keyword
MENU ▼
Read by QxMD icon Read
search

amelogenesis imperfecta

keyword
https://www.readbyqxmd.com/read/29745813/pleiotropic-function-of-dlx3-in-amelogenesis-from-regulating-ph-and-keratin-expression-to-controlling-enamel-rod-decussation
#1
Olivier Duverger, Maria I Morasso
DLX3 is essential for tooth enamel development and is so far the only transcription factor known to be mutated in a syndromic form of amelogenesis imperfecta. Through conditional deletion of Dlx3 in the dental epithelium in mouse, we have previously established the involvement of DLX3 in enamel pH regulation, as well as in controlling the expression of sets of keratins that contribute to enamel rod sheath formation. Here, we show that the decussation pattern of enamel rods was lost in conditional knockout animals, suggesting that DLX3 controls the coordinated migration of ameloblasts during enamel secretion...
December 2018: Connective Tissue Research
https://www.readbyqxmd.com/read/29678785/integrin-%C3%AE-v%C3%AE-6-structure-function-and-role-in-health-and-disease
#2
REVIEW
Leeni Koivisto, Jiarui Bi, Lari Häkkinen, Hannu Larjava
Integrins are cell surface receptors that traditionally mediate cell-to-extracellular matrix and cell-to-cell adhesion. They can, however, also bind a large repertoire of other molecules. Integrin αvβ6 is exclusively expressed in epithelial cells where it can, for example, serve as a fibronectin receptor. However, its hallmark function is to activate transforming growth factor-β1 (TGF-β1) to modulate innate immune surveillance in lungs and skin and along the gastrointestinal tract, and to maintain epithelial stem cell quiescence...
April 17, 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29676651/immunohistochemical-localization-of-fam83h-during-fluorosis-induced-mouse-molar-development
#3
Guanghui Shi, Yanyan Zhou, Jing Guo, Zhongrui Yang, Yang Lu, Yaling Song, Jie Jia
The clinical and pathological features of fluorosis are similar to amelogenesis imperfecta (AI) caused by FAM83H mutations, suggesting that excess fluoride could have effects on the expression of Fam83h. Our previous study found that Fam83h was downregulated by fluorosis induction in ameloblasts; the purpose of this study was to underline the importance of understanding the relationship between fluoride administration and Fam83h expression in vivo. A total of 80 healthy female adult Kunming mice were randomly divided into control group or F group that induced the clinical features of fluorosis...
April 1, 2018: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/29672880/enamel-renal-syndrome-case-report
#4
Luiz Henrique Soares Torres, Sérgio Lins de-Azevedo-Vaz, Danielle Resende Camisasca Barroso, Daniela Nascimento Silva, Tânia Regina Grão Velloso, Liliana Aparecida Pimenta de Barros
AIMS: to describe a case in which dental changes were observed and investigation proceeded to consider Enamel-Renal-Syndrome (ERS), a rare disorder that associates amelogenesis imperfecta with nephrocalcinosis. CASE REPORT: an 11-year-old male patient upon intraoral examination revealed generalized gingival hyperplasia, a few teeth were absent clinically and the remaining ones were yellowish-brown in color. The enamel alterations were suggesting of amelogenesis imperfecta...
April 19, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29599599/diagnosis-treatment-planning-and-full-mouth-rehabilitation-in-a-case-of-amelogenesis-imperfecta
#5
Mayuri Naik, Siddharth Bansal
Amelogenesis imperfecta is a genetic condition affecting the teeth resulting in aberrations of the structure and clinical appearance of enamel. The treatment of amelogenesis imperfecta involves a multidisciplinary treatment approach requiring a comprehensive examination, diagnosis, and effective treatment planning strategy along with satisfaction of patient-related factors. The clinical case described here involves judicious involvement of different disciplines to formulate a treatment plan best suitable to confirm with the patient's needs and expectations, at the same time maintaining the integrity and harmony of associated hard and soft tissues...
January 2018: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29554435/hypoplastic-ai-with-highly-variable-expressivity-caused-by-enam-mutations
#6
M Koruyucu, J Kang, Y J Kim, F Seymen, Y Kasimoglu, Z H Lee, T J Shin, H K Hyun, Y J Kim, S H Lee, J C C Hu, J P Simmer, J W Kim
Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplastic grooves in some teeth...
