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Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa-Signposts to Severity: Enamel Phenotype.
J Invest Dermatol
February 2025
Faculty of Dentistry, University of Chile, Santiago, Chile; Facultad de Medicina y Odontoloxia, Universidad de Santiago de Compostela, Santiago, Spain.
Enamel Phenotype in Junctional Epidermolysis Bullosa.
J Invest Dermatol
February 2025
Adult Epidermolysis Bullosa Unit, Department of Dermatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom.
Enamel renal gingival syndrome in Indian scenario: A systematic review.
Med J Armed Forces India
October 2024
Commandant, Army Dental Centre (Research & Referral), New Delhi, India.
Background: Enamel renal gingival syndrome (ERS) is a genetic disorder caused by mutations in the FAM20A gene located on long arm of chromosome 17. It is characterized by presence of intra-oral features like hypoplastic type of amelogenesis imperfecta, fibromatosis of gingiva and nephrocalcinosis in addition to delayed eruption. The oral phenotype is evident in childhood, whereas the renal involvement is clinically silent at this age and requires further investigation for detection at later age.
View Article and Find Full Text PDFDevelopmental basis of natural tooth shape variation in cichlid fishes.
Naturwissenschaften
January 2025
Institute of Bioengineering and Biosciences, School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA.
While most dentate non-mammalian vertebrates possess simple conical teeth, some demonstrate complex tooth shapes. Lake Malawi cichlid fishes are an extreme example of this, exhibiting a myriad of tooth shapes driven by an ecologically derived rapid evolution of closely related but distinct species. Tooth shape in mammals is generally considered to be established by signaling centers called primary and secondary enamel knots, which are not believed to be present in non-mammalian vertebrates.
View Article and Find Full Text PDF[Frameshift mutation in gene causes amelogenesis imperfecta].
Beijing Da Xue Xue Bao Yi Xue Ban
February 2025
Department of Cariology and Endodontology, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
Objective: To analyze gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta (AI) in China, and to study the relationship between its genotype and phenotype.
Methods: Clinical and radiological features were recorded for the affected individuals. Peripheral venous blood samples of the patient and family members were collected for further study, and the genomic DNA was extracted to identify the pathogenic gene.
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