Results 91 to 100 of about 12,368 (291)

Crucial Roles of microRNA-16-5p and microRNA-27b-3p in Ameloblast Differentiation Through Regulation of Genes Associated With Amelogenesis Imperfecta

Frontiers in Genetics, 2022
Amelogenesis imperfecta is a congenital disorder within a heterogeneous group of conditions characterized by enamel hypoplasia. Patients suffer from early tooth loss, social embarrassment, eating difficulties, and pain due to an abnormally thin, soft ...
Akiko Suzuki, Akiko Suzuki, Hiroki Yoshioka, Hiroki Yoshioka, Teng Liu, Aania Gull, Aania Gull, Naina Singh, Thanh Le, Thanh Le, Zhongming Zhao, Zhongming Zhao, Zhongming Zhao, Junichi Iwata, Junichi Iwata, Junichi Iwata   +15 more
doaj   +1 more source

The Na+/Ca2+, K+ exchanger NCKX4 is required for efficient cone-mediated vision [PDF]

, 2017
Calcium (Ca2+) plays an important role in the function and health of neurons. In vertebrate cone photoreceptors, Ca2+ controls photoresponse sensitivity, kinetics, and light adaptation.
Arden, Bauer, Baylor, Berridge, Bronckers, Bronckers, Calvert, Corbo, Dizhoor, Fain, Gorczyca, Herzog, Hu, Hughes, Ingram, Jalloul, Kang, Korenbrot, Lamason, Lamb, Le, Li, Li, Makino, Mattapallil, Matthews, Matveev, Mendez, Miller, Nakatani, Neuillé, Nikonov, Nikonov, Palczewski, Parry, Picones, Poetsch, Prieto, Prinsen, Pugh, Rebrik, Reiländer, Riazuddin, Sakurai, Sakurai, Sakurai, Sampath, Sampath, Schnetkamp, Schwarzer, Schwarzer, Seymen, Shichida, Shirato, Smith, Stephan, Sulem, Szél, Tachibanaki, Takemoto, Tomizuka, Tsoi, Vinberg, Vinberg, Vinberg, Wang, Wang, Winkler, Yau, Yau   +69 more
core   +2 more sources

Retrospective study of patients with amelogenesis imperfecta treated with different bonded restoration techniques

Clinical and Experimental Dental Research, 2019
The aim of this retrospective study was to evaluate clinical success and satisfaction of patients with amelogenesis imperfecta treated with three different types of bonded restorations at a university clinic.
Hanne G. Ohrvik, C. Hjortsjö
semanticscholar   +1 more source

Molecular Basis of Human Enamel Defects

Balkan Journal of Dental Medicine, 2014
During eruption of teeth in the oral cavity, the effect of gene variations and environmental factors can result in morphological and structural changes in teeth.
Chatzopoulos Georgios, Tziafas Dimitrios
doaj   +1 more source

Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta

Journal of Applied Oral Science, 2019
Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subtypes,
Daniela Adorno-Farias, A. Ortega‐Pinto, Paulina Gajardo, Ana Salazar, I. Morales-Bozo, Fabiola Werlinger, Sandra Rojas-Flores, A. Molina-Berríos, Sonia Echeverría-López, José Jara-Sandoval, L. Jara, B. Urzúa   +11 more
semanticscholar   +1 more source

Amelogénesis imperfecta tipo IE. a propósito de una familia afectada [PDF]

, 2016
En este artículo se revisa el concepto de Amelogénesis imperfecta a propósito de una familia afectada de Amelogénesis imperfecta tipo lE, según la clasificación de WITKOP.
Chimenos Küstner, Eduardo, Ferre Jorge, J., López López, José, 1958-, Roselló Llabrés, Xavier   +3 more
core  

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

The energetic basis for hydroxyapatite mineralization by amelogenin variants provides insights into the origin of amelogenesis imperfecta

Proceedings of the National Academy of Sciences of the United States of America, 2019
Significance Protein binding is important to many biological processes such as biomineralization, cell signaling, and enzyme interactions. We found that protein binding is key in explaining how single amino acid changes in amelogenin can lead to adverse ...
Jinhui Tao, Y. Shin, Rajith Jayasinha, G. W. Buchko, S. Burton, A. Dohnalkova, Zhemin Wang, W. Shaw, B. Tarasevich   +8 more
semanticscholar   +1 more source

Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

Clinical Genetics, Volume 107, Issue 6, Page 705-707, June 2025.
We characterized a novel ROGDI variant (NM_024589.3:c.646‐2A>G) identified in a family case of Kohlschütter‐Tönz Syndrome. This variant disrupts a canonical acceptor splice site, in intron 8. By combining RT‐PCR and targeted long‐read cDNA sequencing.
Miriam Essid, Sana Karoui, Mouna Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, Safa Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaetan Lesca, Nicolas Chatron   +17 more
wiley   +1 more source

Circadian rhythms regulate amelogenesis [PDF]

Bone, 2013
Ameloblasts, the cells responsible for making enamel, modify their morphological features in response to specialized functions necessary for synchronized ameloblast differentiation and enamel formation. Secretory and maturation ameloblasts are characterized by the expression of stage-specific genes which follows strictly controlled repetitive patterns.
Hidemitsu Harada, Silvana Papagerakis, Márcio Mourão, Petros Papagerakis, Yoon Ji Seon, Santiago Schnell, Li Zheng, Doohak Kim   +7 more
openaire   +3 more sources