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A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals

artículo científico publicado en 2019

A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism

artículo científico publicado en 2015

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

artículo científico publicado en 2017

A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia

artículo científico publicado en 1995

A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation

artículo científico publicado en 2004

A mutant PTH/PTHrP type I receptor in enchondromatosis

artículo científico publicado en 2002

A new multi-system disorder caused by the Gαs mutation p.F376V

article

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

artículo científico publicado en 2005

A novel GNAS duplication associated with loss-of-methylation restricted to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B)

artículo científico publicado en 2020

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

artículo científico publicado en 2005

A novel cyclin encoded by a bcl1-linked candidate oncogene ⬇️

artículo científico publicado el 11 de abril de 1991

A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.

artículo científico publicado en 2017

A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

artículo científico publicado en 2008

A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia

artículo científico publicado en 1999

Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.

artículo científico publicado en 2015

Activation of a non-cAMP/PKA signaling pathway downstream of the PTH/PTHrP receptor is essential for a sustained hypophosphatemic response to PTH infusion in male mice

artículo científico publicado en 2013

Acute Down-regulation of Sodium-dependent Phosphate Transporter NPT2a Involves Predominantly the cAMP/PKA Pathway as Revealed by Signaling-selective Parathyroid Hormone Analogs ⬇️

artículo científico publicado el 3 de noviembre de 2010

Acute Parathyroid Hormone Injection Increases C-Terminal but Not Intact Fibroblast Growth Factor 23 Levels

artículo científico publicado en 2017

An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia

artículo científico publicado en 2019

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

artículo científico publicado en 2015

Autoantibodies against parathyroid hormone in a patient with terminal renal insufficiency ⬇️

artículo científico publicado el 23 de junio de 1984

Autoantibodies to parathyroid hormone receptor ⬇️

artículo científico publicado el 9 de diciembre de 1978

Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood

artículo científico publicado en 2012

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS ⬇️

artículo científico publicado el 1 de octubre de 2003

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus

artículo científico publicado en 2006

Binding of bovine parathyroid hormone to surface receptors of cultured B-lymphocytes ⬇️

artículo científico publicado el 16 de mayo de 1979

Biochemical Characterization of Cellular Hormone Receptors ⬇️

artículo científico publicado el 1 de enero de 1991

C-terminal PTH (70-84) after biliary ligation in rats: implications for the diagnostic importance in hepatobiliary disease

artículo científico publicado en 1986

Caffey disease: new perspectives on old questions

artículo científico publicado en 2013

Calcitriol and doxercalciferol are equivalent in controlling bone turnover, suppressing parathyroid hormone, and increasing fibroblast growth factor-23 in secondary hyperparathyroidism

artículo científico publicado en 2010

Calcium-regulated parathyroid hormone release in patients with mild or advanced secondary hyperparathyroidism

scientific article published on 01 November 1995

Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing

artículo científico publicado en 2017

Characterization of the molecular mechanisms of the coupling between intracellular loops of prostacyclin receptor with the C-terminal domain of the Galphas protein in human coronary artery smooth muscle cells

artículo científico publicado en 2006

Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers

artículo científico publicado en 2003

Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active

artículo científico publicado en 2009

Clinical case seminar: Fibroblast growth factor 23: a new clinical marker for oncogenic osteomalacia

artículo científico publicado en 2003

Cloning and characterization of the vitamin D receptor from Xenopus laevis

artículo científico publicado en 1997

Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.

artículo científico publicado en 2006

Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.

artículo científico publicado en 2017

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

artículo científico publicado en 1997

Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia

artículo científico publicado en 1996

Critical role of parathyroid hormone (PTH) receptor-1 phosphorylation in regulating acute responses to PTH

artículo científico publicado en 2013

D2 dopamine receptor-induced sensitization of adenylyl cyclase type 1 is G alpha(s) independent

artículo científico publicado en 2005

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

artículo científico publicado en 2006

Daily variability in mineral metabolites in CKD and effects of dietary calcium and calcitriol

artículo científico publicado en 2012

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

artículo científico publicado en 2012

Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis

artículo científico publicado en 2009

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

article by Murat Bastepe et al published January 2005 in Nature Genetics

Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis.

