Search results for "Xenotropic and Polytropic Retrovirus Receptor"

showing 2 items of 2 documents

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

2020

International audience; Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromo…

0301 basic medicineMaleCerebellumPathology[SDV]Life Sciences [q-bio]recessive brain calcificationMice0302 clinical medicineCognitive declineAge of OnsetChildGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUSBrain Diseasesprimary familial brain calcificationMalalties neurodegenerativesBrainFahr diseaseCalcinosisOCLNNeurodegenerative DiseasesHuman brainMiddle AgedPedigree[SDV] Life Sciences [q-bio]medicine.anatomical_structureKnockout mouseFemalemedicine.symptomAdultmedicine.medical_specialtyAdolescentGenes RecessiveNeuropathologyBiologyCalcificacióCalcification03 medical and health sciencesBasal Ganglia DiseasesReportGeneticsmedicineAnimalsHumansAllelesSLC20A2Cerebellar ataxiaknock out mouse modelmedicine.diseaseJAM2030104 developmental biologyFahr disease; familial idiopathic basal ganglia calcification; JAM2; JAM3; knock out mouse model; MYORG; OCLN; primary familial brain calcification; recessive brain calcification; SLC20A2familial idiopathic basal ganglia calcificationJAM3MYORGXenotropic and Polytropic Retrovirus ReceptorCell Adhesion Molecules030217 neurology & neurosurgeryCalcification
researchProduct

Usherin defects lead to early-onset retinal dysfunction in zebrafish

2018

Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2a(rmc1): c.2337_2342delinsAC; p.Cys780GlnfsTer32 and ush2a(b1245): c.15520_…

0301 basic medicineRetinal degenerationGenotyping TechniquesUsher syndrome2804 Cellular and Molecular NeuroscienceApoptosis030105 genetics & heredityBiologyArticleRetinaGermlineSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Gene Knockout Techniques03 medical and health sciencesCellular and Molecular NeuroscienceUSH2 complex2809 Sensory SystemsAll institutes and research themes of the Radboud University Medical CenterRetinitis pigmentosaElectroretinographymedicineotorhinolaryngologic diseasesJournal ArticleAnimalsMicroscopy ImmunoelectronZebrafishZebrafishExtracellular Matrix ProteinsRetinal DegenerationMembrane ProteinsZebrafish ProteinsRetinal Photoreceptor Cell Outer Segmentmedicine.diseasebiology.organism_classification2731 OphthalmologySensory Systems10124 Institute of Molecular Life SciencesCell biologyDisease Models AnimalOphthalmology030104 developmental biologyGene Expression RegulationEctodomainMutation570 Life sciences; biologyXenotropic and Polytropic Retrovirus ReceptorUsher SyndromesErg
researchProduct