Associated Papers
A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.
Monahan G et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
The evolution of hominin bipedalism in two steps.
Senevirathne G et al.
Nature, 2025
A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.
Höppner J et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" PTH1R Mice with the H223R Mutation of Jansen's Disease.
Reyes M et al.
Jbmr Plus, 2023
Primary failure of tooth eruption: Etiology and management.
Yamaguchi T et al.
The Japanese Dental Science Review, 2022
Genetic causes of neonatal and infantile hypercalcaemia.
Gorvin CM
Pediatric Nephrology (berlin, Germany), 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
Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report.
Khan R et al.
Pediatric Neurosurgery, 2017
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Severe neonatal spondylometaphyseal dysplasia in two siblings.
Czarny-Ratajczak M et al.
American Journal of Medical Genetics. Part A, 2009
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0