keyword
MENU ▼
Read by QxMD icon Read
search

amelogenesis imperfecta

keyword
https://www.readbyqxmd.com/read/29153277/a-novel-rogdi-gene-mutation-is-associated-with-kohlschutter-tonz-syndrome
#1
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...
October 12, 2017: 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
#2
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
#3
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.
November 7, 2017: 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
#4
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
#5
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
#6
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
#7
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)
https://www.readbyqxmd.com/read/28904439/association-of-amelogenesis-imperfecta-and-bartter-s-syndrome
#8
A C V Kumar, V Alekya, M S V V Krishna, K Alekya, M Aruna, M H K Reddy, B Sangeetha, R Ram, V S Kumar
Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28872982/amelogenesis-imperfecta-a-non-invasive-approach-to-improve-esthetics-in-young-patients-report-of-two-cases
#9
Maria Grazia Cagetti, Stefano Cattaneo, Ye Qing Hu, Guglielmo Campus
Objective-Evaluate esthetic and functional efficacy of infiltrant resin (Icon, DMG, Hamburg, Germany) in Amelogenesis Imperfecta's treatment. STUDY DESIGN: Two adolescent patients, G.S. (13 years old) and C.M. (15 years old), affected by the hypomaturation type of Amelogenesis Imperfecta, were treated with Icon resin and were followed for twelve months. RESULTS: Treated teeth show an excellent aesthetical result immediately after the resin application, effect that lasts in the long-term (six and twelve months follow-up examinations); the dental wear's progression seems to be clinically arrested...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28829932/amelogenesis-imperfecta-case-study
#10
C Leevailoj, S Lawanrattanakul, K Mahatumarat
Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and that are passed down through families as a dominant trait. This condition is characterized by abnormal enamel formation caused by gene mutations that alter the quality and/or quantity of enamel. This dental problem can impact both primary and permanent dentition, varies among affected individuals, and results in esthetic and functional problems. This condition caused the patient in the current case report to have a lack of confidence when speaking...
September 2017: Operative Dentistry
https://www.readbyqxmd.com/read/28814606/their-loss-is-our-gain-regressive-evolution-in-vertebrates-provides-genomic-models-for-uncovering-human-disease-loci
#11
REVIEW
Christopher A Emerling, Andrew D Widjaja, Nancy N Nguyen, Mark S Springer
Throughout Earth's history, evolution's numerous natural 'experiments' have resulted in a diverse range of phenotypes. Though de novo phenotypes receive widespread attention, degeneration of traits inherited from an ancestor is a very common, yet frequently neglected, evolutionary path. The latter phenomenon, known as regressive evolution, often results in vertebrates with phenotypes that mimic inherited disease states in humans. Regressive evolution of anatomical and/or physiological traits is typically accompanied by inactivating mutations underlying these traits, which frequently occur at loci identical to those implicated in human diseases...
August 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771955/mineral-features-of-connective-dental-hard-tissues-in-hypoplastic-amelogenesis-imperfecta
#12
Rym Kammoun, Catherine Behets, Lamia Mansour, Sonia Ghoul-Mazgar
To explore the mineral features of dentin and cementum in hypoplastic AI teeth MATERIALS AND METHODS: Forty four (44) teeth cleaned and free of caries were used: 20 control and 24 affected by hypoplastic amelogenesis imperfecta. Thirty-two teeth were studied by pQCT, cut in sections and analysed under microradiography, polarized light microscopy and confocal Raman spectroscopy. Eight teeth were observed under scanning electron microscope. Four teeth were used for an X-ray diffraction. The mineral density data were analysed statistically with the Mann-Whitney U test, using GraphPad InStat Software RESULTS: Both coronal and radicular dentin were less mineralized in AI teeth when compared to control (respectively 6...
August 3, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28732182/stim1-regulates-enamel-mineralization-and-ameloblast-modulation
#13
Y Furukawa, N Haruyama, M Nikaido, M Nakanishi, N Ryu, M Oh-Hora, K Kuremoto, K Yoshizaki, Y Takano, I Takahashi
Loss-of-function mutations in the Ca(2+) release-activated Ca(2+) channel genes ORAI1 and STIM1 abolish store-operated Ca(2+) entry (SOCE) and result in ectodermal dysplasia with amelogenesis imperfecta. However, because of the limited availability of patient tissue, analyses of enamel mineralization or possible changes in ameloblast function or morphology have not been possible. Here, we generated mice with ectodermal tissue-specific deletion of Stim1 ( Stim1 cKO [conditional knockout]), Stim2 ( Stim2 cKO), and Stim1 and Stim2 ( Stim1/2 cKO) and analyzed their enamel phenotypes as compared with those of control ( Stim1/2(fl/fl)) animals...
