Novel Mutations in PTH1R Associated with Primary Failure of Eruption and Osteoarthritis
نویسندگان
چکیده
منابع مشابه
Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption
Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore cl...
متن کاملPTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling
AIM Primary failure of tooth eruption (PFE) is causally linked to heterozygous mutations of the parathyroid hormone receptor (PTH1R) gene. The mutants described so far lead to exchange of amino acids or truncation of the protein that may result in structural changes of the expressed PTH1R. However, functional effects of these mutations have not been investigated yet. MATERIALS AND METHODS In ...
متن کاملPrimary failure of eruption (PFE).
Department of Orthodontics, People’s College of Dental Sciences and Research Centre, Bhopal, Madhya Pradesh, India Department of Orthodontics, People’s Dental Academy, Bhopal, Madhya Pradesh, India Department of Orthodontics, SJM Medical College & Hospital, Chitradurga, Karnataka, India Department of Orthodontics, Rishiraj College of Dental Sciences & Research Centre, Bhopal, Madhya Pradesh, India
متن کاملFirst Primary Tooth Eruption and its Relationship with Birth Weight
Background and purpose: In this study we aimed to identify the association between birth weight and first primary tooth eruption. Materials and methods: This retrospective cohort study was done in infants attending for 12 and 18 months vaccination in Qaemshahr health centers. Multi-stage cluster sampling was performed. Information, including birth weight, height, and head circumference were ex...
متن کاملPTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Tooth eruption is a complex developmental process requiring coordinated navigation through alveolar bone and oral epithelium. Primary failure of tooth eruption (PFE) is associated with several syndromes primarily affecting skeletal development, but it is also known as a nonsyndromic autosomal-dominant condition. Teeth in the posterior quadrants of the upper and lower jaw are preferentially affe...
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ژورنال
عنوان ژورنال: Journal of Dental Research
سال: 2013
ISSN: 0022-0345,1544-0591
DOI: 10.1177/0022034513513588