Results 31 to 40 of about 3,771 (192)

Phenotypic characterization of amelogenesis imperfecta-nephrocalcinosis syndrome: a review

Duazary, 2019
Amelogenesis Imperfecta (AI) is an alteration of the structure and appearance of dental enamel of genetic origin that can occur as an isolated or systemic defect.
Victor Simancas-Escorcia, Ariane Berdal, Antonio Díaz-Caballero   +2 more
doaj   +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

Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India

Dental Research Journal, 2013
Epidermolysis bullosa (EB) is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. Junctional variety of EB is also associated with enamel hypoplasia.
A P Javed, Prashanth Shenai, Laxmikanth Chatra, K M Veena, Prasanna Kumar Rao, Rachana Prabhu   +5 more
doaj   +1 more source

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

Amelogenesis imperfecta: A clinician′s challenge

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012
Defective enamel formation can be explained as defects occurring at the stages of enamel formation. Quantitative defects in matrix formation leads to hypoplastic form of amelogenesis imperfecta.
V Chamarthi, B R Varma, M Jayanthi
doaj   +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

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

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

WDR72 Is Required for Urinary Acidification and Normal H+‐ATPase Activity in Intercalated Cells in Mice

Acta Physiologica, Volume 242, Issue 3, March 2026.
ABSTRACT Aim Biallelic inactivating WDR72 variants are linked to distal renal tubular acidosis (dRTA), nephrocalcinosis, and amelogenesis imperfecta. The kidney shows high WDR72 expression; its precise localization and function remain unclear. WDR72 is a member of the WD40 repeat domain protein family—a large group of scaffold proteins involved in ...
Hannah Auwerx, Moana Busch‐Dohr, Xiaoxu Li, Carsten A. Wagner, Soline Bourgeois   +4 more
wiley   +1 more source

FAM83H Regulates Postnatal T Cell Development Through Thymic Stroma Organization

European Journal of Immunology, Volume 56, Issue 1, January 2026.
Loss of the casein kinase 1 scaffolding protein FAM83H compromises bone marrow lymphopoiesis, reduces Foxn1 expression in cortical thymic epithelial cells (TEC), disrupts thymic architecture and TEC identity, and ultimately impairs double‐negative thymocyte proliferation and T‐cell production.
Betul Melike Ogan, Veronika Forstlova, Laura Jane Dowling, Michaela Simova, Kristina Vicikova, Vendula Novosadova, Frantisek Spoutil, Sylvie Cervenkova, Michaela Procházková, Jolana Tureckova, Olha Fedosieieva, Juraj Labaj, Petr Nickl, Kamila Krizova, Jan Prochazka, Radislav Sedlacek, Jana Balounova   +16 more
wiley   +1 more source