Hande Kaymakcalan Celebiler
Assistant Professor AdjunctCards
About
Research
Overview
PTEN Hamartoma tumor syndrome ( PHTS) in pediatric patients
Creation of Turkish PHTS patient registry
Genetics of overgrowth disorders with intellectual disability ( OGID)
Genetics of congenital heart disease
Genetics of autism spectrum disorders
Medical Research Interests
Autism Spectrum Disorder; Heart Defects, Congenital; Human Genetics; Intellectual Disability
Publications
2025
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsy
2023
Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Edizadeh M, Kaymakcalan H, Valilou S, Şahin Y. Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype. American Journal Of Medical Genetics Part A 2023, 191: 1465-1469. PMID: 36757286, DOI: 10.1002/ajmg.a.63146.Peer-Reviewed Original ResearchConceptsExome sequencingPathogenic variantsCo-segregation studiesE3 ubiquitin protein ligaseUbiquitin-protein ligaseSplice site variantIn silico algorithmsBiallelic pathogenic variantsSite variantsUBR7Co-segregationSanger sequencingAutosomal recessive disorderBioinformatics prediction analysisDysmorphic featuresVariation c.Turkish familyHeterozygous statePathogenic effectsRecessive disorderCongenital heart defectsVariantsSequenceHeart defectsGenital anomalies
2022
Investigation of the lawsuits regarding down syndrome
KAYMAKCALAN H. Investigation of the lawsuits regarding down syndrome. Marmara Medical Journal 2022 DOI: 10.5472/marumj.1186743.Peer-Reviewed Original ResearchInvestigation of the lawsuits regarding Down syndrome
KAYMAKCALAN H. Investigation of the lawsuits regarding Down syndrome. Marmara Medical Journal 2022, 35: 293-296. DOI: 10.5472/marumj.1195921.Peer-Reviewed Original ResearchClinical, 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 Notes
2021
Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)
KAYMAKCALAN H, Hande A, CAGLAYAN A, GULBAHAR O, GOKMEN E, NIKEREL E. Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE). Marmara Medical Journal 2021, 34: 274-278. DOI: 10.5472/marumj.1009115.Peer-Reviewed Original ResearchWhole-exome sequencingExome sequencingHereditary angioedemaU-HAEGenetic alterationsDownstream functional analysisMyoF geneNormal C1 inhibitorControl groupBlood coagulation pathwayGenesFunctional analysisNo significant differenceRare diseasePathwayC1 inhibitorMutationsPatientsUnknown causeCoagulation pathwaySequenceSignificant differenceAngioedemaVariantsC1QBPPrevalence 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 ResearchCorrelation of PAPP-A values with maternal characteristics, biochemical and ultrasonographic markers of pregrancy
KAYMAKCALAN H, UZUT O, HARKONEN J, BAKIR GUNGOR B. Correlation of PAPP-A values with maternal characteristics, biochemical and ultrasonographic markers of pregrancy. Marmara Medical Journal 2021, 34: 18-23. DOI: 10.5472/marumj.866601.Peer-Reviewed Original ResearchPAPP-A valuesPAPP-APregnant womenUltrasonographic markersMaternal characteristicsPregnancy-associated plasma protein-A levelsPregnancy-associated plasma protein-ANon-diabetic pregnant womenWomen of Caucasian originPAPP-A levelsPlasma protein-AProtein-A levelsCrown-rump lengthTrimester screeningCaucasian originTertiary hospitalMedical backgroundRisk predictionA levelsWomenProtein ARacial originSubgroupsMarkersTrimester