Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.V365delFs
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PTH1R

NM_000316.3:p.V365delFs

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

Human diseases caused by homozygous PTH1R mutations.

Portales-Castillo I et al.

Frontiers in Endocrinology, 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

Primary failure of tooth eruption: Etiology and management.

Yamaguchi T et al.

The Japanese Dental Science Review, 2022

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

Moirangthem A et al.

Clinical Genetics, 2018

Primary failure of eruption: Clinical and genetic findings in the mixed dentition.

Grippaudo C et al.

The Angle Orthodontist, 2018

In silico and functional evaluation of PTH1R mutations found in patients with primary failure of eruption (PFE).

Hendricks HM et al.

Orthodontics & Craniofacial Research, 2017

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

Establishing the diagnostic criteria for eruption disorders based on genetic and clinical data.

Rhoads SG et al.

American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics, 2013

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

Risom L et al.

Plos One, 2013

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."