Harald Juppner

Summary

Affiliation: Massachusetts General Hospital
Country: USA

Publications

  1. pmc Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis
    Clemens Bergwitz
    Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 94:4267-74. 2009
  2. pmc αKlotho: FGF23 coreceptor and FGF23-regulating hormone
    Harald Juppner
    Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Invest 122:4336-9. 2012
  3. pmc Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
    Johanna Korvala
    Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    BMC Med Genet 13:26. 2012
  4. pmc Ollier disease
    Caroline Silve
    INSERM U 773, Faculte de Medecine Xavier Bichat, 16 rue Henri Huchard, 75018 Paris, France
    Orphanet J Rare Dis 1:37. 2006
  5. ncbi request reprint Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism
    Harald Juppner
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Pediatr Endocrinol Metab 19:641-6. 2006
  6. pmc FGF-23: More than a regulator of renal phosphate handling?
    Harald Juppner
    Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    J Bone Miner Res 25:2091-7. 2010
  7. ncbi request reprint Novel regulators of phosphate homeostasis and bone metabolism
    Harald Juppner
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Ther Apher Dial 11:S3-22. 2007
  8. ncbi request reprint Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus
    Harald Juppner
    Endocrine Unit, Thier 5, Massachusetts General Hospital, Boston, MA 02114, USA
    Ann N Y Acad Sci 1068:250-5. 2006
  9. pmc 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
    Thomas Dean
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Mol Endocrinol 20:931-43. 2006
  10. pmc Critical role of parathyroid hormone (PTH) receptor-1 phosphorylation in regulating acute responses to PTH
    Akira Maeda
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 110:5864-9. 2013

Research Grants

  1. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2003
  2. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2002
  3. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 2001
  4. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2000
  5. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2001
  6. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 2000
  7. PTH/PTHRP RECEPTOR DEFECTS IN PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 1993
  8. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 1999
  9. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 1999

