The Experts below are selected from a list of 2766 Experts worldwide ranked by ideXlab platform
Stephanie Hauk - One of the best experts on this subject based on the ideXlab platform.
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Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
Nature Genetics, 2007Co-Authors: Juliane Winkelmann, Barbara Schormair, Peter Lichtner, Stephan Ripke, Lan Xiong, Shapour Jalilzadeh, Stephany Fulda, Benno Pütz, Gertrud Eckstein, Stephanie HaukAbstract:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, Unpleasant Sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q, respectively. Two independent replications confirmed these association signals. Each genetic variant was associated with a more than 50% increase in risk for RLS, with the combined allelic variants conferring more than half of the risk. MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder.
Illes Kovacs - One of the best experts on this subject based on the ideXlab platform.
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abnormal activity of corneal cold thermoreceptors underlies the Unpleasant Sensations in dry eye disease
Pain, 2016Co-Authors: Illes Kovacs, Carolina Luna, Susana Quirce, Kamila Mizerska, Gerard Callejo, Ana Cristina Riestra, Laura Fernandezsanchez, Victor Meseguer, Nicolas Cuenca, Jesus MerayollovesAbstract:Dry eye disease (DED) affects >10% of the population worldwide, and it provokes an Unpleasant Sensation of ocular dryness, whose underlying neural mechanisms remain unknown. Removal of the main lachrymal gland in guinea pigs caused long-term reduction of basal tearing accompanied by changes in the architecture and density of subbasal corneal nerves and epithelial terminals. After 4 weeks, ongoing impulse activity and responses to cooling of corneal cold thermoreceptor endings were enhanced. Menthol (200 μM) first excited and then inactivated this augmented spontaneous and cold-evoked activity. Comparatively, corneal polymodal nociceptors of tear-deficient eyes remained silent and exhibited only a mild sensitization to acidic stimulation, whereas mechanonociceptors were not affected. Dryness-induced changes in peripheral cold thermoreceptor responsiveness developed in parallel with a progressive excitability enhancement of corneal cold trigeminal ganglion neurons, primarily due to an increase of sodium currents and a decrease of potassium currents. In corneal polymodal nociceptor neurons, sodium currents were enhanced whereas potassium currents remain unaltered. In healthy humans, exposure of the eye surface to menthol vapors or to cold air currents evoked Unpleasant Sensations accompanied by increased blinking frequency that we attributed to cold thermoreceptor stimulation. Notably, stimulation with menthol reduced the ongoing background discomfort of patients with DED, conceivably due to use-dependent inactivation of cold thermoreceptors. Together, these data indicate that cold thermoreceptors contribute importantly to the detection and signaling of ocular surface wetness, and develop under chronic eye dryness conditions an injury-evoked neuropathic firing that seems to underlie the Unpleasant Sensations experienced by patients with DED.
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Abnormal activity of corneal cold thermoreceptors underlies the Unpleasant Sensations in dry eye disease.
Pain, 2016Co-Authors: Illes Kovacs, Carolina Luna, Susana Quirce, Kamila Mizerska, Gerard Callejo, Ana Cristina Riestra, Nicolas Cuenca, Laura Fernández-sánchez, Víctor M. Meseguer, Jesús Merayo-llovesAbstract:Dry eye disease (DED) affects >10% of the population worldwide, and it provokes an Unpleasant Sensation of ocular dryness, whose underlying neural mechanisms remain unknown. Removal of the main lachrymal gland in guinea pigs caused long-term reduction of basal tearing accompanied by changes in the architecture and density of subbasal corneal nerves and epithelial terminals. After 4 weeks, ongoing impulse activity and responses to cooling of corneal cold thermoreceptor endings were enhanced. Menthol (200 μM) first excited and then inactivated this augmented spontaneous and cold-evoked activity. Comparatively, corneal polymodal nociceptors of tear-deficient eyes remained silent and exhibited only a mild sensitization to acidic stimulation, whereas mechanonociceptors were not affected. Dryness-induced changes in peripheral cold thermoreceptor responsiveness developed in parallel with a progressive excitability enhancement of corneal cold trigeminal ganglion neurons, primarily due to an increase of sodium currents and a decrease of potassium currents. In corneal polymodal nociceptor neurons, sodium currents were enhanced whereas potassium currents remain unaltered. In healthy humans, exposure of the eye surface to menthol vapors or to cold air currents evoked Unpleasant Sensations accompanied by increased blinking frequency that we attributed to cold thermoreceptor stimulation. Notably, stimulation with menthol reduced the ongoing background discomfort of patients with DED, conceivably due to use-dependent inactivation of cold thermoreceptors. Together, these data indicate that cold thermoreceptors contribute importantly to the detection and signaling of ocular surface wetness, and develop under chronic eye dryness conditions an injury-evoked neuropathic firing that seems to underlie the Unpleasant Sensations experienced by patients with DED.
