0000000000330376

AUTHOR

K Lackner

showing 2 related works from this author

Acute Cerebrovascular Disease in the Young

2013

Background and Purpose— Strokes have especially devastating implications if they occur early in life; however, only limited information exists on the characteristics of acute cerebrovascular disease in young adults. Although risk factors and manifestation of atherosclerosis are commonly associated with stroke in the elderly, recent data suggests different causes for stroke in the young. We initiated the prospective, multinational European study Stroke in Young Fabry Patients (sifap) to characterize a cohort of young stroke patients. Methods— Overall, 5023 patients aged 18 to 55 years with the diagnosis of ischemic stroke (3396), hemorrhagic stroke (271), transient ischemic attack (1071) we…

AdultMalemedicine.medical_specialtyPediatricsAdolescentischemiccauseCohort StudiesYoung AdultRisk FactorsmedicineHumansrisk factorsProspective Studiescardiovascular diseasesYoung adultProspective cohort studyStrokeAdvanced and Specialized NursingIntracerebral hemorrhageFabry diseaseCerebral infarctionbusiness.industryAge Factorsimagingyoung strokeMiddle Agedmedicine.diseaseintracerebral hemorrhagestrokeFabry diseaseEuropeStrokeCerebrovascular DisordersNeurologytransient ischemic attackAcute DiseaseCohortPhysical therapyFabry DiseaseFemaleNeurology (clinical)Cardiology and Cardiovascular MedicinebusinessCohort studyStroke
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Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

2011

The chromosome 16p13 region has been associated with several autoimmune diseases, including type 1 diabetes (T1D) and multiple sclerosis (MS). CLEC16A has been reported as the most likely candidate gene in the region, since it contains the most disease-associated single-nucleotide polymorphisms (SNPs), as well as an imunoreceptor tyrosine-based activation motif. However, here we report that intron 19 of CLEC16A, containing the most autoimmune disease-associated SNPs, appears to behave as a regulatory sequence, affecting the expression of a neighbouring gene, DEXI. The CLEC16A alleles that are protective from T1D and MS are associated with increased expression of DEXI, and no other genes in …

Candidate geneQuantitative Trait LociSingle-nucleotide polymorphismBiologyPolymerase Chain ReactionPolymorphism Single NucleotideMonocytesAutoimmune Diseases03 medical and health sciences0302 clinical medicineGeneticsHumansEnhancerMolecular BiologyGeneGenetics (clinical)030304 developmental biologyGenetics0303 health sciencesIntronMembrane ProteinsPromoterGeneral MedicineArticlesDNADNA-Binding ProteinsRegulatory sequenceCandidate Disease Gene030217 neurology & neurosurgeryChromosomes Human Pair 16Human Molecular Genetics
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