Adife Gulhan Ercan-Sencicek, MSc, MS, PhD
Research ScientistCards
About
Titles
Research Scientist
Appointments
Education & Training
- MS
- University of New Haven, Cellular & Molecular Biology (2004)
- PhD
- The Graduate School of Natural and Applied Sciences, Akdeniz University (2000)
- MSc
- The Graduate School of Natural and Applied Sciences, Akdeniz University (1996)
Research
Publications
2024
Exploring molecular and cellular mechanisms and phenotypic characteristics of NAGLU Arg234Gly and Asp312Asn variants
Kaymakcalan Celebiler H, Barak T, Rai D, Kaya I, Erbilgin S, Cikili Uytun M, Oztop D, Gumus H, Per H, Ceylaner S, Bozkurt I, Kontaridis M, Bilguvar K, Akhun N, Kilincaslan A, Caglayan A, Erson-Omay E, Gunel M, Ercan-Sencicek A. Exploring molecular and cellular mechanisms and phenotypic characteristics of NAGLU Arg234Gly and Asp312Asn variants. Molecular Syndromology 2024, 1-15. DOI: 10.1159/000542367.Peer-Reviewed Original ResearchWhole-exome sequencingStandard Sanger sequencingMucopolysaccharidosis type IIIBExome sequencingProgressive neurodegenerative disorderConsanguineous familySanger sequencingNAGLU genePhenotypic characteristicsMagnetic resonance imagingEnzymatic assayNeurodegenerative disordersAffected individualsLoss of activityNeurodegenerative symptomsAutosomal recessive lysosomal disorderCellular mechanismsVariantsLysosomal disorderEnzymeNormal MRI findingsSequenceMPS IIIBMRI findingsType IIIB
2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.Peer-Reviewed Original ResearchConceptsWild-type proteinInherited mutationsCardiac outflow tractDevelopmental heart defectsProtein functionLack ciliaPleiotropic rolesMechanistic convergenceNeural crestCiliary defectsSomatic variantsForebrain meningesCommon originDominant mannerMutationsTRAF7ZebrafishMutantsDisparate pathologiesHeterodimerizationKnockdownGeneticsProteinCiliaCongenital heart
2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Cali E, Suri M, Scala M, Ferla M, Alavi S, Faqeih E, Bijlsma E, Wigby K, Baralle D, Mehrjardi M, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov D, Jacober J, Littlejohn R, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Silfhout A, Herenger Y, Dehghani M, Seyedhassani S, Bahreini A, Nasab M, Ercan-Sencicek A, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani E, Salpietro V, Taylor J, Redman M, Stegmann A, Laner A, Abdel-Salam G, Li M, Bengala M, Müller A, Digilio M, Rauch A, Gunel M, Titheradge H, Schweitzer D, Kraus A, Valenzuela I, McLean S, Phornphutkul C, Salih M, Begtrup A, Schnur R, Torti E, Haack T, Prada C, Alkuraya F, Houlden H, Maroofian R. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics In Medicine 2022, 25: 135-142. PMID: 36399134, PMCID: PMC10620944, DOI: 10.1016/j.gim.2022.09.016.Peer-Reviewed Original ResearchConceptsShort statureClinical characteristicsSyndromic neurodevelopmental disorderNeurodevelopmental disordersSevere developmental delay/intellectual disabilityPhenotypic spectrumDetailed clinical characteristicsDevelopmental delay/intellectual disabilityMain clinical characteristicsProminent supraorbital ridgesThin upper lipBroad nasal tipProtein arginine methyltransferase 7Endocrine abnormalitiesEye abnormalitiesClinical informationIntellectual developmental disabilitiesPathogenic variantsShort noseVariable findingsNatural historyBifrontal narrowingNasal tipUpper lipLower lipChildhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1
Samur B, Ercan-Sencicek G, Gümüş H, Gumus G, Baykan A, Caglayan A, Per H. Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1. Journal Of Pediatric Neurology 2022 DOI: 10.1055/s-0042-1749669.Peer-Reviewed Case Reports and Technical NotesClinical, demographic and genetic features of patients with congenital heart disease : A single center experience
KAYMAKCALAN H, YALCINKAYA L, NIKEREL E, YALCIN Y, DONG W, Sencıcek A. Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience. Marmara Medical Journal 2022, 35: 159-163. DOI: 10.5472/marumj.1120570.Peer-Reviewed Original ResearchMutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLaterality defectsUnique genetic architectureCongenital heart diseaseConsanguineous familyGenetic architectureCausal genesCHD genesGenome analysisHomozygous variantGenetic landscapeGenetic lesionsGenomic alterationsHeart diseaseConsanguineous populationFunction variantsRecessive variantsCHD probandsGenesType of CHDMutation spectrumStructural congenital heart diseaseVariantsCHD subjectsAdditional patientsA rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome
Kaymakçalan H, Ercan-Şençiçek AG, Cebeci AN, Dong W, Yalçın A. A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome. The Anatolian Journal Of Cardiology 2022, 26: 149-150. PMID: 35190366, PMCID: PMC8878915, DOI: 10.5152/anatoljcardiol.2021.554.Peer-Reviewed Case Reports and Technical NotesChapter 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
2021
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine 2021, 27: 2165-2175. PMID: 34887573, PMCID: PMC8768030, DOI: 10.1038/s41591-021-01572-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPeptidyl-prolyl cis-transPathogenesis of IAContribution of variantsCommon genetic variantsVertebrate modelDeleterious mutationsWnt activatorAssociation studiesWhole-exome sequencingSignificant enrichmentGenetic variantsWntAngiogenesis regulatorsMutationsGene mutationsBrain angiogenesisIntracranial aneurysm ruptureJMJD6AngiogenesisCerebrovascular morphologyCerebrovascular integrityIntracerebral hemorrhageAneurysm ruptureVariantsPrevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly
Kaymakcalan H, Kaya İ, Binici N, Nikerel E, Özbaran B, Aksoy M, Erbilgin S, Özyurt G, Jahan N, Çelik D, Yararbaş K, Yalçınkaya L, Köse S, Durak S, Ercan‐Sencicek A. Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly. Molecular Genetics & Genomic Medicine 2021, 9: e1739. PMID: 34268892, PMCID: PMC8404225, DOI: 10.1002/mgg3.1739.Peer-Reviewed Original Research