Results 61 to 70 of about 5,790 (215)

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.
Ahmed, Mushtaq, Simmer, JP, Logan, CV, El-Sayed, Walid, Poulter, JA, Sato, Koichi, Smith, Claire E. L., Sato, K, Inglehearn, Chris F., Mighell, AJ, Hu, JC-C, Parry, David A, Okajima, F, Okajima, Fumikazu, El-Sayed, W, Johnson, CA, Logan, Clare V, Mighell, Alan J., Smith, CEL, Mogi, C, Hu, Jan C. -C., Poulter, James A, Shore, Roger C., Hu, Jan C.-C., Koruyucu, M, Inglehearn, CF, Johnson, Colin A, Mogi, Chihiro, Smith, Claire E L, Mighell, Alan J, Koruyucu, Mine, Smith, Claire E.L., Shore, RC, Seymen, F, Simmer, James P, Parry, David A., Logan, Clare V., Harada, A, Seymen, Figen, Jafri, Hussain, Johnson, Colin A., Ahmed, M, Simmer, James P., Poulter, James A., Zhang, Hong, Hu, Jan C-C, Jafri, H, Inglehearn, Chris F, Parry, DA, Harada, Akihiro, Zhang, H, Shore, Roger C   +51 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

The role of WDR72 in amelogenesis [PDF]

, 2019
Amelogenesis undergoes two stages; first a secretory stage followed by a maturation stage. During maturation, ameloblasts secrete kallikrein-4 (KLK4) enamel protease responsible for extra-cellular matrix degradation leading to ions deposition and enamel ...
Husein, Dina R.
core  

Exonal Deletion of SLC24A4 Causes Hypomaturation Amelogenesis Imperfecta

, 2014
Amelogenesis imperfecta is a heterogeneous group of genetic conditions affecting enamel formation. Recently, mutations in solute carrier family 24 member 4 (SLC24A4) have been identified to cause autosomal recessive hypomaturation amelogenesis imperfecta.
Yıldırım, Mustafa Semih, Seymen, Figen, LEE, Z. H., LEE, K. -E., LE, C. G. Tran, KIM, J. -W., Gencay, K.   +6 more
core   +1 more source

Nanostructured Ti surfaces and retinoic acid/dexamethasone present a spatial framework for the maturation and amelogenesis of LS-8 cells

International Journal of Nanomedicine, 2018
Nan Jiang,1–3 Lu Chen,1–3 Qianli Ma,4,5 Jianping Ruan1–3 1Department of Preventive Dentistry, College of Stomatology, Xi’an JiaoTong University, Xi’an, People’s Republic of China; 2Key Laboratory of Shaanxi Province ...
Jiang N, Chen L, Ma QL, Ruan JP
doaj  

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

Community Dentistry and Oral Epidemiology, Volume 54, Issue 2, Page 163-173, April 2026.
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

Validating Dental Histology for Perinatal Age Estimation Using Human Deciduous Teeth

American Journal of Biological Anthropology, Volume 189, Issue 3, March 2026.
ABSTRACT Objectives This study tests the accuracy of dental histology for perinatal age estimation using deciduous teeth from modern human infants of known age. We evaluate whether enamel and dentin incremental structures, particularly the Neonatal Line (NNL), can be used to provide a reliable estimate of chronological age.
Ani Martirosyan, Javier Irurita, Assumpció Malgosa, Judit Molera, Patrick Mahoney, Xavier Jordana   +5 more
wiley   +1 more source

A pilot study of the genotype and phenotype in Amelogenesis Imperfecta and Molar Incisor Hypomineralization

, 2012
Background Enamel is an external layer of the crown, and its production can be affected by genetic, systemic or environmental causes Amelogenesis Imperfecta (AI) is an inherited defect of dental enamel, and can be autosomal dominant, recessive, x-linked ...
Abdullatif, MAA
core  

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.
Murillo, G, Brookes, SJ, Mighell, AJ, Smith, CEL, Parry, DA, Silva, S, Inglehearn, CF, Poulter, JA, Kirkham, J   +8 more
core   +1 more source

Optimizing Immunostaining of Enamel Matrix: Application of Sudan Black B and Minimization of False Positives from Normal Sera and IgGs

Frontiers in Physiology, 2017
Non-specific fluorescence from demineralized enamel matrix can significantly compromise the immunofluorescence studies and lead to false positives. Our goal was to assess degrees of non-specific binding under different conditions and try to optimize ...
Elia Beniash, Elia Beniash, Xu Yang, Alexander J. Vidunas   +3 more
doaj   +1 more source