0000000000294929

AUTHOR

Andrea Kiss

showing 3 related works from this author

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

2010

Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5, which encodes tartrate-resistant phosphatase (TRAP), in 14 affected individuals and showed that these mutations abolish enzyme function in the serum and cells of affected individuals. Phosphorylated osteopontin, a protein involved in bone reabsorption and in immune regulation, accumulates in serum, urine and cells cultured from TRAP-deficient individuals. Case-derived dendritic cells exhibit an …

Malemedicine.medical_specialtyLymphocyteT cellAcid PhosphatasePhosphataseAutoimmunityOsteochondrodysplasiasmedicine.disease_causeBone and BonesAutoimmune DiseasesAutoimmunity03 medical and health sciences0302 clinical medicineInternal medicineGeneticsmedicineHumansGenetic Predisposition to DiseaseOsteopontinPhosphorylationChild030304 developmental biologyTartrate-resistant acid phosphatase030203 arthritis & rheumatologyBone Diseases Developmental0303 health sciencesbiologyTartrate-Resistant Acid PhosphataseHomozygoteBrainMetaphyseal dysplasiamedicine.disease3. Good healthIsoenzymesRadiographymedicine.anatomical_structureEndocrinologyDysplasiaMutationbiology.proteinCalciumOsteopontinNature Genetics
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The Early Spörer Minimum – A Period of Extraordinary Climate and Socio-economic Changes in Western and Central Europe

2016

Abstract. Throughout the last millennium, mankind was affected by prolonged deviations from the climate mean state. While periods like the Maunder Minimum in the 17th century have been assessed in greater detail, earlier cold periods such as the 15th century received much less attention due to the sparse information available. Based on new evidence from different sources ranging from proxy archives to model simulations, it is now possible to provide an end-to-end assessment about the climate state during an exceptionally cold period in the 15th century, the role of internal, unforced climate variability and external forcing in shaping these extreme climatic conditions, and the impacts on an…

Solar minimum010506 paleontology010504 meteorology & atmospheric sciences300 Social sciences sociology & anthropology530 PhysicsFood pricesSubsistence agricultureSeasonalitymedicine.disease01 natural sciencesProxy (climate)13. Climate actionClimatologymedicineFamine570 Life sciences; biologyClimate modelClimate state910 Geography & travel550 Earth sciences & geology900 History0105 earth and related environmental sciences
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The 1430s: a cold period of extraordinary internal climate variability during the early Spörer Minimum with social and economic impacts in north-west…

2016

Changes in climate affected human societies throughout the last millennium. While European cold periods in the 17th and 18th century have been assessed in detail, earlier cold periods received much less attention due to sparse information available. New evidence from proxy archives, historical documentary sources and climate model simulations permit us to provide an interdisciplinary, systematic assessment of an exceptionally cold period in the 15th century. Our assessment includes the role of internal, unforced climate variability and external forcing in shaping extreme climatic conditions and the impacts on and responses of the medieval society in north-western and central Europe. Climate…

010504 meteorology & atmospheric sciences530 PhysicsStratigraphyFood prices010502 geochemistry & geophysics01 natural sciencesProxy (climate)medicineEconomic impact analysis910 Geography & travel550 Earth sciences & geology0105 earth and related environmental sciencesGlobal and Planetary Change300 Social sciences sociology & anthropologyPaleontologySubsistence agriculture15. Life on landSeasonalitymedicine.disease13. Climate actionClimatologyFamine570 Life sciences; biologyClimate modelGlobal and Planetary Change900 History
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