March 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29512331/dentinogenesis-imperfecta-type-ii-genotype-and-phenotype-analyses-in-three-danish-families
#7
Kawther Taleb, Eva Lauridsen, Jette Daugaard-Jensen, Pekka Nieminen, Sven Kreiborg
BACKGROUND: Dentinogenesis imperfecta (DI) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, DI sufferers have a discolored and weakened dentition with an increased risk of fracture. The aims of this study were to assess genotype-phenotype findings in three families with DI-II with special reference to mutations in the DSPP gene and clinical, histological, and imaging manifestations. METHODS: Nine patients participated in the study (two from family A, four from family B, and three from family C)...
March 6, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29439260/nephrocalcinosis-in-amelogenesis-imperfecta-caused-by-the-fam20a-mutation
#8
Mine Koruyucu, Figen Seymen, Genco Gencay, Koray Gencay, Elif Bahar Tuna, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Jung-Wook Kim
BACKGROUND/AIMS: Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis. METHODS: Complete oral and radiological examinations were performed for all participating family members...
February 13, 2018: Nephron
https://www.readbyqxmd.com/read/29421294/jalili-syndrome-cross-sectional-and-longitudinal-features-of-seven-patients-with-cone-rod-dystrophy-and-amelogenesis-imperfecta
#9
Nashila Hirji, Patrick D Bradley, Shuning Li, Ajoy Vincent, Mark E Pennesi, Akshay S Thomas, Elise Heon, Aparna Bhan, Omar A Mahroo, Anthony Robson, Chris F Inglehearn, Anthony T Moore, Michel Michaelides
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. METHODS: Seven patients from 6 families with Jalili Syndrome were identified at 3 tertiary referral centers. We systematically reviewed their available medical records, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging (FAF), color fundus photography, and electrophysiological assessments...
April 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29397320/deciphering-defective-amelogenesis-using-in-vitro-culture-systems
#10
Dian Yosi Arinawati, Keiko Miyoshi, Ayako Tanimura, Taigo Horiguchi, Hiroko Hagita, Takafumi Noma
The conventional two-dimensional (2D) in vitro culture system is frequently used to analyze the gene expression with or without extracellular signals. However, the cells derived from primary culture and cell lines frequently deviate the gene expression profile compared to the corresponding in vivo samples, which sometimes misleads the actual gene regulation in vivo. To overcome this gap, we developed the comparative 2D and 3D in vitro culture systems and applied them to the genetic study of amelogenesis imperfecta (AI) as a model...
April 2018: Journal of Bioscience and Bioengineering
https://www.readbyqxmd.com/read/29377372/restorative-treatment-in-patients-with-amelogenesis-imperfecta-a-review
#11
REVIEW
Susanne Strauch, Sebastian Hahnel
PURPOSE: To summarize the contemporary scientific evidence available regarding restorative dental treatment in patients with Amelogenesis imperfecta (AI). METHODS: An electronic literature search was conducted using the search term "Amelogenesis imperfecta" and the PubMed/MEDLINE database as well as Google Scholar. Prospective and retrospective clinical studies that investigated the outcome of direct and/or indirect dental restorative treatment in patients with AI, were published in English, and had an observation time of at least 1 year were included in this review...
January 29, 2018: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/29275170/complete-rehabilitation-of-compromised-full-dentitions-with-adhesively-bonded-all-ceramic-single-tooth-restorations-long-term-outcome-in-patients-with-and-without-amelogenesis-imperfecta
#12
Andrea Klink, Martin Groten, Fabian Huettig
OBJECTIVES: This clinical follow-up evaluated the long-term outcome of full-mouth rehabilitations with adhesively bonded all-ceramic restorations in patients suffering from amelogenesis imperfecta (AI) or affected by extensive tooth wear including a loss of the vertical dimension of occlusion. MATERIALS AND METHODS: Included for evaluation were all patients treated with adhesively bonded monolithic single-tooth restorations made of silicate or lithium disilicate ceramics; allowing a maximum four missing teeth and a facial feldspathic veneering of LDS anterior crowns...
March 2018: Journal of Dentistry
https://www.readbyqxmd.com/read/29201383/an-autosomal-recessive-mutation-in-scl24a4-causing-enamel-hypoplasia-in-samoyed-and-its-relationship-to-breed-wide-genetic-diversity
#13
Niels C Pedersen, Bonnie Shope, Hongwei Liu
Background: Pure breeding of dogs has led to over 700 heritable disorders, of which almost 300 are Mendelian in nature. Seventy percent of the characterized mutations have an autosomal recessive mode of inheritance, indicative of positive selection during bouts of inbreeding primarily for new desired conformational traits. Samoyed suffer from several common complex genetic disorders, but up to this time only two X-linked and one autosomal dominant disorder have been identified. Previous studies based on pedigrees and SNP arrays have concluded that Samoyed breeders have done a good job in maintaining genetic diversity and avoiding excessive inbreeding...
