Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption
作者： Lotte Risom , Line Christoffersen , Jette Daugaard-Jensen , Hanne Dahlgaard Hove , Henriette Skovgaard Andersen
DOI: 10.1371/JOURNAL.PONE.0074601
关键词:
摘要: … 50% confluence in six well plates and then transfected with WT … the physicochemical difference between Trp and Gly is quite … problem affected the pre-occlusal stage of eruption which is …
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Angelika Stellzig-Eisenhauer, Eva Decker, Philipp Meyer-Marcotty, Christiane Rau, Britta S. Fiebig, Wolfram Kress, Kathrin Saar, Franz Rüschendorf, Norbert Hubner, Tiemo Grimm, Emil Witt, Bernhard H. F. Weber, Primary Failure of Eruption (PFE) – Clinical and Molecular Genetics Analysis Journal of Orofacial Orthopedics-fortschritte Der Kieferorthopadie. ,vol. 71, pp. 6- 16 ,(2010) , 10.1007/S00056-010-0908-9
Sylvia A. Frazier-Bowers, Darrin Simmons, J. Timothy Wright, William R. Proffit, James L. Ackerman, Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning American Journal of Orthodontics and Dentofacial Orthopedics. ,vol. 137, ,(2010) , 10.1016/J.AJODO.2009.10.019
Jakomijn Hoogendam, Hetty Farih-Sips, Liliane C Wynaendts, CWGM Lowik, Jan M Wit, Marcel Karperien, None, Novel Mutations in the Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Type 1 Causing Blomstrand Osteochondrodysplasia Types I and II The Journal of Clinical Endocrinology and Metabolism. ,vol. 92, pp. 1088- 1095 ,(2007) , 10.1210/JC.2006-0300
Sylvia A. Frazier-Bowers, Chaitanya P. Puranik, Michael C. Mahaney, The Etiology of Eruption Disorders-Further Evidence of a "Genetic Paradigm" Seminars in Orthodontics. ,vol. 16, pp. 180- 185 ,(2010) , 10.1053/J.SODO.2010.05.003
Ping Zhang, Anne-Sixtine Jobert, Alain Couvineau, Carline Silve, A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. The Journal of Clinical Endocrinology and Metabolism. ,vol. 83, pp. 3365- 3368 ,(1998) , 10.1210/JCEM.83.9.5245
Sylvia A. Frazier-Bowers, Karen E. Koehler, James L. Ackerman, William R. Proffit, Primary failure of eruption: Further characterization of a rare eruption disorder American Journal of Orthodontics and Dentofacial Orthopedics. ,vol. 131, pp. 5- 8 ,(2007) , 10.1016/J.AJODO.2006.09.038
Sylvia A. Frazier-Bowers, Darrin Simmons, J. Timothy Wright, William R. Proffit, James L. Ackerman, Editor's Summary and Q&A: Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning American Journal of Orthodontics and Dentofacial Orthopedics. ,vol. 137, pp. 160- 161 ,(2010) , 10.1016/J.AJODO.2009.10.021
Tetsutaro Yamaguchi, Kazuyoshi Hosomichi, Akira Narita, Tatsuo Shirota, Yoko Tomoyasu, Koutaro Maki, Ituro Inoue, Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. Journal of Bone and Mineral Research. ,vol. 26, pp. 1655- 1661 ,(2011) , 10.1002/JBMR.385
Marcel Karperien, Hans J. van der Harten, Ron van Schooten, Hetty Farih-Sips, Nicolette S. den Hollander, Sander L. J. Kneppers, Peter Nijweide, Socrates E. Papapoulos, Clemens W. G. M. Löwik, A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. The Journal of Clinical Endocrinology and Metabolism. ,vol. 84, pp. 3713- 3720 ,(1999) , 10.1210/JCEM.84.10.6033
Gene Yeo, Christopher B. Burge, Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals Journal of Computational Biology. ,vol. 11, pp. 377- 394 ,(2004) , 10.1089/1066527041410418