Results 61 to 70 of about 12,368 (291)

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Clinical Genetics, 2020
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 in
G. Nikolopoulos, Claire E. L. Smith, S. Brookes, M. El-Asrag, C. Brown, A. Patel, G. Murillo, M. O’Connell, C. Inglehearn, A. Mighell   +9 more
semanticscholar   +1 more source

Functional role of inorganic trace elements on enamel and dentin formation: A review

Journal of Pharmacy and Bioallied Sciences, 2021
Calcium and phosphate are the major components of hydroxyapatite crystals that form the inorganic portion of the teeth. Apart from these, certain elements are present in little amounts in enamel and dentin of the human teeth.
Izaz Shaik, Bhargavi Dasari, Asma Shaik, Mina Doos, Hemanadh Kolli, Devyani Rana, Rahul V C Tiwari   +6 more
doaj   +1 more source

Developmental Defects of Enamel in Primary Teeth and Association with Early Life Course Events: A Study of 6--36 Month old Children in Manyara, Tanzania. [PDF]

, 2013
Children with low birth weight show an increased prevalence of developmental defects of enamel in the primary dentition that subsequently may predispose to early childhood caries (ECC).Focusing 6--36 months old, the purpose of this study was to assess ...
A review of the developmental defects of enamel index (DDE Index), AF Oliveira, AG Targino, AJ Casanova-Rosado, AJ Rugg-Gunn, AM Chaves, Anne Nordrehaug Åstrøm, AR Mohamed, Asgeir Bårdsen, F Vargas-Ferreira, GW Suckling, HL Needleman, International Food Policy Research Institute (IFPRI), JA Schellenberg, JJ Warren, JR Pinho, L Aine, L Hong, L Pascoe, M Matee, MA Vello, MJ Robles, NB Pitts, P Correa-Faria, R Masumo, Ray Masumo, RH Hoffmann, RL Slayton, RP Guergolette, S Nelson, SE Lunardelli, SE Lunardelli, TW Cutress, United Republic of Tanzania, VR Cruvinel, WK Seow, WK Seow, World Health Organization (WHO), Y Li, Y Zhou   +39 more
core   +4 more sources

Amelogenesis Imperfecta caused by N-Terminal Enamelin Point Mutations in Mice and Men is driven by Endoplasmic Reticulum Stress [PDF]

, 2017
‘Amelogenesis imperfecta’ (AI) describes a group of inherited diseases of dental enamel that have major clinical impact. Here, we identify the aetiology driving AI in mice carrying a p.S55I mutation in enamelin; one of the most commonly mutated proteins ...
Alan J. Mighell, Backman, Barron, Bartlett, Betts, Brookes, Brookes, Catriona J. Brown, Cawley, Chan, Chiti, Chris F. Inglehearn, Claire E.L. Smith, Coffield, Cui, Datta, DePristo, Dong, El-Sayed, Ellisdon, Gutierrez, Hart, Helen Rodd, Hetz, Hetz, Hu, Hu, Hu, James A. Poulter, Jennifer Kirkham, Kall, Kang, Kida, Kim, Kim, Lamkanfi, Lindemeyer, Lyngstadaas, Mardh, Martin J. Barron, Masuya, McKenna, Merksamer, Michael J. Dixon, Nanci, Ozcan, Ozdemir, Paediatric Formulary Committee, Parry, Parry, Poulter, Rajpar, Schroder, Sherry, Simmer, Smith, Southwood, Stephanopoulos, Steven J. Brookes   +58 more
core   +1 more source

Multiple Calcium Export Exchangers and Pumps Are a Prominent Feature of Enamel Organ Cells

Frontiers in Physiology, 2017
Calcium export is a key function for the enamel organ during all stages of amelogenesis. Expression of a number of ATPase calcium transporting, plasma membrane genes (ATP2B1-4/PMCA1-4), solute carrier SLC8A genes (sodium/calcium exchanger or NCX1-3), and
Sarah Y. T. Robertson, Xin Wen, Kaifeng Yin, Junjun Chen, Junjun Chen, Junjun Chen, Charles E. Smith, Michael L. Paine   +7 more
doaj   +1 more source

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta [PDF]

, 2016
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 transport and controlled changes to the developing enamel matrix pH.
Adzhubei, Akihiro Harada, Alan J. Mighell, Barron, Brookes, Chihiro Mogi, Chris F. Inglehearn, Claire E.L. Smith, Clare V. Logan, Colin A. Johnson, Consortium, Czech, Damkier, David A. Parry, de Vallière, El-Sayed, Figen Seymen, Frick, Fumikazu Okajima, Garant, Gawenis, Halse, Hart, Honda, Hong Zhang, Hussain Jafri, James A. Poulter, James P. Simmer, Jan C.-C. Hu, Josephsen, Kim, Kim, Kim, Koichi Sato, Lacruz, Lagerström, Lathrop, Lu, Ludwig, Lyaruu, Mine Koruyucu, Mohebbi, Mushtaq Ahmed, Møinichen, Nakakura, O’Sullivan, Parry, Parry, Pereverzev, Poulter, Poulter, Poulter, Prasad, Rajpar, Robinson, Roger C. Shore, Sasaki, Sasaki, Sasaki, Simmer, Smith, Smith, Smith, Takagi, Tomura, Tomura, Walid El-Sayed, Wang, Yang, Yuen   +69 more
core   +2 more sources

Abnormalities in enamel structure and their association with systemic diseases and syndromes [PDF]

, 2011
Etiology of abnormalities in tooth structure has been subject of numerous studies but still has not been fully understood. Heredity is an established etiological factor for many types of structural anomalies of the teeth. Factors that cause changes in
Babić Marko, Jeremić Marko, Jokanović Vukoman, Marković Dejan, Vuković Ana   +4 more
core   +1 more source

Estrogen-deficiency Effect on the Composition of Dental Enamel: A Pilot Study

Scientific Dental Journal, 2021
Background: Tooth enamel mineralization is assumed to be a target of endogenous estrogen imbalances. Objective: To evaluate the effect of estrogen deficiency during amelogenesis on the mineral composition of dental enamel.
Gustavo V de Oliveira Fernandes, Erika C Küchler, Marjorie A Omori, Guido A Marañón-Vasquez, Lucas R Teixeira, Jorge E Léon, Celia M C de França Lopes, Flares Baratto-Filho, Paulo Nelson-Filho, Raquel F Gerlach, Isabela R Madalena   +10 more
doaj   +1 more source

Intravesicular Phosphatase PHOSPHO1 Function in Enamel Mineralization and Prism Formation

Frontiers in Physiology, 2017
The transport of mineral ions from the enamel organ-associated blood vessels to the developing enamel crystals involves complex cargo packaging and carriage mechanisms across several cell layers, including the ameloblast layer and the stratum intermedium.
Mirali Pandya, Mirali Pandya, Lauren Rosene, Lauren Rosene, Colin Farquharson, José L. Millán, Thomas G. H. Diekwisch, Thomas G. H. Diekwisch   +7 more
doaj   +1 more source

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta [PDF]

, 2014
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN) is the second most abundant enamel matrix protein expressed during amelogenesis.
Brookes, SJ, Inglehearn, CF, Kirkham, J, Mighell, AJ, Murillo, G, Parry, DA, Poulter, JA, Silva, S, Smith, CEL   +8 more
core   +1 more source