[HTML][HTML] Amelogenesis imperfecta; genes, proteins, and pathways

CEL Smith, JA Poulter, A Antanaviciute… - Frontiers in …, 2017 - frontiersin.org
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 …

Molecular and cellular mechanisms of tooth development, homeostasis and repair

T Yu, OD Klein - Development, 2020 - journals.biologists.com
The tooth provides an excellent system for deciphering the molecular mechanisms of
organogenesis, and has thus been of longstanding interest to developmental and stem cell …

[HTML][HTML] 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 …

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

MK Prasad, V Geoffroy, S Vicaire, B Jost… - Journal of medical …, 2016 - jmg.bmj.com
Background Orodental diseases include several clinically and genetically heterogeneous
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …

Mutations in RELT cause autosomal recessive amelogenesis imperfecta

JW Kim, H Zhang, F Seymen, M Koruyucu… - Clinical …, 2019 - Wiley Online Library
Amelogenesis imperfecta (AI) is a collection of isolated (non‐syndromic) inherited diseases
affecting dental enamel formation or a clinical phenotype in syndromic conditions. We …

[HTML][HTML] Biomimetic mineralisation systems for in situ enamel restoration inspired by amelogenesis

J Wang, Z Liu, B Ren, Q Wang, J Wu, N Yang… - Journal of Materials …, 2021 - Springer
Caries and dental erosion are common oral diseases. Traditional treatments involve the
mechanical removal of decay and filling but these methods are not suitable for cases …

[HTML][HTML] Mutations in the pH-sensing G-protein-coupled receptor GPR68 cause amelogenesis imperfecta

DA Parry, CEL Smith, W El-Sayed, JA Poulter… - The American Journal of …, 2016 - cell.com
Amelogenesis is the process of dental enamel formation, leading to the deposition of the
hardest tissue in the human body. This process requires the intricate regulation of ion …

Coemergence of the amphipathic helix on ameloblastin with mammalian prismatic enamel

J Su, RA Bapat, G Visakan… - Molecular Biology and …, 2022 - academic.oup.com
To investigate correlation between the ameloblastin (Ambn) amino acid sequence and the
emergence of prismatic enamel, a notable event in the evolution of ectodermal hard tissues …

[HTML][HTML] Overexpression of ameloblastin in secretory ameloblasts results in demarcated, hypomineralized opacities in enamel

YHP Chun, C Tan, O Villanueva, ME Colley… - Frontiers in …, 2024 - frontiersin.org
Introduction: Developmental defects of the enamel manifest before tooth eruption and
include amelogenesis imperfecta, a rare disease of underlying gene mutations, and molar …

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 …