2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Kundishora A, Allington G, McGee S, Mekbib K, Gainullin V, Timberlake A, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy P, Elsamadicy A, Dong W, Zhao S, Wang Y, Qureshi H, DiLuna M, Mane S, Tikhonova I, Fu P, Castaldi C, López-Giráldez F, Knight J, Furey C, Carter B, Haider S, Moreno-De-Luca A, Alper S, Gunel M, Millan F, Lifton R, Torene R, Jin S, Kahle K. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature Medicine 2023, 29: 667-678. PMID: 36879130, DOI: 10.1038/s41591-023-02238-2.Peer-Reviewed Original ResearchConceptsArachnoid cystCerebral arachnoid cystsDe novo variantsAC pathogenesisDevelopmental brain lesionsStructural brain diseaseAppropriate clinical contextPatients' medical recordsDamaging de novo variantsMedical recordsClinical severityBrain lesionsHealthy individualsAC subtypesBrain diseasesGenetic testingNeurodevelopmental pathologyClinical contextPathogenesisPatient phenotypesNeurodevelopmental programsNovo variantsRNA sequencing transcriptomeHuman brainCysts
2022
Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis
Qureshi H, Mekbib K, Allington G, Elsamadicy A, Duy P, Kundishora A, Jin S, Kahle K. Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis. Cerebral Cortex 2022, 33: 3012-3025. PMID: 35851401, PMCID: PMC10388392, DOI: 10.1093/cercor/bhac257.Peer-Reviewed Original ResearchMeSH KeywordsAgenesis of Corpus CallosumArachnoid CystsBrainHumansMagnetic Resonance ImagingSyndromeConceptsArachnoid cystAC pathogenesisGenetic factorsSpace-occupying lesionsCommon space-occupying lesionsChudley-McCullough syndromePrimary ciliary dyskinesiaClinical managementPerplexing lesionsDisease pathogenesisCiliary dyskinesiaAcrocallosal syndromeFamilial formsSyndromePathogenesisSyndromic formsNeurodevelopmental phenotypesCausative genesMendelian syndromesLesionsSignificant subsetHuman brainCystsMost casesAC formation