Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.P119L
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PTH1R

NM_000316.3:p.P119L

Associated Papers

Etiological Mechanisms and Genetic/Biological Modulation Related to PTH1R in Primary Failure of Tooth Eruption.

Li XX et al.

Calcified Tissue International, 2024

Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome.

Portales-Castillo I et al.

Communications Biology, 2023

Primary failure of tooth eruption: Etiology and management.

Yamaguchi T et al.

The Japanese Dental Science Review, 2022

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.

Portales-Castillo I et al.

Jbmr Plus, 2022

Functional Analysis of PTH1R Variants Found in Primary Failure of Eruption.

Izumida E et al.

Journal of Dental Research, 2020

A three-dimensional analysis of primary failure of eruption in humans and mice.

Tokavanich N et al.

Oral Diseases, 2020

Report of second case and clinical and molecular characterization of Eiken syndrome.

Moirangthem A et al.

Clinical Genetics, 2018

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.

Jelani M et al.

Archives of Oral Biology, 2016

Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene.

Pilz P et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2014

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.

Roth H et al.

Clinical Oral Investigations, 2014

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Risom L et al.

Plos One, 2013

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

Yamaguchi T et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011

Primary failure of eruption: From molecular diagnosis to therapeutic management.

Wagner D et al.

Journal of Oral Biology and Craniofacial Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."