Molecular‐based phenotype variations in amelogenesis imperfecta

J Dong, W Ruan, X Duan - Oral Diseases, 2023 - Wiley Online Library
Amelogenesis imperfecta (AI) is one of the typical dental genetic diseases in human. It can
occur isolatedly or as part of a syndrome. Previous reports have mainly clarified the types …

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification

A Bloch-Zupan, T Rey, A Jimenez-Armijo… - Frontiers in …, 2023 - frontiersin.org
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 …

Maturation stage enamel defects in Odontogenesis‐associated phosphoprotein (Odaph) deficient mice

Y Ji, C Li, Y Tian, Y Gao, Z Dong, L Xiang… - Developmental …, 2021 - Wiley Online Library
Abstract Background Mutation in Odontogenesis‐associated phosphoprotein (ODAPH) has
been reported to cause recessive hypomineralized amelogenesis imperfecta (AI) in human …

MMP20 overexpression disrupts molar ameloblast polarity and migration

M Shin, MB Chavez, A Ikeda… - Journal of Dental …, 2018 - journals.sagepub.com
Ameloblasts responsible for enamel formation express matrix metalloproteinase 20
(MMP20), an enzyme that cleaves enamel matrix proteins, including amelogenin (AMELX) …

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification

A Bloch, T Rey, A Jimenez-Armijo, M Kawczynski… - Frontiers in …, 2023 - hal.science
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 …

Dental malformations associated with biallelic MMP20 mutations

SK Wang, H Zhang, MB Chavez, Y Hu… - Molecular genetics & …, 2020 - Wiley Online Library
Abstract Background Matrix metallopeptidase 20 (MMP20) is an evolutionarily conserved
protease that is essential for processing enamel matrix proteins during dental enamel …

Mobility gene expression differences among wild-type, Mmp20 null and Mmp20 over-expresser mice plus visualization of 3D mouse ameloblast directional …

M Shin, A Matsushima, J Nagao, Y Tanaka… - Scientific Reports, 2023 - nature.com
Enamel forming ameloblasts move away from the dentino-enamel junction and also move
relative to each other to establish enamel shape during the secretory stage of enamel …

Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture

B Urzúa, A Ortega-Pinto, D Adorno-Farias… - Frontiers in Dental …, 2021 - frontiersin.org
Objective: To identify which genes are associated with the clinical phenotype of
amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the …

[HTML][HTML] Genes involved in amelogenesis imperfecta. Part I

V Simancas-Escorcia, A Natera… - Revista Facultad de …, 2018 - scielo.org.co
Amelogenesis imperfecta (AI) refers to a group of genetic alterations of the normal structure
of the dental enamel that disturbs its clinical appearance. AI is classified as hypoplastic …

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

G Nikolopoulos, CEL Smith, JA Poulter… - Human …, 2021 - Wiley Online Library
Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel
defects that typically have Mendelian inheritance. Exome sequencing of 10 families with …