Featured Publications
A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans
Günel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedBrain NeoplasmsChildChild, PreschoolChromosomes, Human, Pair 7FemaleGenetic LinkageHemangioma, CavernousHispanic or LatinoHumansIntracranial Arteriovenous MalformationsMaleMiddle AgedMutationPedigreeConceptsCavernous malformationsCerebral cavernous malformationsSporadic casesFamilial diseaseSame mutationSporadic cavernous malformationsDevelopment of symptomsHispanic AmericansCerebral hemorrhageVascular diseaseAsymptomatic carriersHigh prevalenceClinical casesMalformationsDiseaseFounder mutationPatientsAge dependenceAffected membersKindredsMarkersMexican descentEthnic groupsMutationsSame allele
2024
APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation
Renedo D, Rivier C, Koo A, Sujijantarat N, Clocchiatti-Tuozzo S, Wu K, Torres-Lopez V, Huo S, Gunel M, de Havenon A, Sheth K, Matouk C, Falcone G. APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation. JAMA Network Open 2024, 7: e2355368. PMID: 38363572, PMCID: PMC10873768, DOI: 10.1001/jamanetworkopen.2023.55368.Peer-Reviewed Original ResearchMeSH KeywordsApolipoprotein E4BrainCerebral Amyloid AngiopathyCerebral HemorrhageCross-Sectional StudiesFemaleHumansIntracranial Arteriovenous MalformationsMaleMiddle AgedConceptsApolipoprotein E e4Participants of European ancestryRisk of intracerebral hemorrhageHigh risk of intracerebral hemorrhageCross-sectional studyUK BiobankEuropean ancestryHigh riskUs Research ProgramUK Biobank participantsInternational Classification of DiseasesAssociated with higher risk of ICHCross-sectional study of patientsAPOE e4 statusClassification of DiseasesApolipoprotein ENinth Revision and Tenth RevisionAssociated with higher riskIndividual-level dataMultivariate logistic regressionIntracerebral hemorrhage riskBrain arteriovenous malformationsIntracerebral hemorrhageBiobank participantsTenth Revision
2016
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.
Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M. Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. Journal Of Neurosurgery 2016, 126: 1879-1883. PMID: 27611203, DOI: 10.3171/2016.6.jns16665.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IIAdultExome SequencingFemaleHumansIntracranial Arteriovenous MalformationsMaleMiddle AgedMutationPedigreeYoung AdultConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaWhole-exome sequencingArteriovenous malformationsExome sequencingWhole-exome sequencing analysisSpinal arteriovenous malformationsDiagnostic classification schemesExome sequencing analysisComprehensive genomic characterizationConclusion Study resultsCranial MRIDirect Sanger sequencingHemorrhagic telangiectasiaBlood samplesFamilial occurrenceHeterozygous mutationsACVRL1 mutationsPatientsThree SiblingsFourth siblingVariant segregationSanger sequencingMalformationsSiblings
2014
Commentary: Unruptured Brain Arteriovenous Malformations: What a Tangled Web They Weave
Amin-Hanjani S, Albuquerque FC, Britz G, Connolly ES, Gunel M, Lavine SD, Lawton MT, MacDonald J, Ogilvy CS, Prestigiacomo CJ. Commentary: Unruptured Brain Arteriovenous Malformations: What a Tangled Web They Weave. Neurosurgery 2014, 75: 195-196. PMID: 24867203, DOI: 10.1227/neu.0000000000000418.Peer-Reviewed Original ResearchEmbolization, TherapeuticFemaleHumansIntracranial Arteriovenous MalformationsMaleRadiosurgeryWatchful Waiting
2008
PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit.
Tanriover G, Boylan AJ, Diluna ML, Pricola KL, Louvi A, Gunel M. PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. Neurosurgery 2008, 62: 930-8; discussion 938. PMID: 18496199, DOI: 10.1227/01.neu.0000318179.02912.ca.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosis Regulatory ProteinsCerebral ArteriesEndothelium, VascularHumansIntracranial Arteriovenous MalformationsMembrane ProteinsMiceMutationProto-Oncogene ProteinsTissue DistributionConceptsMultiple organ systemsNeurovascular unitPostnatal mouse brainCerebral cavernous malformation 3Mouse brainCell death 10 geneArterial endotheliumOrgan systemsGranule cell layerMessenger ribonucleic acid expressionRibonucleic acid expressionCCM3/PDCD10Brainstem tissueEmbryonic mouse brainSeptal nucleusCortical plateDentate gyrusHypothalamic nucleiOlfactory bulbHuman cerebralInferior colliculusSolid organ tissuesVenous structuresVenous endotheliumDisease pathogenesis
2007
Cerebrovascular disease associated with Aarskog-Scott syndrome
DiLuna ML, Amankulor NM, Johnson MH, Gunel M. Cerebrovascular disease associated with Aarskog-Scott syndrome. Neuroradiology 2007, 49: 457-461. PMID: 17294235, DOI: 10.1007/s00234-007-0209-1.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAdolescentBasilar ArteryCarotid Artery, InternalCerebellumCerebral AngiographyCraniofacial AbnormalitiesCryptorchidismGenes, DominantGuanine Nucleotide Exchange FactorsHernia, InguinalHumansIntracranial AneurysmIntracranial Arteriovenous MalformationsMagnetic Resonance AngiographyMagnetic Resonance ImagingMaleSyndrome
2005
Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations
Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M. Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations. Stroke 2005, 36: 2479-2480. PMID: 16239636, DOI: 10.1161/01.str.0000183616.99139.d3.Peer-Reviewed Original ResearchMeSH KeywordsApoptosis Regulatory ProteinsBlood VesselsCarrier ProteinsChildDNA Mutational AnalysisExonsFamily HealthFemaleFrameshift MutationGene Expression RegulationHumansIntracranial Arteriovenous MalformationsKRIT1 ProteinMaleMembrane ProteinsMicrotubule-Associated ProteinsModels, GeneticMutationPedigreeProto-Oncogene ProteinsConceptsMutational analysisCerebral cavernous malformationsDistinct genetic originsCCM genesCerebral venous malformationSuch mutationsCausative genesUnique familyFrameshift mutationGenesGenetic originCCM1 geneCommon originMutationsFamilyVenous malformationsPathogenetic mechanismsCavernous malformationsMembersDistinct biologyPDCD10BiologyExon 19KRIT1Different pathogenetic mechanisms
2003
Mutational analysis of 206 families with cavernous malformations.
Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M. Mutational analysis of 206 families with cavernous malformations. Journal Of Neurosurgery 2003, 99: 38-43. PMID: 12854741, DOI: 10.3171/jns.2003.99.1.0038.Peer-Reviewed Original Research
1998
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25.2–27
Craig H, Günel M, Cepeda O, Johnson E, Ptacek L, Steinberg G, Ogilvy C, Berg M, Crawford S, Scott R, Steichen-Gersdorf E, Sabroe R, Kennedy C, Mettler G, Beis M, Fryer A, Awad I, Lifton R. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25.2–27. Human Molecular Genetics 1998, 7: 1851-1858. PMID: 9811928, DOI: 10.1093/hmg/7.12.1851.Peer-Reviewed Original Research