2022
Chapter 4 Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Syndromes
Ercan-Sencicek A, Chennappan S, Aromalaran K, Kontaridis M. Chapter 4 Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Syndromes. 2022, 65-110. DOI: 10.1016/b978-0-323-85765-9.00007-2.ChaptersCostello syndromeNoonan syndromeInducible pluripotent stem cellsMultiple lentiginesDistinct disease characteristicsRare autosomal dominant diseaseNonhuman model systemsAutosomal dominant diseaseStem cellsAnimal model systemsPluripotent stem cellsClinical presentationDisease characteristicsTherapeutic efficacySyndromeGermline mutationsDominant diseaseNeurodevelopmental defectsRAS-PI3KAkt signalingDisease mechanismsRAS-mitogen-activated protein kinaseDisordersPatientsDifferential activation
2020
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Meriç R, Ercan-Sencicek AG, Uludağ Alkaya D, Şahin Y, Sar M, Bilguvar K, Tüysüz B. A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant. Clinical Dysmorphology 2020, 30: 54-57. PMID: 32969855, DOI: 10.1097/mcd.0000000000000350.Peer-Reviewed Case Reports and Technical Notes
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
2012
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 2012, 338: 394-397. PMID: 22956686, PMCID: PMC3704165, DOI: 10.1126/science.1224631.Peer-Reviewed Original ResearchMeSH Keywords3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)AdolescentAmino Acids, Branched-ChainAnimalsArginineAutistic DisorderBase SequenceBrainChildChild, PreschoolDietEpilepsyFemaleHomozygoteHumansIntellectual DisabilityMaleMiceMice, KnockoutMolecular Sequence DataMutationPedigreePhosphorylationProtein FoldingProtein Structure, TertiaryRNA, MessengerYoung AdultConceptsBranched-chain ketoacid dehydrogenaseBrain amino acid profilesPlasma branched-chain amino acidsIntellectual disabilityBranched-chain amino acidsTreatable syndromeNeurobehavioral deficitsTreatable formSomatic treatmentsDietary supplementationKnockout miceEpilepsyPhosphorylation-mediated inactivationConsanguineous familyReciprocal social interactionSyndromeKetoacid dehydrogenaseAmino acid profileMessenger RNAAutism spectrum disorderE1α phosphorylationDisabilitySpectrum disorderHeterogeneous constellationAcid profile
2011
Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism
Ercan-Sencicek A, Wright N, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism. Brain And Development 2011, 34: 700-703. PMID: 22178197, PMCID: PMC3343226, DOI: 10.1016/j.braindev.2011.11.003.Peer-Reviewed Case Reports and Technical Notes
2010
Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome
Bayrakli F, Bilguvar K, Ceyhan D, Ercan‐Sencicek A, Cankaya T, Bayrakli S, Guney I, Mane S, State M, Gunel M. Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clinical Genetics 2010, 77: 499-502. PMID: 20447154, DOI: 10.1111/j.1399-0004.2010.01411.x.Commentaries, Editorials and Letters
2005
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rašin M, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Šestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science 2005, 310: 317-320. PMID: 16224024, DOI: 10.1126/science.1116502.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAnimalsAttention Deficit Disorder with HyperactivityBrainChildChild, PreschoolChromosome InversionChromosome MappingChromosomes, Human, Pair 13DNADNA Mutational AnalysisFemaleFrameshift MutationHumansIn Situ Hybridization, FluorescenceMaleMembrane ProteinsMiceMutationNerve Tissue ProteinsPedigreeSequence Analysis, DNATourette SyndromeConceptsSequence variantsTourette syndromeChromosomal inversionsFrameshift mutantsCandidate genesExpression patternsControl chromosomesPrimary neuronal culturesFrameshift mutationSLITRK1Independent occurrenceMotor ticsDevelopmental neuropsychiatric disordersChronic vocalNeuronal culturesIdentical variantsUnrelated probandsBrain regionsNeuropsychiatric disordersSyndrome