Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 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
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
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Demaret T et al.
Frontiers in Endocrinology, 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
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
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
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
Couvineau A et al.
Human Molecular Genetics, 2008
Rat wild-type parathyroid hormone receptor (PTH-R) and mutant PTH-R(P132L) show the different intracellular localization in vitro.
Shimomura-Kuroki J et al.
Biomedical Research (tokyo, Japan), 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.
Hoogendam J et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
A mutant PTH/PTHrP type I receptor in enchondromatosis.
Hopyan S et al.
Nature Genetics, 2002
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
Parathyroid hormone (PTH)/PTHrP receptor mutations in human chondrodysplasia.
Nissenson RA
Endocrinology, 1998
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
Zhang P et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0