Associated Papers
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
Obiezu F et al.
Jbmr Plus, 2025
Key Interaction Changes Determine the Activation Process of Human Parathyroid Hormone Type 1 Receptor.
Zhang Y et al.
Journal of the American Chemical Society, 2025
Human diseases caused by homozygous PTH1R mutations.
Portales-Castillo I et al.
Frontiers in Endocrinology, 2025
Ocular findings in Jansen metaphyseal chondrodysplasia.
Obiezu F et al.
Jbmr Plus, 2024
Missense3D-TM: Predicting the Effect of Missense Variants in Helical Transmembrane Protein Regions Using 3D Protein Structures.
Hanna G et al.
Journal of Molecular Biology, 2024
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
Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?
Gabbett MT et al.
American Journal of Medical Genetics. Part A, 2020
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
Saito H et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.
Nampoothiri S et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
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
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Savoldi G et al.
American Journal of Medical Genetics. Part A, 2013
A new form or a variant of SMD type A4.
Marik I et al.
Journal of Applied Genetics, 2012
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Characterization of the molecular motions of constitutively active G protein-coupled receptors for parathyroid hormone.
Rölz C et al.
Biophysical Chemistry, 2001
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0