Detail Information

Publications65

  1. pmc Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis
    Clemens Bergwitz
    Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 94:4267-74. 2009
    ..However, it remained unclear to date how these mutations lead to loss of biologically active FGF23 in the circulation...
  2. pmc αKlotho: FGF23 coreceptor and FGF23-regulating hormone
    Harald Juppner
    Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Invest 122:4336-9. 2012
    ..show that the cleaved form of αKlotho, the membrane-bound form of which is an FGF23 coreceptor, serves as a novel endocrine regulator of phosphate homeostasis, capable of inducing FGF23 production in osteocytes...
  3. pmc Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
    Johanna Korvala
    Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    BMC Med Genet 13:26. 2012
    ..We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations in the Low-density lipoprotein receptor-related protein 5 (LRP5) gene, and the role of LRP5 is further investigated here...
  4. pmc Ollier disease
    Caroline Silve
    INSERM U 773, Faculte de Medecine Xavier Bichat, 16 rue Henri Huchard, 75018 Paris, France
    Orphanet J Rare Dis 1:37. 2006
    ..As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas...
  5. ncbi request reprint Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism
    Harald Juppner
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Pediatr Endocrinol Metab 19:641-6. 2006
    ....
  6. pmc FGF-23: More than a regulator of renal phosphate handling?
    Harald Juppner
    Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    J Bone Miner Res 25:2091-7. 2010
    ..Nonetheless, reducing the production and/or the biologic activity of FGF-23 may be an important therapeutic goal for this patient population...
  7. ncbi request reprint Novel regulators of phosphate homeostasis and bone metabolism
    Harald Juppner
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Ther Apher Dial 11:S3-22. 2007
    ..It also remains unclear whether the dramatically elevated FGF-23 levels in patients with different stages of chronic kidney disease affect bone metabolism, particularly the mineralization of newly formed osteoid...
  8. ncbi request reprint Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus
    Harald Juppner
    Endocrine Unit, Thier 5, Massachusetts General Hospital, Boston, MA 02114, USA
    Ann N Y Acad Sci 1068:250-5. 2006
    ....
  9. pmc 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
    Thomas Dean
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Mol Endocrinol 20:931-43. 2006
    ..Thus, (125)I-[Aib(1,3),M]PTH(1-15) appears to function as a selective probe of Galpha(S)-coupled, active-state PTHR conformations...
  10. pmc Critical role of parathyroid hormone (PTH) receptor-1 phosphorylation in regulating acute responses to PTH
    Akira Maeda
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 110:5864-9. 2013
    ....
  11. pmc Acute down-regulation of sodium-dependent phosphate transporter NPT2a involves predominantly the cAMP/PKA pathway as revealed by signaling-selective parathyroid hormone analogs
    So Nagai
    Endocrine Unit, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Biol Chem 286:1618-26. 2011
    ....
  12. ncbi request reprint 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
    Murat Bastepe
    Endocrine Unit, Massachusetts General Hospital for Children, MGH Harvard Medical School, Wellman 5, Boston, MA 02114, USA
    J Clin Endocrinol Metab 89:3595-600. 2004
    ..Our findings indicate that a mild form of JMC has been identified that is characterized by less pronounced skeletal and laboratory abnormalities...
  13. ncbi request reprint 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
    Agnes Linglart
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, 02114, USA
    Endocrinology 147:2253-62. 2006
    ..Thus, mutations that typically inactivate Gsalpha also impair XLalphas activity, consistent with a possible role for XLalphas deficiency in diseases caused by paternal GNAS mutations...
  14. pmc A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS
    Agnes Linglart
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 76:804-14. 2005
    ..4-kb deletion of STX16 and who had normal serum parathyroid hormone levels until the age of 21 mo...
  15. pmc Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib
    Leopold F Fröhlich
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 107:9275-80. 2010
    ....
  16. pmc Plasma FGF23 levels increase rapidly after acute kidney injury
    Marta Christov
    1 Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA 2 Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Kidney Int 84:776-85. 2013
    ..Thus, circulating FGF23 levels rise rapidly during AKI in rodents and humans. In mice, this increase is independent of established modulators of FGF23 secretion. ..
  17. pmc De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases
    Serap Turan
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 97:E2314-9. 2012
    ..Maternally inherited 3-kb STX16 deletions cause autosomal dominant pseudohypoparathyroidism type Ib (PHP-Ib) characterized by PTH resistance with loss of methylation restricted to the GNAS exon A/B...
  18. pmc Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib
    Eduardo Fernandez-Rebollo
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 109:6638-43. 2012
    ..The double-mutant mice will help elucidate the pathophysiological mechanisms underlying AD-PHP-Ib...
  19. pmc Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?
    Eduardo Fernandez-Rebollo
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Bone Miner Res 26:1854-63. 2011
    ..Based on our data, it appears plausible that some forms of PHP-Ib are caused by homozygous or compound heterozygous mutation(s) in an unknown gene involved in establishing or maintaining GNAS methylation...
  20. pmc 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
    Graciana Jaureguiberry
    Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA
    Am J Physiol Renal Physiol 295:F371-9. 2008
    ..M137 thus may uncouple sodium-phosphate cotransport, suggesting that this amino acid residue has an important functional role in human NaPi-IIc...
  21. ncbi request reprint Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 37:25-7. 2005
    ....
  22. ncbi request reprint Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16
    Leopold F Fröhlich
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital for Children MGH, Boston, MA 02114, USA
    Endocrinology 148:2925-35. 2007
    ....
  23. pmc Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis
    Smitha Chillambhi
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, 50 Blossom Street Thier 10, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 95:3993-4002. 2010
    ....
  24. pmc Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib
    Serap Turan
    Endocrine Unit Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Eur J Endocrinol 163:489-93. 2010
    ..Our findings emphasize the importance of considering a parentally imprinted, AD disorder even if consanguinity suggests an AR mode of inheritance...
  25. ncbi request reprint Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia
