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amelogenesis imperfecta

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https://www.readbyqxmd.com/read/28814606/their-loss-is-our-gain-regressive-evolution-in-vertebrates-provides-genomic-models-for-uncovering-human-disease-loci
#1
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
#2
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
#3
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...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28729668/novel-fam83h-mutations-in-patients-with-amelogenesis-imperfecta
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28611678/a-fourth-klk4-mutation-is-associated-with-enamel-hypomineralisation-and-structural-abnormalities
#11
Claire E L Smith, Jennifer Kirkham, Peter F Day, Francesca Soldani, Esther J McDerra, James A Poulter, Christopher F Inglehearn, Alan J Mighell, Steven J Brookes
"Amelogenesis imperfecta" (AI) describes a group of genetic conditions that result in defects in tooth enamel formation. Mutations in many genes are known to cause AI, including the gene encoding the serine protease, kallikrein related peptidase 4 (KLK4), expressed during the maturation stage of amelogenesis. In this study we report the fourth KLK4 mutation to be identified in autosomal recessively-inherited hypomaturation type AI, c.632delT, p.(L211Rfs(*)37) (NM_004917.4, NP_004908.4). This homozygous variant was identified in five Pakistani AI families and is predicted to result in a transcript with a premature stop codon that escapes nonsense mediated decay...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28608463/effect-of-etching-on-bonding-of-a-self-etch-adhesive-to-dentine-affected-by-amelogenesis-imperfecta
#12
Don Jeevanie Epasinghe, Cynthia Kar Yung Yiu
AIM: Dentine affected by amelogenesis imperfecta (AI) is histologically altered due to loss of hypoplastic enamel and becomes hypermineralized. In the present study, we examined the effect of additional acid etching on microtensile bond strength of a self-etch adhesive to AI-affected dentine. METHODS: Flat coronal dentine obtained from extracted AI-affected and non-carious permanent molars were allocated to two groups: (a) Clearfil SE Bond (control); and (b) Clearfil SE Bond and additional etching with 34% phosphoric acid for 15 seconds...
June 13, 2017: Journal of Investigative and Clinical Dentistry
https://www.readbyqxmd.com/read/28596736/claudin-loss-of-function-disrupts-tight-junctions-and-impairs-amelogenesis
#13
Claire Bardet, Sandy Ribes, Yong Wu, Mamadou Tidiane Diallo, Benjamin Salmon, Tilman Breiderhoff, Pascal Houillier, Dominik Müller, Catherine Chaussain
Claudins are a family of proteins that forms paracellular barriers and pores determining tight junctions (TJ) permeability. Claudin-16 and -19 are pore forming TJ proteins allowing calcium and magnesium reabsorption in the thick ascending limb of Henle's loop (TAL). Loss-of-function mutations in the encoding genes, initially identified to cause Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), were recently shown to be also involved in Amelogenesis Imperfecta (AI). In addition, both claudins were expressed in the murine tooth germ and Claudin-16 knockout (KO) mice displayed abnormal enamel formation...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28586144/co-occurrence-of-jalili-syndrome-and-muscular-overgrowth
#14
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Rafal Ploski, Maciej R Krawczynski
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28553046/amelogenesis-imperfecta-with-distal-renal-tubular-acidosis-a-novel-syndrome
#15
R A Misgar, Z Hassan, A I Wani, M I Bashir
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA) have been described: two cases in adults and a solitary case in the pediatric age group...
May 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28515694/fam20a-gene-mutation-amelogenesis-or-ectopic-mineralization
#16
Guilhem Lignon, Fleur Beres, Mickael Quentric, Stephan Rouzière, Raphael Weil, Muriel De La Dure-Molla, Adrien Naveau, Renata Kozyraki, Arnaud Dessombz, Ariane Berdal
Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of enamel peptides and thus enamel mineralization. Here, we characterized the structure and chemical composition of unerupted tooth enamel from ERS patients and healthy subjects. Methods: Tooth sections were analyzed by Scanning Electron Microscopy (SEM), Energy Dispersive Spectroscopy (EDS), X-Ray Diffraction (XRD), and X-Ray Fluorescence (XRF)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28513613/defects-in-the-acid-phosphatase-acpt-cause-recessive-hypoplastic-amelogenesis-imperfecta
#17
Claire El Smith, Laura LE Whitehouse, James A Poulter, Steven J Brookes, Peter F Day, Francesca Soldani, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell
We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT is reported to play a role in odontoblast differentiation and mineralisation by supplying phosphate during dentine formation. Analysis by computerised tomography and scanning electron microscopy of a primary molar tooth from an individual homozygous for the c.746C>T variant revealed an enamel layer that was hypoplastic, but mineralised with prismatic architecture...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28475095/functional-and-esthetic-rehabilitation-of-a-child-with-amelogenesis-imperfecta-a-case-report
#18
Carmem Dolores Vilarinho Soares de Moura, Alessandra Silva Pontes, Teresinha Soares Pereira Lopes, Lúcia Fátima Almeida de Deus Moura, Marina Deus Moura de Lima
Amelogenesis imperfecta (AI) is a tooth disorder characterized by the abnormal development of the enamel in response to mutations in the genes involved in amelogenesis. The objective of this article is to present the clinical case of a child with AI in the primary dentition phase. A 4-year-old boy was presented to a clinic by his mother, who complained that her son's smile esthetics were compromised by "weak and yellow teeth." All the teeth showed yellowish discoloration as well as crumbling or missing enamel...
May 2017: General Dentistry
https://www.readbyqxmd.com/read/28473773/analyses-of-mmp20-missense-mutations-in-two-families-with-hypomaturation-amelogenesis-imperfecta
#19
Youn Jung Kim, Jenny Kang, Figen Seymen, Mine Koruyucu, Koray Gencay, Teo Jeon Shin, Hong-Keun Hyun, Zang Hee Lee, Jan C-C Hu, James P Simmer, Jung-Wook Kim
Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, quantitatively and/or qualitatively. The aim of this study was to identify the genetic etiologies of two families presenting with hypomaturation amelogenesis imperfecta. DNA was isolated from peripheral blood samples obtained from participating family members. Whole exome sequencing was performed using DNA samples from the two probands. Sequencing data was aligned to the NCBI human reference genome (NCBI build 37...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28432788/structure-of-fam20a-reveals-a-pseudokinase-featuring-a-unique-disulfide-pattern-and-inverted-atp-binding
#20
Jixin Cui, Qinyu Zhu, Hui Zhang, Michael A Cianfrocco, Andres E Leschziner, Jack E Dixon, Junyu Xiao
Mutations in FAM20A cause tooth enamel defects known as Amelogenesis Imperfecta (AI) and renal calcification. We previously showed that Fam20A is a secretory pathway pseudokinase and allosterically activates the physiological casein kinase Fam20C to phosphorylate secreted proteins important for biomineralization (Cui et al., 2015). Here we report the nucleotide-free and ATP-bound structures of Fam20A. Fam20A exhibits a distinct disulfide bond pattern mediated by a unique insertion region. Loss of this insertion due to abnormal mRNA splicing interferes with the structure and function of Fam20A, resulting in AI...
April 22, 2017: ELife
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