November 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28729668/novel-fam83h-mutations-in-patients-with-amelogenesis-imperfecta
#14
Wang Xin, Wang Wenjun, Qin Man, Zhao Yuming
Amelogenesis imperfecta (AI), characterized by a deficiency in the quantity and/or quality of dental enamel, is genetically heterogeneous and phenotypically variable. The most severe type, hypocalcified AI, is mostly caused by truncating mutations in the FAM83H gene. This study aimed to identify genetic mutations in four Chinese families with hypocalcified AI. We performed mutation analysis by sequencing the candidate FAM83H gene. Three novel mutations (c.931dupC, p.V311Rfs*13; c.1130_1131delinsAA, p.S377X; and c...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28721667/molar-incisor-hypomineralisation-mih-training-manual-for-clinical-field-surveys-and-practice
#15
A Ghanim, M J Silva, M E C Elfrink, N A Lygidakis, R J Mariño, K L Weerheijm, D J Manton
BACKGROUND: Despite clear assessment criteria, studies of molar incisor hypomineralisation (MIH) and hypomineralised second primary molars (HSPM) are marked by inconsistency in outcome measurements. This has detracted from meaningful comparisons between studies and limited interpretation. AIM: To provide a comprehensive manual as a companion to assist researchers in planning epidemiological studies of MIH and HSPM, with particular reference to outcome measurement...
July 18, 2017: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28694781/amelogenesis-imperfecta-genes-proteins-and-pathways
#16
REVIEW
Claire E L Smith, James A Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J Brookes, Chris F Inglehearn, Alan J Mighell
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth loss, severe embarrassment, eating difficulties, and pain. It was first described separately from diseases of dentine nearly 80 years ago, but the underlying genetic and mechanistic basis of the condition is only now coming to light...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28683132/evolutionary-analysis-of-fam83h-in-vertebrates
#17
Wushuang Huang, Mei Yang, Changning Wang, Yaling Song
Amelogenesis imperfecta is a group of disorders causing abnormalities in enamel formation in various phenotypes. Many mutations in the FAM83H gene have been identified to result in autosomal dominant hypocalcified amelogenesis imperfecta in different populations. However, the structure and function of FAM83H and its pathological mechanism have yet to be further explored. Evolutionary analysis is an alternative for revealing residues or motifs that are important for protein function. In the present study, we chose 50 vertebrate species in public databases representative of approximately 230 million years of evolution, including 1 amphibian, 2 fishes, 7 sauropsidas and 40 mammals, and we performed evolutionary analysis on the FAM83H protein...
2017: PloS One
https://www.readbyqxmd.com/read/28680602/alternative-prosthodontic-based-treatment-of-a-patient-with-hypocalcified-type-amelogenesis-imperfecta
#18
Anca Jivanescu, Antonio Miglionico, Souman Barua, Simona Ioana Hategan
The Amelogenesis Imperfecta is associated with malocclusion and usually requires an interdisciplinary treatment. Due to the patient's refusal of orthodontic treatment, prosthodontics-based treatments alternative was considered and planned. The patient was treated with zirconia-based fixed partial dentures, which resulted in improved occlusion, better oral health, and improved esthetic appearance.
July 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28659819/evolutionary-analysis-predicts-sensitive-positions-of-mmp20-and-validates-newly-and-previously-identified-mmp20-mutations-causing-amelogenesis-imperfecta
#19
Barbara Gasse, Megana Prasad, Sidney Delgado, Mathilde Huckert, Marzena Kawczynski, Annelyse Garret-Bernardin, Serena Lopez-Cazaux, Isabelle Bailleul-Forestier, Marie-Cécile Manière, Corinne Stoetzel, Agnès Bloch-Zupan, Jean-Yves Sire
Amelogenesis imperfecta (AI) designates a group of genetic diseases characterized by a large range of enamel disorders causing important social and health problems. These defects can result from mutations in enamel matrix proteins or protease encoding genes. A range of mutations in the enamel cleavage enzyme matrix metalloproteinase-20 gene (MMP20) produce enamel defects of varying severity. To address how various alterations produce a range of AI phenotypes, we performed a targeted analysis to find MMP20 mutations in French patients diagnosed with non-syndromic AI...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28638151/the-crystal-structure-of-human-rogdi-provides-insight-into-the-causes-of-kohlschutter-t%C3%A3-nz-syndrome
#20
Hakbong Lee, Hanbin Jeong, Joonho Choe, Youngsoo Jun, Chunghun Lim, Changwook Lee
Kohlschutter-Tönz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. Rogdi, an essential protein, is highly conserved across metazoans, and mutations in Rogdi are linked to KTS. However, how certain mutations in Rogdi abolish its physiological functions and cause KTS is not known. In this study, we determined the crystal structure of human Rogdi protein at atomic resolution. Rogdi forms a novel elongated curved structure comprising the α domain, a leucine-zipper-like four-helix bundle, and a characteristic β-sheet domain...
June 21, 2017: Scientific Reports
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"