2017: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/29153277/a-novel-rogdi-gene-mutation-is-associated-with-kohlschutter-tonz-syndrome
#14
Nalini Aswath, Sankar Narayanan Ramakrishnan, Nithya Teresa, Arvind Ramanathan
OBJECTIVE: Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS STUDY DESIGN: To confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the 11 exons of the ROGDI gene...
January 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29150638/the-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome-associated-gene-rogdi-encodes-a-novel-presynaptic-protein
#15
Donatus Riemann, Rebecca Wallrafen, Thomas Dresbach
Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and hence the pathogenic mechanisms underlying Kohlschütter-Tönz syndrome have remained elusive. Using immunofluorescence of rat cultured hippocampal neurons and brain sections we find that Rogdi is enriched at synaptic sites...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112236/amelogenesis-imperfecta-in-the-dentition-of-a-wild-chimpanzee
#16
Ian Towle, Joel D Irish, Isabelle De Groote
This report describes a case of amelogenesis imperfecta in the dentition of a female chimpanzee. Amelogenesis imperfecta is a group of rare genetic conditions that create severe enamel defects, which, although well researched in humans, has not yet been investigated in wild non-human primates.
April 2018: Journal of Medical Primatology
https://www.readbyqxmd.com/read/29023614/virtual-simulation-of-periodontal-surgery-including-presurgical-cad-cam-fabrication-of-tooth-colored-removable-splints-on-the-basis-of-cbct-data-a-case-report
#17
Jan-Frederik Güth, Ana Elisa Colle Kauling, Josef Schweiger, Jan Kühnisch, Michael Stimmelmayr
Innovative digital diagnostic, design, and manufacturing technologies combined with high-performance polymers offer new possibilities to facilitate complex interdisciplinary treatment procedures. This article reports on the interaction of different digital technologies, from presurgical digital simulation of periodontal surgery to final prosthodontic rehabilitation, in a case of amelogenesis imperfecta in a 17-year-old girl. The aim was to digitally determine the treatment outcome by three-dimensional simulation of the soft tissue removal and to create computer-aided design/computer-assisted manufacture tooth-colored splints before the clinical treatment...
November 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/28967409/conservative-anterior-treatment-with-cad-cam-technology-and-polymer-infiltrated-ceramic-for-a-child-with-amelogenesis-imperfecta-a-2-year-follow-up
#18
Rozalio Halal, Johnny Nohra, Hadi Akel
Amelogenesis imperfecta is a genetic disorder that affects the structure of enamel and consequently the function, esthetics, and psychology of young patients. Restoring the dentition of a child with minimal tooth preparation is achievable with polymer-infiltrated ceramics. The treatment of a 12-year-old child presenting with amelogenesis imperfecta is described. An in-office computer-aided design and computer-aided manufacturing (CAD-CAM) system and polymer-infiltrated ceramic blocks were used in a noninvasive procedure...
September 26, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28951722/the-unfolded-protein-response-in-amelogenesis-and-enamel-pathologies
#19
REVIEW
Steven J Brookes, Martin J Barron, Michael J Dixon, Jennifer Kirkham
During the secretory phase of their life-cycle, ameloblasts are highly specialized secretory cells whose role is to elaborate an extracellular matrix that ultimately confers both form and function to dental enamel, the most highly mineralized of all mammalian tissues. In common with many other "professional" secretory cells, ameloblasts employ the unfolded protein response (UPR) to help them cope with the large secretory cargo of extracellular matrix proteins transiting their ER (endoplasmic reticulum)/Golgi complex and so minimize ER stress...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28933802/invesigation-of-prevalence-of-dental-anomalies-by-using-digital-panoramic-radiographs
#20
Nebiha Hilal Bilge, Selin Yeşiltepe, Kübra Törenek Ağırman, Fatma Çağlayan, Osman Murat Bilge
BACKGROUND: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6 to 40 year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted by analyzing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental anomalies were divided into five types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism); RESULTS: The prevalence of dental anomalies diagnosed by panoramic radiographs was 39...
September 21, 2017: Folia Morphologica (Warsz)
keyword
keyword
118073
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"