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Analyses of oligodontia phenotypes and genetic etiologies

International Journal of Oral Science 2021年第3期13卷 323-332页

作者： Mengqi Zhou Hong Zhang Heather Camhi Figen Seymen Mine Koruyucu Yelda Kasimoglu Jung-Wook Kim Hera Kim-Berman Ninna M.R.Yuson paul J.Benke Yiqun Wu Feng Wang Yaqin Zhu james p.simmer Jan C-C.Hu Dental Research Laboratory University of Michigan School of DentistryAnn ArborMIUSA Department of Second Dental Center Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineCollege of StomatologyShanghai Jiao Tong UniversityNational Center for StomatologyNational Clinical Research Center for Oral DiseasesShanghai Key Laboratory of StomatologyShanghaiChina Department of General Dentistry Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineCollege of StomatologyShanghai Jiao Tong UniversityNational Center for StomatologyNational Clinical Research Center for Oral DiseasesShanghai Key Laboratory of StomatologyShanghaiChina Orthodontic and pediatric Dentistry University of Michigan School of Dentistry1011N.University AveAnn ArborMIUSA Mott Children’s Health Center 806 Tuuri place FlintMIUSA Department of pedodontics Faculty of DentistryIstanbul UniversityIstanbulTurkey Department of Molecular Genetics&Dental Research Institute School of Dentistry Seoul National UniversitySeoulKorea Department of pediatric Dentistry&Dental Research Institute School of Dentistry Seoul National UniversitySeoulKorea Department of paediatric Dentistry Women’s and Children’s HospitalNorth AdelaideSAAustralia Department of Medical Genetics Joe DiMaggio Children’s HospitalHollywoodFLUSA Department of Oral Implantology Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineCollege of StomatologyShanghai Jiao Tong UniversityNational Center for StomatologyNational Clinical Research Center for Oral DiseasesShanghai Key Laboratory of StomatologyShanghaiChina

Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth *** genes have been implicated in the etiology of tooth agenesis,which is highly variable in its clinical *** purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia *** online systematic search of papers published from January 1992 to June 2021 identified 381 oligodontia cases meeting the eligibility criteria of causative gene mutation,phenotype description,and radiographic ***,ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence *** identified a novel mutation in WNT10A(c.99_105dup)and eight previously reported mutations in WNT10A(c.433 G>A;c.682 T>A;c.318 C>G;c.511.C>T;c.321 C>A),EDAR(c.581 C>T),and LRp6(c.1003 C>T,c.2747 G>T).Collectively,20 different causative genes were implicated among those 393 cases with *** each causative gene,the mean number of missing teeth per case and the frequency of teeth missing at each position were ***–phenotype correlation analysis indicated that molars agenesis is more likely linked to pAX9 mutations,mandibular first premolar agenesis is least associated with pAX9 mutations.

关键词： clinical congenital likely

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A post-classical theory of enamel biomineralization… and why we need one

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International Journal of Oral Science 2012年第3期4卷 129-134页

作者： james p.simmer Amelia S Richardson Yuan-Yuan Hu Charles E Smith Jan Ching-Chun Hu Department of Biologic and Materials Sciences School of Dentistry University of Michigan Ann Arbor USA Facility for Electron Microscopy Research Department of Anatomy and CellBiology and Faculty ofDentstry McGlIUniversity. Montreal Canada

Enamel crystals are unique in shape, orientation and organization. They are hundreds of thousands times longer than they are wide, run parallel to each other, are oriented with respect to the ameloblast membrane at the mineralization front and are organized into rod or interrod enamel. The classical theory of amelogenesis postulates that extracellular matrix proteins shape crystallites by specifically inhibiting ion deposition on the crystal sides, orient them by binding multiple crystallites and establish higher levels of crystal organization. Elements of the classical theory are supported in principle by in vitro studies; however, the classical theory does not explain how enamel forms in vivo. In this review, we describe how amelogenesis is highly integrated with ameloblast cell activities and how the shape, orientation and organization of enamel mineral ribbons are established by a mineralization front apparatus along the secretory surface of the ameloblast cell membrane.