artículo científico publicado en 2010

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

artículo científico publicado en 2010

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.

artículo científico publicado en 2018

Dietary phosphate: the challenges of exploring its role in FGF23 regulation

artículo científico publicado en 2013

Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism

artículo científico publicado en 2006

Direct radioimmunoassay for human atrial natriuretic peptide (hANP) and its clinical evaluation

artículo científico publicado en 1986

Discovery of Orally Bioavailable Selective Inhibitors of the Sodium-Phosphate Cotransporter NaPi2a (SLC34A1)

artículo científico publicado en 2018

Disordered FGF23 and mineral metabolism in children with CKD

artículo científico publicado en 2013

Disorders of phosphate homeostasis and tissue mineralisation

artículo científico publicado en 2009

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

artículo científico publicado en 2008

Dosage-dependent switch from G protein-coupled to G protein-independent signaling by a GPCR

artículo científico publicado en 2007

Early skeletal and biochemical alterations in pediatric chronic kidney disease

artículo científico publicado en 2011

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes

artículo científico publicado en 2017

Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation.

artículo científico publicado en 2003

Effects of teriparatide retreatment in osteoporotic men and women

artículo científico publicado en 2009

Efficacy of calcium carbonate and low-dose vitamin D/1,25(OH)2D3 in reducing the risk of developing renal osteodystrophy in children on continuous ambulatory peritoneal dialysis

artículo científico publicado en 1990

Epidemiology and Diagnosis of Hypoparathyroidism

artículo científico publicado en 2016

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

artículo científico publicado en 2007

Evidence for a ligand interaction site at the amino-terminus of the parathyroid hormone (PTH)/PTH-related protein receptor from cross-linking and mutational studies

scientific journal article

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

artículo científico publicado en 2011

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 in ⬇️

artículo científico publicado el 1 de abril de 1992

Expression of fgf23 and αklotho in developing embryonic tissues and adult kidney of the zebrafish, Danio rerio

artículo científico publicado en 2012

FGF-23: More than a regulator of renal phosphate handling?

artículo científico publicado en 2010

FGF23 Is Not Associated With Age-Related Changes in Phosphate, but Enhances Renal Calcium Reabsorption in Girls.

artículo científico publicado en 2017

FGF23 and Left Ventricular Hypertrophy in Children with CKD.

artículo científico publicado en 2017

FGF23 and mineral metabolism in the early post-renal transplantation period

artículo científico publicado en 2013

FGF23 and syndromes of abnormal renal phosphate handling

artículo científico publicado en 2012

Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

artículo científico publicado en 2012

Fibroblast Growth Factor 23 Levels Associate with AKI and Death in Critical Illness.

artículo científico publicado en 2016

Fibroblast Growth Factor 23 and Risk of CKD Progression in Children.

artículo científico publicado en 2016

Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis

artículo científico publicado en 2008

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia

artículo científico publicado en 2003

Fibroblast growth factor 23 levels are elevated and associated with severe acute kidney injury and death following cardiac surgery

artículo científico publicado en 2016

Fibroblast growth factor 23: fueling the fire

artículo científico publicado en 2016

Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease

artículo científico publicado en 2005

First- and second-generation immunometric PTH assays during treatment of hyperparathyroidism with cinacalcet HCl.

artículo científico publicado en 2005

Fractures and Osteomalacia in a Patient Treated With Frequent Home Hemodialysis.

artículo científico publicado en 2017

Full activation of chimeric receptors by hybrids between parathyroid hormone and calcitonin. Evidence for a common pattern of ligand-receptor interaction

scientific article published on 01 October 1996

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

artículo científico publicado en 2011

GNAS locus and pseudohypoparathyroidism

artículo científico publicado en 2005

GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children

artículo científico publicado en 2020

Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease

artículo científico publicado en 2012

Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism

artículo científico

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.

