2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Duy P, Jux B, Zhao S, Mekbib K, Dennis E, Dong W, Nelson-Williams C, Mehta N, Shohfi J, Juusola J, Allington G, Smith H, Marlin S, Belhous K, Monteleone B, Schaefer G, Pisarska M, Vásquez J, Estrada-Veras J, Keren B, Mignot C, Flore L, Palafoll I, Alper S, Lifton R, Haider S, Moreno-De-Luca A, Jin S, Kolanus W, Kahle K. TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus. Brain 2024, 147: 4292-4305. PMID: 38833623, PMCID: PMC11629693, DOI: 10.1093/brain/awae175.Peer-Reviewed Original ResearchCongenital hydrocephalusCerebral ventriculomegalyStructural brain defectsCohort of patientsAnalysis of human embryosNeurodevelopmental syndromeCorpus callosum dysgenesisWhite matter hypoplasiaSingle-cell transcriptome analysisNeural stem cellsDysmorphic featuresTransmitted variantsPatient cohortVentriculomegalyNHL domainCross-sectional analysisLin-41Subcellular localizationBrain defectsDevelopmental delayHuman embryosProcessing bodiesHomologous positionsPatientsStem cells
2021
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
Runge K, Mathieu R, Bugeon S, Lafi S, Beurrier C, Sahu S, Schaller F, Loubat A, Herault L, Gaillard S, Pallesi-Pocachard E, Montheil A, Bosio A, Rosenfeld JA, Hudson E, Lindstrom K, Mercimek-Andrews S, Jeffries L, van Haeringen A, Vanakker O, Van Hecke A, Amrom D, Küry S, Ratner C, Jethva R, Gamble C, Jacq B, Fasano L, Santpere G, Lorente-Galdos B, Sestan N, Gelot A, Giacuzz S, Goebbels S, Represa A, Cardoso C, Cremer H, de Chevigny A. Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons. Molecular Psychiatry 2021, 26: 7852-7852. PMID: 34282265, PMCID: PMC8873008, DOI: 10.1038/s41380-021-01234-7.Peer-Reviewed Original Research
2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). Journal Of Medical Genetics 2018, 56: 332. PMID: 30487245, PMCID: PMC6581149, DOI: 10.1136/jmedgenet-2018-105623.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleBrainChildChild, PreschoolConsanguinityExome SequencingFaciesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHomeodomain ProteinsHomozygoteHumansInfantLoss of Function MutationMagnetic Resonance ImagingMaleModels, MolecularNeurodevelopmental DisordersPedigreePhenotypePolymorphism, Single NucleotideProtein ConformationSyndromeConceptsScrotal agenesisCerebellar hypoplasiaCharacteristic facial gestaltHomozygous truncating variantConsanguineous familyUnrelated consanguineous familiesOphthalmological anomaliesSyndromic neurodevelopmental disorderCardinal featuresCerebello-oculoCorneal dystrophyLabioscrotal foldsTruncating variantsFunction variantsFacial gestaltExome sequencingSyndromeSimilar phenotypic featuresGenetic causeFacial dysmorphismNeurodevelopmental disordersMissense variantsVariable microcephalyNeurodevelopmental syndromeAffected individuals
2015
Chapter 47 Animal Models of Tourette Syndrome and Obsessive-Compulsive Disorder
Pittenger C. Chapter 47 Animal Models of Tourette Syndrome and Obsessive-Compulsive Disorder. 2015, 747-764. DOI: 10.1016/b978-0-12-405195-9.00047-0.Peer-Reviewed Original ResearchObsessive-compulsive disorderTourette syndromeAnimal modelsCortico-basal ganglia circuitryAvailable pharmacological interventionsDysregulation of dopamineValid animal modelInhibitory transmissionSensory abnormalitiesSerotonergic modulationVocal ticsPharmacological interventionsLimited efficacyPrevalent diseaseNeuropsychiatric conditionsSyndromeModels of OCDComplex disorderNeurodevelopmental syndromeDisordersPathophysiologyNeurobiological processesPredictive validitySame circuitryBehavioral manipulation
2008
Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders. American Journal Of Human Genetics 2008, 82: 165-173. PMID: 18179895, PMCID: PMC2253974, DOI: 10.1016/j.ajhg.2007.09.017.Peer-Reviewed Original ResearchConceptsAutism susceptibility candidate 2Contactin 4Plasma membrane fractionSynaptic plasma membrane fractionMolecular cytogenetic analysisComplex genetic etiologyRare variantsBioinformatics approachConserved positionNonsynonymous changesMembrane fractionRare homozygous mutationControl chromosomesBiochemical analysisNeurodevelopmental syndromeGenetic etiologyPathophysiology of ASDCandidate 2Recent findingsHomozygous mutationUnrelated familiesCytogenetic analysisMutationsVariantsResequencing
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