Search results for "Whole exome sequencing"

showing 2 items of 22 documents

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

2019

The heterogeneous nuclear ribonucleoprotein (HNRNP) genes code for a set of RNA-binding proteins that function primarily in the spliceosome C complex. Pathogenic variants in these genes can drive neurodegeneration, through a mechanism involving excessive stress-granule formation, or developmental defects, through mechanisms that are not known. Here, we report four unrelated individuals who have truncating or missense variants in the same C-terminal region of hnRNPR and who have multisystem developmental defects including abnormalities of the brain and skeleton, dysmorphic facies, brachydactyly, seizures, and hypoplastic external genitalia. We further identified in the literature a fifth ind…

TBX1MaleSpliceosomeHeterogeneous nuclear ribonucleoproteinDevelopmental DisabilitiesRNA SplicingBiologyHeterogeneous-Nuclear Ribonucleoproteins/geneticsHeterogeneous-Nuclear RibonucleoproteinsArticleWhole Exome Sequencing03 medical and health sciences0302 clinical medicineExome SequencingGeneticsHumansGenes Homeobox/geneticsPreschoolHox geneChildGeneTranscription factorGenetics (clinical)RNA Splicing/genetics030304 developmental biologyGeneticsFibroblasts/metabolism0303 health sciencesHomeobox/geneticsGenes HomeoboxInfantFibroblastsOxidative StressPhenotypeGenesDevelopmental Disabilities/etiologyGene Expression RegulationChild PreschoolRNA splicingMutationHomeoboxFemale030217 neurology & neurosurgery
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Genetic analysis of familial Alzheimer’s disease, primary lateral sclerosis and paroxysmal kinesigenic dyskinesia: a tool to uncover common mechanist…

2021

Tesis doctoral 270 p. figuras y tablas

paroxysmal kinesigenic dyskinesiaamyotrophic lateral sclerosisUNESCO::CIENCIAS DE LA VIDAWhole exome sequencingParoxysmal kinesigenic dyskinesiaNnsense mediated mRNA decayalzheimer's diseaseAlzheimer's diseaseAmyotrophic lateral sclerosis:CIENCIAS DE LA VIDA [UNESCO]whole exome sequencingnonsense mediated mRNA decay
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