artículo científico publicado en 2018

Germline mutations affecting Gα11 in hypoparathyroidism

artículo científico publicado en 2013

Glycerol-3-phosphate is an FGF23 regulator derived from the injured kidney

artículo científico publicado en 2020

Haplotype frequencies and linkage disequilibrium analysis of four frequent polymorphisms at the PTH/PTH-related peptide receptor gene locus

artículo científico publicado en 2004

Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy

artículo científico publicado en 2011

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

scientific article published on 21 March 2019

Homologous radioimmunoassay for human mid-regional parathyroid hormone.

artículo científico publicado en 1981

Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice

scientific journal article

Hypoparathyroidism and central diabetes insipidus: in search of the link.

artículo científico publicado en 2014

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research

artículo científico publicado en 2011

Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia

artículo científico publicado en 2008

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications

artículo científico publicado en 2008

Hypoplastic Metatarsals--Beyond Cosmesis

artículo científico publicado en 2015

Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism

artículo científico publicado en 2012

Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues

artículo científico publicado en 2002

Identification and characterization of the zebrafish and fugu genes encoding tuberoinfundibular peptide 39.

artículo científico publicado en 2004

Identification and characterization of two parathyroid hormone-like molecules in zebrafish

artículo científico publicado en 2003

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia

artículo científico publicado en 2009

Immunoassays for the detection of parathyroid hormone

artículo científico publicado en 2002

Immunohistochemicaf evidence of parathyroid hormone-related protein in human parathyroid tissue

scientific article published on 01 September 1990

Immunohistochemical detection of FGF-23 protein in tumors that cause oncogenic osteomalacia

artículo científico publicado en 2003

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

artículo científico publicado en 2016

Impaired growth, delayed ossification, and reduced osteoclastic activity in the growth plate of calcium-supplemented rats with renal failure

artículo científico publicado en 2000

In situ localization of PTH/PTHrP receptor mRNA in the bone of fetal and young rats

scientific article published on 01 May 1993

Inducible podocyte-specific deletion of CTCF drives progressive kidney disease and bone abnormalities.

artículo científico publicado en 2018

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

artículo científico publicado en 2008

Inhibition of renal adenylate cyclase by plasma from uremic patients

scientific article published on 01 September 1982

Insights from genetic disorders of phosphate homeostasis

artículo científico publicado en 2013

Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia

artículo científico publicado en 2016

Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation

scientific article published on 01 July 1996

Kinetics of PTH metabolism and PTH fragments in chronic renal failure

artículo científico publicado el 1 de enero de 1978

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

artículo científico publicado en 2001

Lack of FGF23 response to acute changes in serum calcium and PTH in humans

artículo científico publicado en 2014

Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16

artículo científico publicado en 2007

List of Contributors

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

artículo científico publicado en 2010

Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.

artículo científico publicado en 2012

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

artículo científico publicado en 2015

Mechanisms of ligand binding to the parathyroid hormone (PTH)/PTH-related protein receptor: selectivity of a modified PTH(1-15) radioligand for GalphaS-coupled receptor conformations

artículo científico publicado en 2005

Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues

artículo científico

Mineral abnormalities and long-term graft function in pediatric renal transplant recipients: a role for FGF-23?

artículo científico publicado en 2011

Molecular cloning and characterization of a parathyroid hormone/parathyroid hormone-related peptide receptor: a member of an ancient family of G protein-coupled receptors

artículo científico publicado en 1994

Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia.

artículo científico publicado en 2005

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

artículo científico publicado en 2005

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

scientific article published on 04 September 2013

Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism

artículo científico publicado en 2011

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

artículo científico publicado en 2012

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

artículo científico publicado en 2014

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

artículo científico publicado en 2015

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

artículo científico publicado en 2006

Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23

artículo científico publicado en 2020

New PTH assays and renal osteodystrophy

artículo científico publicado en 2004

New lessons from old assays: parathyroid hormone (PTH), its receptors, and the potential biological relevance of PTH fragments

artículo científico publicado en 2002

Nonclassic features of pseudohypoparathyroidism type 1A.

