Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese-Reference-Cited by-同舟云学术

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Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese

Published:2011-06-21 Issue:7 Volume:26 Page:1655-1661
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Yamaguchi Tetsutaro,Hosomichi Kazuyoshi,Narita Akira,Shirota Tatsuo,Tomoyasu Yoko,Maki Koutaro,Inoue Ituro

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.385/fullpdf

Reference33 articles.

1. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;Proc Natl Acad Sci USA.,2009

2. Targeted capture and massively parallel sequencing of 12 human exomes;Ng;Nature.,2009

3. Exome sequencing identifies the cause of a mendelian disorder;Ng;Nat Genet.,2010

4. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82;Walsh;Am J Hum Genet.,2010

5. The clinical features and aetiological basis of primary eruption failure;Ahmad;Eur J Orthod.,2006

Cited by 54 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Etiological Mechanisms and Genetic/Biological Modulation Related to PTH1R in Primary Failure of Tooth Eruption;Calcified Tissue International;2024-06-04

2. TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis;International Journal of Molecular Sciences;2024-02-29

3. In-Silico Analysis of the High-Risk Missense Variants in PTH1R Gene and Association with Primary Failure of Tooth Eruption (PFE);Lecture Notes in Networks and Systems;2024

4. Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance;Molecular Genetics & Genomic Medicine;2023-10-16

5. Substantially Delayed Maturation of Growth Plate Chondrocytes in “Humanized” PTH1R Mice with the H223R Mutation of Jansen's Disease;JBMR Plus;2023-08-15

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