

21. 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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