Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-01997-8
Abstract: Amelogenesis imperfecta (AI) refers to a genetically and clinically heterogeneous group of inherited disorders affecting the structure, composition, and quantity of tooth enamel. Both non-syndromic and syndromic forms of AI have been described and several… read more here.
Keywords: canine models; amelogenesis imperfecta; enam; novel recessive ... See more keywords
Crown therapy in young individuals with amelogenesis imperfecta: Long term follow-up of a randomized controlled trial.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of dentistry"
DOI: 10.1016/j.jdent.2018.06.020
Abstract: OBJECTIVES Amelogenesis imperfecta (AI) is a rare, genetically determined defect in enamel mineralization. Several problems are associated with AI: hypersensitivity, wear, restorations requiring replacement, gingivitis, aesthetic problems, and social avoidance. We conducted a randomized controlled… read more here.
Keywords: randomized controlled; crown therapy; amelogenesis imperfecta; controlled trial ... See more keywords
NOVEL DLX3 VARIANTS IN AMELOGENESIS IMPERFECTA WITH ATTENUATED TRICHO-DENTO-OSSEOUS SYNDROME
Sign Up to like & getrecommendations! Published in 2021 at "Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology"
DOI: 10.1016/j.oooo.2021.03.184
Abstract: Background Variants in DLX3 cause tricho-dento-osseous syndrome (TDO; MIM accession no. 190320), a systemic condition with hair, nail, and bony changes, taurodontism, and amelogenesis imperfecta (AI) inherited in an autosomal dominant fashion. Different variants found… read more here.
Keywords: dento osseous; tricho dento; dlx3; dlx3 variants ... See more keywords
New missense variants in RELT causing hypomineralised amelogenesis imperfecta
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13721
Abstract: Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non‐syndromic AI. Recently variants in RELT, encoding an orphan receptor… read more here.
Keywords: new missense; variant; amelogenesis imperfecta; variants relt ... See more keywords
Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta.
Sign Up to like & getrecommendations! Published in 2018 at "Oral diseases"
DOI: 10.1111/odi.12724
Abstract: OBJECTIVE To explore the mineral features of dentin and cementum in hypoplastic Amelogenesis imperfecta AI teeth. MATERIALS AND METHODS Forty-four (44) teeth cleaned and free of caries were used: 20 control and 24 affected by… read more here.
Keywords: features connective; amelogenesis imperfecta; spectroscopy; hypoplastic amelogenesis ... See more keywords
Phenotypic Variability in LAMA3-Associated Amelogenesis Imperfecta.
Sign Up to like & getrecommendations! Published in 2022 at "Oral diseases"
DOI: 10.1111/odi.14425
Abstract: OBJECTIVE Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha-3) encodes a critical protein component of the basement membrane (laminin-332). Individuals carrying heterozygous LAMA3 mutations have previously been shown to have localized… read more here.
Keywords: lama3 mutations; amelogenesis imperfecta; enamel; enamel defects ... See more keywords
FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Dental Research"
DOI: 10.1177/0022034520962731
Abstract: Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder exhibiting severe hardness defects and reduced fracture toughness of dental enamel. While the condition is nonsyndromic, it can be associated with other craniofacial… read more here.
Keywords: fam83h; dominant hypocalcified; hypocalcified amelogenesis; amelogenesis imperfecta ... See more keywords
Autophagy Plays a Crucial Role in Ameloblast Differentiation.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of dental research"
DOI: 10.1177/00220345231169220
Abstract: Tooth enamel is generated by ameloblasts. Any failure in amelogenesis results in defects in the enamel, a condition known as amelogenesis imperfecta. Here, we report that mice with deficient autophagy in epithelial-derived tissues (K14-Cre;Atg7F/F and… read more here.
Keywords: amelogenesis imperfecta; amelogenesis; ameloblast differentiation; autophagy ... See more keywords
Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2017.00435
Abstract: Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics,… read more here.
Keywords: amelogenesis; isolation health; presenting isolation; amelogenesis imperfecta ... See more keywords
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2023.1130175
Abstract: Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and… read more here.
Keywords: witkop classification; amelogenesis imperfecta; amelogenesis; next generation ... See more keywords