artículo científico publicado en 2016

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred

artículo científico publicado en 2012

Novel regulators of phosphate homeostasis and bone metabolism

artículo científico publicado en 2007

Ollier disease

artículo científico publicado en 2006

Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma

artículo científico publicado en 2013

Osteocytic protein expression response to doxercalciferol therapy in pediatric dialysis patients

artículo científico publicado en 2015

Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis

artículo científico publicado en 2010

Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype

artículo científico publicado en 2005

PHEX, FGF23, DMP1 and beyond

artículo científico publicado en 2008

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

scientific journal article

Parathyroid Disorders

artículo científico publicado en 2012

Parathyroid hormone (PTH), PTH-derived peptides, and new PTH assays in renal osteodystrophy

artículo científico publicado en 2003

Parathyroid hormone and osteocalcin levels in plasma and ultrafiltrate during hemofiltration

artículo científico publicado en 1993

Parathyroid hormone and parathyroid hormone-related peptide, and their receptors

artículo científico publicado en 2005

Parathyroid hormone fragments in secretory granules of human parathyroid adenomata

artículo científico publicado en 1980

Parathyroid hormone metabolism in normal and uremic man

artículo científico publicado en 1978

Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism

artículo científico publicado en 2011

Parathyroid hormone without parathyroid glands

artículo científico publicado en 2005

Parathyroid hormone-related peptide as an endogenous inducer of parietal endoderm differentiation.

artículo científico publicado en 1993

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

artículo científico publicado en 2013

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

artículo científico publicado en 2001

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib) ⬇️

artículo científico publicado el 19 de octubre de 2010

Patterns of FGF-23, DMP1, and MEPE expression in patients with chronic kidney disease

scientific article published on 11 August 2009

Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance

artículo científico publicado en 2004

Phosphate Sensing ⬇️

artículo científico publicado el 1 de marzo de 2011

Phosphate and FGF-23

artículo científico publicado en 2011

Phosphate homeostasis disorders

scientific article published on 18 June 2018

Phosphate homeostasis in CKD: report of a scientific symposium sponsored by the National Kidney Foundation

artículo científico

Physiology of the Developing Kidney: Disorders and Therapy of Calcium and Phosphorous Homeostasis

artículo científico publicado en 2015

Pilot study of dietary phosphorus restriction and phosphorus binders to target fibroblast growth factor 23 in patients with chronic kidney disease

artículo científico publicado en 2010

Plasma FGF23 levels increase rapidly after acute kidney injury.

artículo científico publicado en 2013

Polymorphism in exon M7 of the PTHR gene

artículo científico publicado en 1994

Preferential maternal transmission of STX16-GNAS mutations responsible for autosomal dominant pseudohypoparathyroidism type Ib (PHP1B): another example of Transmission Ratio Distortion

artículo científico publicado en 2020

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

artículo científico publicado en 2018

Prolonged Pharmacokinetic and Pharmacodynamic Actions of a Pegylated Parathyroid Hormone (1-34) Peptide Fragment

artículo científico publicado en 2016

Properties of amino-terminal parathyroid hormone-related peptides modified at positions 11-13

artículo científico publicado en 1990

Pseudohypoparathyroidism

artículo científico publicado en 2018

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

artículo científico publicado en 2017

Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.

artículo científico publicado en 2016

Pseudohypoparathyroidism: one gene, several syndromes

artículo científico publicado en 2016

Radioimmunoassay for human osteocalcin using an antibody raised against the synthetic human (h37-49) sequence

artículo científico publicado en 1986

Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2).

artículo científico publicado en 1994

Rapid detection of intact FGF-23 in tumor tissue from patients with oncogenic osteomalacia

scientific article published on 01 July 2008

Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis

artículo científico publicado en 2012

Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit.

artículo científico publicado en 2002

Receptors for PTH and PTHrP: their biological importance and functional properties

artículo científico publicado en 1999

Receptors for parathyroid hormone and parathyroid hormone-related peptide: from molecular cloning to definition of diseases.

artículo científico publicado en 1996

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

artículo científico publicado en 2010

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

artículo científico publicado en 2020

Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women

scientific article published on 01 August 2006

Regulation of calcium homeostasis and bone metabolism in the fetus and neonate

artículo científico publicado en 2010

Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23.