Juliane Winkelmann - One of the best experts on this subject based on the ideXlab platform.
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Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
Nature Genetics, 2007Co-Authors: Juliane Winkelmann, Barbara Schormair, Peter Lichtner, Stephan Ripke, Lan Xiong, Shapour Jalilzadeh, Stephany Fulda, Benno Pütz, Gertrud Eckstein, Stephanie HaukAbstract:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, Unpleasant Sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q, respectively. Two independent replications confirmed these association signals. Each genetic variant was associated with a more than 50% increase in risk for RLS, with the combined allelic variants conferring more than half of the risk. MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder.
Jesus Merayolloves - One of the best experts on this subject based on the ideXlab platform.
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abnormal activity of corneal cold thermoreceptors underlies the Unpleasant Sensations in dry eye disease
Pain, 2016Co-Authors: Illes Kovacs, Carolina Luna, Susana Quirce, Kamila Mizerska, Gerard Callejo, Ana Cristina Riestra, Laura Fernandezsanchez, Victor Meseguer, Nicolas Cuenca, Jesus MerayollovesAbstract:Dry eye disease (DED) affects >10% of the population worldwide, and it provokes an Unpleasant Sensation of ocular dryness, whose underlying neural mechanisms remain unknown. Removal of the main lachrymal gland in guinea pigs caused long-term reduction of basal tearing accompanied by changes in the architecture and density of subbasal corneal nerves and epithelial terminals. After 4 weeks, ongoing impulse activity and responses to cooling of corneal cold thermoreceptor endings were enhanced. Menthol (200 μM) first excited and then inactivated this augmented spontaneous and cold-evoked activity. Comparatively, corneal polymodal nociceptors of tear-deficient eyes remained silent and exhibited only a mild sensitization to acidic stimulation, whereas mechanonociceptors were not affected. Dryness-induced changes in peripheral cold thermoreceptor responsiveness developed in parallel with a progressive excitability enhancement of corneal cold trigeminal ganglion neurons, primarily due to an increase of sodium currents and a decrease of potassium currents. In corneal polymodal nociceptor neurons, sodium currents were enhanced whereas potassium currents remain unaltered. In healthy humans, exposure of the eye surface to menthol vapors or to cold air currents evoked Unpleasant Sensations accompanied by increased blinking frequency that we attributed to cold thermoreceptor stimulation. Notably, stimulation with menthol reduced the ongoing background discomfort of patients with DED, conceivably due to use-dependent inactivation of cold thermoreceptors. Together, these data indicate that cold thermoreceptors contribute importantly to the detection and signaling of ocular surface wetness, and develop under chronic eye dryness conditions an injury-evoked neuropathic firing that seems to underlie the Unpleasant Sensations experienced by patients with DED.
Jesús Merayo-lloves - One of the best experts on this subject based on the ideXlab platform.
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Abnormal activity of corneal cold thermoreceptors underlies the Unpleasant Sensations in dry eye disease.
Pain, 2016Co-Authors: Illes Kovacs, Carolina Luna, Susana Quirce, Kamila Mizerska, Gerard Callejo, Ana Cristina Riestra, Nicolas Cuenca, Laura Fernández-sánchez, Víctor M. Meseguer, Jesús Merayo-llovesAbstract:Dry eye disease (DED) affects >10% of the population worldwide, and it provokes an Unpleasant Sensation of ocular dryness, whose underlying neural mechanisms remain unknown. Removal of the main lachrymal gland in guinea pigs caused long-term reduction of basal tearing accompanied by changes in the architecture and density of subbasal corneal nerves and epithelial terminals. After 4 weeks, ongoing impulse activity and responses to cooling of corneal cold thermoreceptor endings were enhanced. Menthol (200 μM) first excited and then inactivated this augmented spontaneous and cold-evoked activity. Comparatively, corneal polymodal nociceptors of tear-deficient eyes remained silent and exhibited only a mild sensitization to acidic stimulation, whereas mechanonociceptors were not affected. Dryness-induced changes in peripheral cold thermoreceptor responsiveness developed in parallel with a progressive excitability enhancement of corneal cold trigeminal ganglion neurons, primarily due to an increase of sodium currents and a decrease of potassium currents. In corneal polymodal nociceptor neurons, sodium currents were enhanced whereas potassium currents remain unaltered. In healthy humans, exposure of the eye surface to menthol vapors or to cold air currents evoked Unpleasant Sensations accompanied by increased blinking frequency that we attributed to cold thermoreceptor stimulation. Notably, stimulation with menthol reduced the ongoing background discomfort of patients with DED, conceivably due to use-dependent inactivation of cold thermoreceptors. Together, these data indicate that cold thermoreceptors contribute importantly to the detection and signaling of ocular surface wetness, and develop under chronic eye dryness conditions an injury-evoked neuropathic firing that seems to underlie the Unpleasant Sensations experienced by patients with DED.
