0000000000249268

AUTHOR

Klaus Zerres

showing 4 related works from this author

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

2013

Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjogren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjogren syndrome triad (ataxia, cataracts, m…

MalePathologymedicine.medical_specialtyAtaxiaultrastructure [Muscle Skeletal]SIL1 protein humanAdolescentMarinesco–Sjögren syndromeDNA Mutational Analysisgenetics [Mutation]Bioinformaticsmedicine.disease_causepathology [Muscle Skeletal]physiopathology [Spinocerebellar Degenerations]Cataractspathology [Brain]Intellectual disabilitymedicineGuanine Nucleotide Exchange FactorsHumansddc:610MyopathyMuscle SkeletalCells CulturedRetrospective StudiesSpinocerebellar DegenerationsFamily HealthMutationB-LymphocytesCerebellar ataxiabusiness.industryBrainmedicine.diseasegenetics [Guanine Nucleotide Exchange Factors]Magnetic Resonance Imaging10124 Institute of Molecular Life Sciencesgenetics [Spinocerebellar Degenerations]2728 Neurology (clinical)pathology [Spinocerebellar Degenerations]Mutationultrastructure [Brain]570 Life sciences; biologyAllelic heterogeneityFemaleNeurology (clinical)Neurosciences & Neurologymedicine.symptombusinessBrain : a journal of neurology
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Alcohol Consumption in HealthyOPRM1G Allele Carriers and Its Association with Impulsive Behavior

2015

AIMS: A link between alcohol use disorders (AUD) and impulsivity is well established. As there is evidence for the heritability of AUD, the investigation of the underlying genetic disposition for both conditions is an important issue. An association between AUD and a coding single nucleotide polymorphism (SNP) (rs1799971 encoding an Asn40Asp amino acid substitution, A118G) within the µ-opioid receptor 1 gene (OPRM1) has been reported. Therefore we tested the association between the OPRM1 A118G polymorphism and drinking as well as impulsive behavior in social drinkers. METHODS: A total of 214 healthy male social drinkers were recruited. Each participant was genotyped for the OPRM1 A118G vari…

AdultMalemedicine.medical_specialtyAlcohol DrinkingGenotypePerseverationReceptors Opioid muPoison controlSingle-nucleotide polymorphismImpulsivityPolymorphism Single NucleotideYoung AdultPolymorphism (computer science)medicineGenetic predispositionHumansGenetic Predisposition to DiseaseAllelePsychiatryAllelesAlcohol Use Disorders Identification TestGeneral MedicineMiddle AgedImpulsive Behaviormedicine.symptomPsychologyClinical psychologyAlcohol and Alcoholism
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MAOA-VNTR polymorphism modulates context-dependent dopamine release and aggressive behavior in males

2016

A recent [F-18]FDOPA-PET study reports negative correlations between dopamine synthesis rates and aggressive behavior. Since dopamine is among the substrates for monoamine oxidase A (MAOA), this investigation examines whether functional allelic variants of the MAOA tandem repeat (VNTR) promotor polymorphism, which is known to modulate aggressive behavior, influences dopamine release and aggression in response to violent visual stimuli. We selected from a genetic prescreening sample, strictly case-matched groups of 2 x 12 healthy male subjects with VNTRs predictive of high (MAOA-High) and low (MAOA-Low) MAOA expression. Subjects underwent pairs of PET sessions (dopamine D-2/3 ligand [F-18]DM…

Male0301 basic medicinemedicine.medical_specialtyGenotypeCognitive NeuroscienceDopamineContext (language use)Polymorphism Single NucleotideDevelopmental psychologyYoung Adult03 medical and health sciences0302 clinical medicineDopaminePolymorphism (computer science)Dopamine receptor D2Internal medicineImage Processing Computer-AssistedmedicineHumansMAOAYoung adultMonoamine OxidasebiologyAggressionDopaminergicBrainDMFPAggression030104 developmental biologyEndocrinologyPETNeurologyPositron-Emission Tomographybiology.proteinmedicine.symptomMonoamine oxidase APsychology030217 neurology & neurosurgerymedicine.drug
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Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p

2000

We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511–518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included “butterfly” vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidney…

medicine.medical_specialtyPathologyGenetic heterogeneityBiologyCystic Changemedicine.diseaseAutosomal Recessive Polycystic Kidney DiseaseEndocrinologyGenetic linkageInternal medicinemedicineCystHypertelorismmedicine.symptomGenetics (clinical)Potter SyndromeKidney diseaseAmerican Journal of Medical Genetics
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