A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia¹

Rapid and efficient site-specific mutagenesis without phenotypic selection.

1985 • 7,573 citations

PTH/PTHrP Receptor in Early Development and Indian Hedgehog—Regulated Bone Growth

1996 • 1,303 citations

Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.

1994 • 1,138 citations

Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases intracellular free calcium.

1992 • 1,009 citations

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

1993 • 747 citations

A Constitutively Active Mutant PTH-PTHrP Receptor in Jansen-Type Metaphyseal Chondrodysplasia

1995 • 668 citations

Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.

1996 • 471 citations

Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide

1997 • 360 citations

Vitamin D. Basic Research and its Clinical Application

1979 • 318 citations

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

1998 • 315 citations

Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia

1996 • 293 citations

Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca2+ cascades.

1995 • 234 citations

Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor.

1993 • 193 citations

Inactivating Mutation in the Human Parathyroid Hormone Receptor Type 1 Gene in Blomstrand Chondrodysplasia

1998 • 180 citations

A Homozygous Inactivating Mutation in the Parathyroid Hormone/Parathyroid Hormone-Related Peptide Receptor Causing Blomstrand Chondrodysplasia

1998 • 166 citations

Mutations in G proteins and G protein-coupled receptors in endocrine disease.

1996 • 141 citations

Mutations in the Second Cytoplasmic Loop of the Rat Parathyroid Hormone (PTH)/PTH-related Protein Receptor Result in Selective Loss of PTH-stimulated Phospholipase C Activity

1997 • 132 citations

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.

1995 • 110 citations

Abnormalities in serum osteocalcin values in children with chronic rheumatic diseases

1990 • 96 citations

Residues in the Membrane-spanning and Extracellular Loop Regions of the Parathyroid Hormone (PTH)-2 Receptor Determine Signaling Selectivity for PTH and PTH-related Peptide

1997 • 91 citations

A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

1995 • 81 citations

Constitutive Activation of the Cyclic Adenosine 3′,5′-Monophosphate Signaling Pathway by Parathyroid Hormone (PTH)/PTH-Related Peptide Receptors Mutated at the Two Loci for Jansen’s Metaphyseal Chondrodysplasia

1997 • 69 citations

Calcium metabolism in the jansen type of metaphyseal dysplasia

1993 • 55 citations

The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult

1984 • 47 citations

Metaphyseal Chondrodysplasia of Jansen

1959 • 45 citations

Hypercalcemia due to constitutive activity of the parathyroid hormone (PTH)/PTH-related peptide receptor: comparison with primary hyperparathyroidism.

1996 • 42 citations

Role of protein kinase C in parathyroid hormone stimulation of renal 1,25-dihydroxyvitamin D3 secretion.

1992 • 40 citations

METAPHYSIAL DYSOSTOSIS

1969 • 39 citations

Murk Jansen's metaphyseal chondrodysplasia with long-term followup

1987 • 36 citations

Jansen-type Metaphyseal Chondrodysplasia: Analysis of PTH/PTH-related Protein Receptor Messenger RNA by the Reverse Transcriptase-Polymerase Chain Method.

1997 • 32 citations

The skull in metaphyseal chondrodysplasia type Jansen

1975 • 31 citations

Two unusual cases of nephrocalcinosis in infancy

1992 • 31 citations

Parathyroid Hormone: Biosynthesis, Secretion, Chemistry, and Action

1993 • 30 citations