    Kenneth B Jonsson
    Endocrine Unit, Department of Medicine, and MassGeneral Hospital for Children, Massachusetts General Hospital and Harvard Medical School, Boston, USA
    N Engl J Med 348:1656-63. 2003
    ..To determine whether FGF-23 circulates in healthy persons and whether it is elevated in those with oncogenic osteomalacia or X-linked hypophosphatemia, an immunometric assay was developed to measure it...
  26. pmc 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
    Jun Guo
    Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Endocrinology 154:1680-9. 2013
    ..Our data indicate that PLC signaling at the PPR contributes to the long-term effect of PTH on Pi homeostasis but not to the regulation of 1,25 dihydroxyvitamin D3, fibroblast growth factor 23, or blood Ca(2+)...
  27. ncbi request reprint Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease
    Orlando Gutierrez
    Department of Medicine Internal Medicine Residency Training Program, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
    J Am Soc Nephrol 16:2205-15. 2005
    ..Increased FGF-23 may contribute to maintaining normal serum phosphate levels in the face of advancing CKD but may worsen calcitriol deficiency and thus may be a central factor in the early pathogenesis of SHPT...
  28. pmc Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Clin Invest 112:1255-63. 2003
    ..We therefore postulate that this microdeletion disrupts a putative cis-acting element required for methylation at exon A/B, and that this genetic defect underlies the renal PTH resistance in AD-PHP-Ib...
  29. doi request reprint Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation
    Murat Bastepe
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Rev Endocr Metab Disord 9:171-80. 2008
    ..This review focuses on the clinical, biochemical, and genetic features of inherited hypophosphatemic disorders, and presents the current understanding of hormonal and molecular mechanisms that govern phosphorous homeostasis...
  30. doi request reprint Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23
    Clemens Bergwitz
    Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Annu Rev Med 61:91-104. 2010
    ..Most insights gained into the regulation of phosphate homeostasis by these factors are derived from human genetic disorders and genetically engineered mice, which are reviewed in this paper...
  31. pmc Synthesis and characterization of novel biotinylated carboxyl-terminal parathyroid hormone peptides that specifically crosslink to the CPTH-receptor
    Santanu Banerjee
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, 50 Blossom Street, Boston, MA 02114, USA
    Peptides 27:3352-62. 2006
    ..While the molecular structure of the CPTHR(s) remains undefined, these bifunctional ligands represent powerful new tools for use in isolating and characterizing CPTHR protein(s)...
  32. pmc Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism
    MICHAEL MANNSTADT
    Endocrine Unit Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Thier 1051, 55 Fruit Street, Boston, Massachusetts 02114, USA
    J Endocrinol 210:165-71. 2011
    ..Furthermore, pulse-chase experiments demonstrated no difference in half-life of wild-type and mutant protein. We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of PHPT...
  33. doi request reprint Regulation of calcium homeostasis and bone metabolism in the fetus and neonate
    Deborah M Mitchell
    Pediatric Endocrinology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Curr Opin Endocrinol Diabetes Obes 17:25-30. 2010
    ..Regulation of calcium and phosphorus levels in the fetus and neonate is critical for proper bone development and mineralization...
  34. pmc A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
    Robert C Gensure
    Endocrine and Pediatric Endocrine Units, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, USA
    J Clin Invest 115:1250-7. 2005
    ..These findings extend the spectrum of COL1A1-related diseases to include a hyperostotic disorder...
  35. ncbi request reprint Parathyroid hormone and parathyroid hormone-related peptide, and their receptors
    Robert C Gensure
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    Biochem Biophys Res Commun 328:666-78. 2005
    ....
  36. pmc Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations
    MICHAEL MANNSTADT
    Massachusetts General Hospital, Endocrine Unit, Harvard Medical School, Thier 1051, 55 Fruit Street, Boston Massachusetts 02114, USA
    J Clin Endocrinol Metab 97:E1978-86. 2012
    ..Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level...
  37. doi request reprint FGF23 and syndromes of abnormal renal phosphate handling
    Clemens Bergwitz
    Harvard Medical School, Boston, MA, USA
    Adv Exp Med Biol 728:41-64. 2012
    ..Loss-of-function mutations in these two transporters lead to autosomal recessive Fanconi syndrome or to hereditary hypophosphatemic rickets with hypercalciuria, respectively...
  38. pmc Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active
    Takashi Shimada
    Endocrine Unit, Thier 10, 50 Blossum Street, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 95:578-85. 2010
    ..Conclusions: Our results provide strong evidence for the conclusion that virtually all circulating FGF23 in dialysis patients is intact and biologically active...
  39. pmc Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo
    Murat Bastepe
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 101:14794-9. 2004
    ..These data suggest that Gsalpha is the primary mediator of the actions of PPR in growth plate chondrocytes and that there is haploinsufficiency of Gsalpha signaling in Gnas(+/E2-) chondrocytes...
  40. pmc Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice
    Despina Sitara
    Department of Oral and Developmental Biology, The Forsyth Institute, Harvard School of Dental Medicine, 140 The Fenway, Boston, MA, 02115, USA
    Matrix Biol 23:421-32. 2004
    ....
  41. pmc Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism
    MICHAEL MANNSTADT
    Endocrine Unit, Massachusetts General Hospital, Thier 1051, 55 Fruit Street, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 93:3568-76. 2008
    ..Furthermore, homozygous mutations in glial cells missing B (GCMB) have been implicated in autosomal recessive HP (AR-HP). In most other HP patients, however, the molecular defect remains undefined...
  42. pmc Insights from genetic disorders of phosphate homeostasis
    Marta Christov
    Renal Unit, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
    Semin Nephrol 33:143-57. 2013
    ..Thus, we are able to leverage our knowledge of rare human disorders affecting only a few individuals, to understand and potentially treat disease processes that affect millions of patients...
  43. ncbi request reprint Immunoassays for the detection of parathyroid hormone
    Harald Juppner
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA
    J Bone Miner Res 17:N81-6. 2002
    ....
  44. pmc Daily variability in mineral metabolites in CKD and effects of dietary calcium and calcitriol
    Tamara Isakova
    Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    Clin J Am Soc Nephrol 7:820-8. 2012
    ....
  45. ncbi request reprint GNAS locus and pseudohypoparathyroidism
