Search results for "Exome"

showing 2 items of 202 documents

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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Variants of human CLDN9 cause mild to profound hearing loss

2021

Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing of probands identified a homozygous c.475G>A;p.(Glu159Lys) variant of CLDN9 (NM_020982.4) in one family and a homozygous c.370_372dupATC;p.(Ile124dup) CLDN9 variant in an affected individual of a second family. Claudin 9 (CLDN9) is an integral membrane protein and constituent of epithelial bicellular tight junctions that form semi-permeable, paracellular barriers between inner ear perilymphatic and endolymphatic compartment…

tight junctionsAdolescentclaudin 9In situ hybridizationDeafnessBiologyArticleFrameshift mutationMiceotorhinolaryngologic diseasesGeneticsmedicineAnimalsHumansPakistanInner earNonsyndromic deafnessChildClaudinGenetics (clinical)Exome sequencingnonsyndromic deafnessTight junctionGenetic heterogeneityclaudin 9; exome sequencing; Morocco; nonsyndromic deafness; Pakistan; tight junctionsHomozygotemedicine.diseaseMolecular biologyPedigreeMoroccomedicine.anatomical_structureClaudinsMutationexome sequencingHeLa CellsHuman Mutation
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