2020
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
Dong W, Jin SC, Allocco A, Zeng X, Sheth AH, Panchagnula S, Castonguay A, Lorenzo LÉ, Islam B, Brindle G, Bachand K, Hu J, Sularz A, Gaillard J, Choi J, Dunbar A, Nelson-Williams C, Kiziltug E, Furey CG, Conine S, Duy PQ, Kundishora AJ, Loring E, Li B, Lu Q, Zhou G, Liu W, Li X, Sierant MC, Mane S, Castaldi C, López-Giráldez F, Knight JR, Sekula RF, Simard JM, Eskandar EN, Gottschalk C, Moliterno J, Günel M, Gerrard JL, Dib-Hajj S, Waxman SG, Barker FG, Alper SL, Chahine M, Haider S, De Koninck Y, Lifton RP, Kahle KT. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. IScience 2020, 23: 101552. PMID: 33083721, PMCID: PMC7554653, DOI: 10.1016/j.isci.2020.101552.Peer-Reviewed Original ResearchTrigeminal neuralgiaNeuronal ion transportImpairment of GABAVoltage-gated CaMechanical allodyniaTN pathogenesisPain syndromePain behaviorGABA signalingReceptor ClDisease pathogenesisTN casesFamilial clusteringExome sequencingGenetic factorsVariant burdenNeuralgiaRare damaging variantsPathogenesisGABAChannel CaDamaging variantsProbandsParent-offspring triosLarge-scale genomic studies
2008
PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit.
Tanriover G, Boylan AJ, Diluna ML, Pricola KL, Louvi A, Gunel M. PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. Neurosurgery 2008, 62: 930-8; discussion 938. PMID: 18496199, DOI: 10.1227/01.neu.0000318179.02912.ca.Peer-Reviewed Original ResearchConceptsMultiple organ systemsNeurovascular unitPostnatal mouse brainCerebral cavernous malformation 3Mouse brainCell death 10 geneArterial endotheliumOrgan systemsGranule cell layerMessenger ribonucleic acid expressionRibonucleic acid expressionCCM3/PDCD10Brainstem tissueEmbryonic mouse brainSeptal nucleusCortical plateDentate gyrusHypothalamic nucleiOlfactory bulbHuman cerebralInferior colliculusSolid organ tissuesVenous structuresVenous endotheliumDisease pathogenesis