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| 1 | Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders显示文摘Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular,and cellular interactions. Ameloblastin(AMBN, also named 'amelin' or 'sheathlin') is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta(AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders.We recruited one kindred with autosomal-dominant amelogenesis imperfecta(ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders. | Ting Lu Meiyi Li Xiangmin Xu Jun Xiong Cheng Huang Xuelian Zhang Aiqin Hu Ling Peng Decheng Cai Leitao Zhang Buling Wu Fu Xiong | 2018 | International Journal of Oral Science2018，10，4： | 3 |
| 2 | Glucose oxidase-an overview显示文摘 | Bankar S B Bule M V Singhal R S | 2009 | Biotechnology Advances2009，27，4： | 1 |
| 3 | Glucose oxidase:an overview显示文摘 | Bankar S B Bule M V Singhal R S | 2009 | Biotechnology Advances2009，27，： | 1 |
| 4 | New data on epizootiology and genetics of piroplasms based on sequences of small ribosomal subunit and cytochrome b genes显示文摘 | Criado-Fornelio A Martinez J Buling A | 2006 | Vet Parasitol2006，142，： | 1 |
| 5 | A quantitative PCR assay for the detection and quantification of Babesia bovis and Babesia bigemina显示文摘 | Buling A Criado-Fomelio A Asenzo G | 2007 | Vet Parasitol2007，147，： | 1 |
| 6 | bigemina显示文摘 | Buling A Criado-Fomelio A Asenzo G et aL A quantitativePCR assay for the detection and quantification of Babesia bovisand B | 2007 | Vet Parasitol2007，2，： | 1 |
| 7 | Formation of chloroform and chlorinated organics by free-chlorine-mediated oxidation of triclosan显示文摘 | Bule K L Ebbett V R Vikesland P J | 2005 | Environ Sci Technol2005，39，9： | 1 |
| 8 | Biosynthesis of silver nanoparticles using aqueous extract from the compactin producing fungal strain显示文摘 | Shaligram N S Bule Mahesh Bhambure R | 2009 | Process Biochem2009，44，： | 1 |
| 9 | Structural and thermal characterization of wheat straw pretreated with aqueous ammonia soaking显示文摘 | Gao H Bule V Laskar D Chen S | 2012 | Journal of Agricultural and Food Chemistry2012，60，35： | 1 |
| 10 | Biofilm dispersal of community-associated methicillion-resistant staphylococcus aureus on orthopedic materiall显示文摘 | Laderale KJ Malone CL Bules BR | 2010 | J Orthop Res2010，28，1： | 1 |
| 11 | Optimization of A spergilh~s niger f~zmaentation ibr the production of glucose oxidasc显示文摘 | Bankar S B Bule M V Singhal R S | 2009 | Food Bioprocess Technoi2009，2，： | 1 |
| 12 | Glucose oxidase-an overview显示文摘 | Bankar S B Bule M V Singhal R S | 2009 | Biotechnology Advances2009，27，4： | 1 |
| 13 | Microencapsulation of ubiquinone-10 in carbohydrate matrices for improved stability显示文摘 | Bule MV Singhal RS Kennedy JF | 2010 | Carbohydr Polym2010，82，4： | 1 |
| 14 | Optimization of Aspergillus niger fermentation for the production of glucose oxidase显示文摘 | Bankar S B Bule M V Singhal R S | 2009 | Food and Bioprocess Technology2009，2，4： | 1 |
| 15 | Changes in Proliferation and Osteogenic Differentiation of Stem Cells from Deep Caries In Vitro显示文摘 | Dandan Ma Jie Gao Jing Yue Wenjuan Yan Fuchun Fang Buling Wu | 2012 | Journal of Endodontics2012，，6： | 1 |
| 16 | Glucose oxidase: an overview显示文摘 | BANKAR B S BULE M V SINGHAL R S | 2009 | Bioteehnology Advances2009，27，4： | 1 |
| 17 | Activation of a Caspase 3- related cysteine protease is required for glutamate - mediated apoptosis of cultured cerebellar granule neurons显示文摘 | Du Y Bules KB Dodel RC | 1997 | Neurobiology1997，94，11： | 1 |
| 18 | Glucose oxidase-An overview显示文摘 | Sandip B Bankar Mahesh V Bule Rekha S Singhal | 2009 | Biotechnology Advances2009，27，： | 1 |
| 19 | The Use of Constructed Wetland for Landfill Leachate Treatment 显示文摘 | Bule T Vrhovsek D Kukanja V | 1997 | Water Science and Technology1997，35，5： | 1 |
| 20 | Glucose oxidase-An overview显示文摘 | BANKAR SB BULE MV SINGHAL RS | 2009 | Biotechnology Advances2009，，27： | 1 |
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