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Horm Res 63:65-74. 2005
    ....
  46. pmc 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
    Clemens Bergwitz
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 78:179-92. 2006
    ..We conclude that NaP(i)-IIc has a key role in the regulation of phosphate homeostasis...
  47. pmc Disorders of phosphate homeostasis and tissue mineralisation
    Clemens Bergwitz
    Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Endocr Dev 16:133-56. 2009
    ..This chapter will provide an update on the current knowledge of the pathophysiology, the clinical presentation, diagnostic evaluation and therapy of the disorders of phosphate homeostasis and tissue mineralisation...
  48. pmc Phosphate sensing
    Clemens Bergwitz
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    Adv Chronic Kidney Dis 18:132-44. 2011
    ..This article will review the bacterial and yeast phosphate sensors, and then discuss what is currently known about the metabolic and endocrine effects of phosphate in multicellular organisms and human beings...
  49. pmc Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis
    ORLANDO M GUTIERREZ
    Renal Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, USA
    N Engl J Med 359:584-92. 2008
    ..Hyperphosphatemia and low 1,25-dihydroxyvitamin D levels are associated with mortality among patients with chronic kidney disease, but the effect of the level of FGF-23 on mortality is unknown...
  50. ncbi request reprint Dietary phosphate: the challenges of exploring its role in FGF23 regulation
    Marta Christov
    1 Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA 2 Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Kidney Int 84:639-41. 2013
    ..In the study by Zhang et al., severe phosphate restriction in a genetic mouse model of progressive kidney dysfunction failed to cause a uniform FGF23 reduction, again highlighting the complexity of FGF23 regulation. ..
  51. pmc Disordered FGF23 and Mineral Metabolism in Children with CKD
    Anthony A Portale
    Department of Pediatrics, University of California, San Francisco, California, Department of Medicine and, Department of Epidemiology and Public Health, University of Miami Miller School of Medicine, Miami, Florida, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, Department of Pediatrics, Weill Cornell Medical College, New York, New York, Department of Pediatrics, University of California, Los Angeles, California, Department of Pediatrics, University of Rochester School of Medicine, Rochester, New York, Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, Department of Pediatrics, University of Missouri Kansas City School of Medicine, Kansas City, Missouri
    Clin J Am Soc Nephrol 9:344-53. 2014
    ....
  52. doi request reprint Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood
    Margaret Seton
    Massachusetts General Hospital, Rheumatology, Allergy and Immunology, Bulfinch 165, 55 Fruit St, Boston, MA 02114, USA
    Bone 52:640-3. 2013
    ..The disease is caused by heterozygous FGF23 mutations at the RXXR site that prevent cleavage of the intact hormone...
  53. pmc Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma
    David E Leaf
    Division of Renal Medicine, Brigham and Women s Hospital, 75 Francis Street, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 98:887-91. 2013
    ..Most cases of oncogenic osteomalacia have been associated with benign tumors of bone or soft tissue; however, whether malignant neoplasms can also produce and secrete FGF23 is currently unknown...
  54. pmc Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia
    Serap Turan
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Bone 46:402-9. 2010
    ..The identified genetic mutation underscores the importance of DMP-1 mutations in the pathogenesis of ARHP. Furthermore, DMP-1 mutations appear to contribute, through yet unknown mechanisms, to tooth development...
  55. pmc Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    Bone 48:659-62. 2011
    ....
  56. ncbi request reprint Identification and characterization of two parathyroid hormone-like molecules in zebrafish
    Robert C Gensure
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA
    Endocrinology 145:1634-9. 2004
    ..The availability of multiple forms of fish PTH and their receptors provide additional tools for PTH ligand/receptor structure-function studies...
  57. ncbi request reprint Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women
    Sherri Ann M Burnett
    Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Bone Miner Res 21:1187-96. 2006
    ..Dietary phosphate is a key regulator of circulating FGF-23; choice of assay is critical when studying FGF-23 physiology...
  58. ncbi request reprint Haplotype frequencies and linkage disequilibrium analysis of four frequent polymorphisms at the PTH/PTH-related peptide receptor gene locus
    Leopold F Fröhlich
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, 50 Blossom Street, Wellman 501, Boston, MA 02114, USA
    Mol Cell Probes 18:353-7. 2004
    ..These findings may thus affect the design and interpretation of future genetic studies involving PTHR1...
  59. pmc Effects of teriparatide retreatment in osteoporotic men and women
    Joel S Finkelstein
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 94:2495-501. 2009
    ..The stimulatory effect of teriparatide on bone mineral density (BMD) and bone turnover is initially exuberant, but then diminishes...
  60. ncbi request reprint Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit
    Murat Bastepe
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Mol Endocrinol 16:1912-9. 2002
    ..Our findings thus indicate that XLalpha(s) is capable of functionally coupling to receptors that normally act via Gs(alpha)...
  61. ncbi request reprint Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus
    Agnes Linglart
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Clin Endocrinol (Oxf) 67:822-31. 2007
    ..STX16del4-6(mat) is not found in sporadic PHP-Ib (sporPHP-Ib) patients, who show broad GNAS methylation changes. Because of the epigenetic differences between both groups, we searched for clinical and/or laboratory differences...
  62. pmc Caffey disease: new perspectives on old questions
    Harikiran Nistala
    Department of Oral Medicine, Infection and Immunity, Harvard School of Dental Medicine, Boston, MA, USA
    Bone 60:246-51. 2014
    ....
  63. pmc Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism
    Hyon Seung Yi
    Department of Internal Medicine and Laboratory of Molecular Endocrinology, Gachon University School of Medicine, Incheon, Korea
    Clin Endocrinol (Oxf) 76:625-33. 2012
    ..A novel heterozygous mutation in exon 2 of GCMB was identified in both affected individuals that changes cysteine at position 106 of the putative DNA-binding domain of GCMB to arginine (C106R)...
  64. ncbi request reprint Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues
    Markus R John
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Endocrinology 143:1047-57. 2002
    ..Because PTH2 receptor expression was previously shown to be highest in brain, pancreas, and testis, our findings are consistent with the notion that TIP39 is a neuropeptide which may also have a role in spermatogenesis...

