Featured Publications
A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome
Hur DJ, Raymond GV, Kahler SG, Riegert‐Johnson D, Cohen BA, Boyadjiev SA. A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome. American Journal Of Medical Genetics Part A 2005, 135A: 36-40. PMID: 15810001, DOI: 10.1002/ajmg.a.30680.Peer-Reviewed Original ResearchConceptsKeutel syndromeMatrix Gla protein geneOptic nerve atrophyRare autosomal recessive conditionMid-dermal elastolysisFunction mutationsBone morphogenetic protein-2Autosomal recessive conditionConsanguineous Arab familyAbnormal cartilage calcificationNerve atrophyAbnormal calcificationCardinal featuresCalcification inhibitorsWhite matterClinical phenotypeTypical manifestationsRecessive conditionSoft tissueExtracellular matrix proteinsAffected individualsCartilage calcificationProtein 2Consanguineous familyConsensus donor splice site
2006
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nature Genetics 2006, 38: 1192-1197. PMID: 16980979, DOI: 10.1038/ng1876.Peer-Reviewed Original ResearchConceptsSutural dysplasiaSecretory proteinsEndoplasmic reticulumPositional cloning approachEndoplasmic reticulum exportCell-free vesiclesAmino acid substitutionsGolgi traffickingZebrafish embryosCloning approachGolgi complexCytoplasmic mislocalizationAcid substitutionsSkeletal defectsProteinReticulumVesiclesSutural cataractEssential componentFacial dysmorphismAutosomal recessive syndromeCOPIISEC23AMorpholinoSec31