0000000000617921

AUTHOR

Martin Gencik

showing 3 related works from this author

TNFA promoter polymorphisms and narcolepsy

2003

Narcolepsy is a debilitating sleep disorder that affects up to 0.05% of individuals in Caucasian populations. It is highly associated with the HLA-DR2 group antigen or the HLA-DRB1*1501-DQB1*0602 haplotype, respectively. However, the HLA association by itself cannot sufficiently explain the increased risk to family members, as HLA-DR2 is quite common in the general population and most people harboring the respective genotype do not develop any symptoms of narcolepsy. Situated in the HLA class II region, the TNFA gene is translated into the pro-inflammatory cytokine TNF-alpha. TNFA promoter polymorphisms have been linked to several inflammatory and autoimmune diseases. We analyzed three SNP …

ImmunologyPopulationHuman leukocyte antigenBiochemistryPolymorphism Single NucleotideGene FrequencyGenotypeGeneticsmedicineImmunology and AllergySNPHumanseducationPromoter Regions GeneticAllelesGenetic associationNarcolepsyGeneticseducation.field_of_studyPolymorphism GeneticGenetic heterogeneitybusiness.industryTumor Necrosis Factor-alphaHaplotypeGeneral MedicineHLA-DR Antigensmedicine.diseaseImmunologybusinessNarcolepsyMicrosatellite Repeats
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Increased Frequency of Migraine in Narcoleptic Patients: A Confirmatory Study

2003

Previously we have reported an increased prevalence of migraine in narcoleptic patients. Because of the theoretical and clinical implications of this finding we recruited an independent new study sample of 100 patients with proven narcolepsy and conducted a structured 26-item interview based on the international diagnostic criteria for headache disorders, the Kiel Headache Questionnaire. Narcolepsy symptoms were measured by means of the Stanford Centre for Narcolepsy Sleep Inventory. Migraine prevalence was twofold to fourfold increased in the narcoleptic patients and amounted to 44.4% in women and 28.3% in men. The onset of narcolepsy symptoms was 12.3 ± 11.4 years before the onset of mig…

Pediatricsmedicine.medical_specialtyCataplexyCross-sectional studybusiness.industryGeneral Medicinemedicine.diseaseComorbidityMigrainemedicineNeurology (clinical)Headache DisordersAge of onsetmedicine.symptomPsychiatrybusinessBody mass indexNarcolepsyCephalalgia
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Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

2003

Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD). New insights into the pathophysiology of the dystrophic muscle, the identification of compensatory mechanisms and additional proteins interacting with dystrophin are essential for developing new treatments. In order to define molecular mechanisms induced by lack of dystrophin and the subsequent counter-regulatory transcriptional response of degenerating muscle fibres, we have investigated the mRNA expression of 19 functionally linked genes in biopsies of patients with MD by m…

musculoskeletal diseasesAdultMaleAdolescentTranscription GeneticGene Expressionmedicine.disease_causeMuscular DystrophiesStatistics NonparametricDystrophinGenetic linkageGene expressionmedicineHumansRNA MessengerMuscular dystrophyChildGeneGlycoproteinsMutationbiologyReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingMusclesMiddle Agedmedicine.diseaseCell biologyGene expression profilingMuscular Dystrophy DuchenneNeurologyChild PreschoolMutationbiology.proteinFemaleNeurology (clinical)DystrophinNeuroscienceLimb-girdle muscular dystrophyJournal of neurology
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