Research Grants18

  1. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2003
    ..In Aim 3, we plan to search for additional PTH1R mutations in JMC patients and to assess in these and previously characterized individuals the changes in trabecular and cortical bone formation. ..
  2. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2002
    ..In Aim 3, we plan to search for additional PTH1R mutations in JMC patients and to assess in these and previously characterized individuals the changes in trabecular and cortical bone formation. ..
  3. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 2001
    ....
  4. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2000
    ..Insights from these studies may lead to treatment protocols of JMC, and more common forms of metabolic bone diseases, e.g. osteoporosis, renal osteodystrophy, and the growth failure in uremic children. ..
  5. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2001
    ..In Aim 3, we plan to search for additional PTH1R mutations in JMC patients and to assess in these and previously characterized individuals the changes in trabecular and cortical bone formation. ..
  6. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 2000
    ....
  7. PTH/PTHRP RECEPTOR DEFECTS IN PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 1993
    ..This knowledge, particularly of the role of the PTH/PTHrP receptor system in the skeleton, may lead to more rational intervention in bone diseases, including bone-loss states...
  8. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 1999
    ..Insights from these studies may lead to treatment protocols of JMC, and more common forms of metabolic bone diseases, e.g. osteoporosis, renal osteodystrophy, and the growth failure in uremic children. ..
  9. MOLECULAR DEFINITION OF PSEUDOHYPOPARATHYROIDISM
    HARALD JUEPPNER; Fiscal Year: 1999
    ....