Results 41 to 50 of about 10,658 (245)

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta [PDF]

, 2018
Purpose: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as “Jalili Syndrome.” Design: Retrospective observational case series.
Agarwal, Aldred, Aleman, Bailleul-Forestier, Cherkaoui Jaouad, Downey, Gerth-Kahlert, Jalili, Jalili, Kylstra, Luder, Meyer, Michaelides, Michaelides, Nair, Parry, Polok, Rahimi-Aliabadi, Rajpar, Smith   +19 more
core   +3 more sources

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado, Rayssa Maria Soalheiro de Souza, Gabriella Guerra Freire Gabrich Fonseca, Kamila Rodrigues Junqueira Carvalho, Anna Vitória Mendes Viana Silva, Iasmin Fonseca Tolentino Mascarenhas, Beatriz Rezende Bergo, Hanna Larissa Barbosa Soares, Bárbara Mendes de Jesus, Layanne Ribeiro Ferreira e Sobral, Kélisson Duarte Reis, Késia Lara dos Santos Marques, Fabiana Sodré de Oliveira, Daniella Reis Barbosa Martelli, José Alcides Almeida de Arruda, Benjamin P. J. Fournier, Denise Vieira Travassos, Soraia Macari, Célia Regina Moreira Lanza, Ana Cristina Borges‐Oliveira, Hercílio Martelli‐Júnior, Tarcília Aparecida Silva   +21 more
wiley   +1 more source

Epithelial‐specific knockout of the Rac1 gene leads to enamel defects [PDF]

, 2011
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90135/1/j.1600-0722.2011.00904.x ...
Albertinazzi, Bei, Biz, Boyde, Castilho, Cerny, Chrostek, Couwenhoven, Cutroneo, DeMali, Filipenko, Fincham, Fukumoto, Fukumoto, Fukumoto, Gibson, Gibson, Glogauer, Hart, Hart, Hatakeyama, Huang, Hunter, Jernvall, Krebsbach, Li, Li, Liu, Nishikawa, Noritake, Paine, Rajpar, Reith, Snead, Snead, Sugihara, Thesleff, Thomas, Vidali, Wright, Xu   +40 more
core   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +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

Prevalence and distribution of selected dental anomalies among saudi children in Abha, Saudi Arabia [PDF]

, 2016
Dental anomalies are not an unusual finding in routine dental examination. The effect of dental anomalies can lead to functional, esthetic and occlusal problems.
Yassin, Syed M.
core   +1 more source

Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study [PDF]

, 2015
Objectives: The aim of the present study was to analyse the mineralization pattern of enamel and dentin in patients affected by X-linked hypophosphatemic rickets (XLHR) using micro-CT (µCT), and to associate enamel and dentin mineralization in primary ...
Costa, F. W. G., Fonteles, C. S. R., Ribeiro, T. R., Soares, E. C. S., Williams, J. R., Jr.   +4 more
core   +1 more source

Periodontal and orthodontic management of impacted canines

Periodontology 2000, EarlyView.
Abstract The maxillary and mandibular canines are described by many clinicians as the “cornerstone” of the arch. When in their optimal position, they play a critical role in providing a well‐balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance.
Mohammad Qali, Chenshuang Li, Chun‐Hsi Chung, Nipul Tanna   +3 more
wiley   +1 more source

Amelogenesis imperfecta: an introduction [PDF]

British Dental Journal, 2012
Amelogenesis imperfecta (AI) is an inherited disorder that is associated with mutations in five genes (AMEL; ENAM; MMP20; KLK4 and FAM83H) with a wide range of clinical presentations (phenotypes). It affects the structure and appearance of enamel of all teeth, both in the primary and secondary dentition.
K, Gadhia, S, McDonald, N, Arkutu, K, Malik   +3 more
openaire   +2 more sources