Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.G452E
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PTH1R

NM_000316.3:p.G452E

Associated Papers

A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathway.

Lu K et al.

Progress in Orthodontics, 2025

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

Li XX et al.

Calcified Tissue International, 2024

Identification of a novel PTH1R variant in a family with primary failure of eruption.

Zha Y et al.

Bmc Oral Health, 2023

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

Portales-Castillo I et al.

Communications Biology, 2023

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

Portales-Castillo I et al.

Jbmr Plus, 2022

PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling.

Subramanian H et al.

Plos One, 2016

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

Roth H et al.

Clinical Oral Investigations, 2014

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."