2020
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine 2020, 26: 1754-1765. PMID: 33077954, PMCID: PMC7871900, DOI: 10.1038/s41591-020-1090-2.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusPoor neurodevelopmental outcomesPost-surgical patientsCerebrospinal fluid accumulationNeural stem cell biologyGenetic disruptionWhole-exome sequencingPrimary pathomechanismEarly brain developmentNeurodevelopmental outcomesHigh morbidityCSF diversionMutation burdenFluid accumulationBrain ventriclesCH casesBrain developmentDe novo mutationsPatientsExome sequencingCSF dynamicsDisease mechanismsHydrocephalusNovo mutationsCell typesDerivation and validation of genome-wide polygenic score for urinary tract stone diagnosis
Paranjpe I, Tsao N, Judy R, Paranjpe M, Chaudhary K, Klarin D, Forrest I, O’Hagan R, Kapoor A, Pfail J, Jaladanki S, Chaudhry F, Vaid A, Duy PQ, Team C, Team R, He JC, Glicksberg BS, Coca SG, Gupta M, Do R, Damrauer SM, Nadkarni GN. Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis. Kidney International 2020, 98: 1323-1330. PMID: 32540406, PMCID: PMC7606592, DOI: 10.1016/j.kint.2020.04.055.Peer-Reviewed Original ResearchGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePolymorphism, Single NucleotideUnited KingdomUrinary Calculi
2019
Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital Hydrocephalus
Duy PQ, Furey CG, Kahle KT. Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital Hydrocephalus. Trends In Molecular Medicine 2019, 25: 467-469. PMID: 30975633, DOI: 10.1016/j.molmed.2019.03.004.Peer-Reviewed Original ResearchMeSH KeywordsBrainGenetic Predisposition to DiseaseHumansHydrocephalusMicroRNAsNeural Stem CellsNeurogenesisTranscription FactorsTripartite Motif ProteinsUbiquitin-Protein Ligases