artículo científico publicado en 2010

Regulation of thyroid hormone metabolism in rat liver fractions ⬇️

artículo científico publicado el 13 de febrero de 1978

Relationship between plasma fibroblast growth factor-23 concentration and bone mineralization in children with renal failure on peritoneal dialysis

artículo científico publicado en 2008

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 ⬇️

artículo científico publicado el 14 de noviembre de 1997

Response of Npt2a knockout mice to dietary calcium and phosphorus.

artículo científico publicado en 2017

Response of different PTH assays to therapy with sevelamer or CaCO3 and active vitamin D sterols

artículo científico publicado en 2009

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

artículo científico publicado en 2006

Salt-inducible kinases dictate parathyroid hormone 1 receptor action in bone development and remodeling

scientific article published on 01 December 2019

Selective determination of C-terminal (70-84) hPTH: elevated concentrations in cholestatic liver disease

artículo científico publicado en 1986

Selective pharmacological inhibition of the sodium-dependent phosphate co-transporter NPT2a promotes phosphate excretion

artículo científico publicado en 2020

Sevelamer controls parathyroid hormone-induced bone disease as efficiently as calcium carbonate without increasing serum calcium levels during therapy with active vitamin D sterols

artículo científico publicado en 2005

Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause

artículo científico publicado en 2019

Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus

artículo científico publicado en 2007

Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)

artículo científico publicado en 2015

Similar predictive value of bone turnover using first- and second-generation immunometric PTH assays in pediatric patients treated with peritoneal dialysis.

artículo científico publicado en 2003

Solubilization of functional receptors for parathyroid hormone and parathyroid hormone-related peptide from clonal rat osteosarcoma cells, ROS17/2.8.

artículo científico publicado en 1992

Somatic growth after kidney transplantation. Beneficial effect of cyclosporine in comparison with conventional immunosuppression

artículo científico publicado en 1987

Special aspects of renal osteodystrophy in children

artículo científico publicado en 2004

Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo.

scholarly article

Suppressive effect of calcium on parathyroid hormone release in adynamic renal osteodystrophy and secondary hyperparathyroidism

artículo científico publicado en 1997

Synthesis and characterization of novel biotinylated carboxyl-terminal parathyroid hormone peptides that specifically crosslink to the CPTH-receptor

artículo científico publicado en 2006

TIP39/parathyroid hormone type 2 receptor signaling is a potent inhibitor of chondrocyte proliferation and differentiation

artículo científico publicado en 2009

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)

artículo científico publicado en 2015

Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib

scientific journal article

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 ⬇️

artículo científico publicado el 9 de diciembre de 1997

The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome

artículo científico publicado en 1988

The Putative Oncogene PRAD1 Encodes a Novel Cyclin ⬇️

artículo científico publicado el 1 de enero de 1991

The calcemic response to continuous parathyroid hormone (PTH)(1-34) infusion in end-stage kidney disease varies according to bone turnover: a potential role for PTH(7-84)

artículo científico publicado en 2010

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

artículo científico publicado en 1998

The genetic basis of progressive osseous heteroplasia

artículo científico publicado en 2002

The history of parathyroid hormone and its receptor: structure-based design of parathyroid hormone analogues

scientific article published on 01 January 1997

The osteocyte in CKD: new concepts regarding the role of FGF23 in mineral metabolism and systemic complications

artículo científico publicado en 2012

The rat, mouse, and human genes encoding the receptor for parathyroid hormone and parathyroid hormone-related peptide are highly homologous

scientific article published on 01 June 1994

The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome

artículo científico publicado en 2005

Transforming growth factor-β1 regulates steady-state PTH/PTHrP receptor mRNA levels and PTHrP binding in ROS 17/2.8 osteosarcoma cells

artículo científico publicado en 1994

Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis

artículo científico publicado en 2004

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

artículo científico

Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13

artículo científico publicado en 1999

[Mid C regional parathyroid hormone in the clinical workup: diagnostic value in extrarenal (primary) and renal (secondary) hyperparathyroidism]

scientific article published on 01 March 1986

[Mode of action of parathyroid hormone (PTH) and PTH-related peptide (PTHrP) in target organs]

artículo científico publicado en 1994

αKlotho: FGF23 coreceptor and FGF23-regulating hormone

artículo científico publicado en 2012

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