关键词： ameloblastin amelogenin enamelin mineralization front tooth

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维普期刊数据库

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Meeting report:a hard look at the state of enamel research

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International Journal of Oral Science 2017年第4期9卷 193-199页

作者： ophir d klein olivier duverger wendy shaw rodrigo s lacruz derk joester janet moradian-oldak megan k pugach j timothy wright sarah e millar ashok b kulkarni john d bartlett thomas gh diekwisch pamela den besten james p.simmer program in craniofacial biology and department of orofacial sciences university of californiasan franciscoSan FranciscoUSA department of pediatrics and institute for human genetics university of californiasan franciscoSan FranciscoUSA laboratory of skin biology national institute of arthritis and muscular and skin diseasesnational institutes of healthBethesdaUSA physical science division pacific northwest national laboratoriesRichlandUSA department of basic science and craniofacial biology new york university college of dentistryNewYorkUSA department of materials science and engineering northwestern universityevanstonusaEvanstonUSA center for craniofacial molecular biology herman ostrow school of dentistryuniversity of southern californiaLos AngelesUSA the forsyth institute CambridgeUSA department of developmental biology harvard school of dental medicineBostonUSA department of pediatric dentistry university of north caroline school of dentistryChapel HillUSA departments of dermatology and cel&developmental biology perelman school of medicineand department of anatomy&cell biologyschool of dental medicineuniversity of pennsylvaniaPhiladelphiaUSA functional genomics section national institute of dental and craniofacial researchBethesdaUSA division of biosciences ohio state universitycollege of dentistryColumbusUSA department of periodontics and center for craniofacial research and diagnosis texas a&m university college of dentistryDallasUSA center for children’s oral health research and department of orofacial sciences university of californiasan franciscoSan FranciscoUSA biologic and materials sciences and division of prosthodontics university of michiganAnn ArborUSA

The Encouraging Novel Amelogenesis Models and Ex vivo cell Lines （ENAMEL） Development workshop was held on 23 June 2017 at the Bethesda headquarters of the National institute of Dental and Craniofacial Research （NIDCR）. Discussion topics included model organisms, stem cells/cell lines, and tissues/3D cell culture/organoids. Scientists from a number of disciplines, representing institutions from across the United States, gathered to discuss advances in our understanding of enamel, as well as future directions for the field.

关键词： enamel mineralized tissue mineralization ameloblast stem cell

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Fam83h亚细胞定位的研究

Fam83h亚细胞定位的研究

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中华口腔医学会全科口腔医学专业委员会第一次学术年会

作者：丁玉梅常婷黄政 james p.simmer JAN C-C HU 张汉东华中科技大学同济医学院附属协和医院口腔中心密歇根大学牙医学院

背景:常染色体显性钙化不全型釉质发育不全(ADHCAI)是最常见最严重的釉质发育不全(AI)。位于染色体8q24.3的Fam83h基因的变异会引起ADHCAI。目前已知AMELX,ENAM,MMp20和KLK4等四个基因的缺陷也会引起AI,它们均编码釉质基质蛋白。对背景...

背景:常染色体显性钙化不全型釉质发育不全(ADHCAI)是最常见最严重的釉质发育不全(AI)。位于染色体8q24.3的Fam83h基因的变异会引起ADHCAI。目前已知AMELX,ENAM,MMp20和KLK4等四个基因的缺陷也会引起AI,它们均编码釉质基质蛋白。对背景:常染色体显性钙化不全型釉质发育不全(ADHCAI)是最常见最严重的釉质发育不全(AI)。位于染色体8q24.3的Fam83h基因的变异会引起ADHCAI。目前已知AMELX,ENAM,MMp20和KLK4等四个基因的缺陷也会引起AI,它们均编码釉质基质蛋白。对

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