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Clemens Bergwitz, MD

Associate Professor of Medicine

Contact Information

Clemens Bergwitz, MD

Mailing Address

  • Endocrinology

    PO Box 208020

    New Haven, CT 06520-8020

    United States

Yale Medicine

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Research Summary

Our research focuses on inborn errors of phosphate metabolism and the endocrine regulation of phosphate homeostasis with emphasis on the metabolic and homeostatic effects of phosphate.

Extensive Research Description

Genetic causes of hypophosphatemia

In 2006 we identified the genetic defect underlying the childhood disorder Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). HHRH is caused by mutations in NaPi-IIc, a renal sodium-phosphate co-transporter, which is important to conserve phosphate in the kidney and when lost leads to hypophosphatemia and rickets. Our research goal is now to study the role of NaPi-IIc in human phosphate homeostasis and to understand the phenotypic variability of patients suffering from HHRH. For this purpose we are currently using mammalian and Xenopus oocyte expression systems to study the functional properties of the identified human NaPi-IIc mutations in vitro. Plan for the near future is to establish mouse models to study the role of NaPi-IIc in the development of renal stones in vivo. We also established international collaborations to look for NaPi-IIc mutations in new patients suffering from HHRH both to establish their molecular diagnosis and to carefully study their symptoms to see whether only some or all patients are at risk for developing kidney stones.

Metabolic and homeostatic effects of phosphate

A more recent research interest is in trying to understand how human and other metazoan cells sense inorganic phosphate to explain the effects of phosphate on cell metabolism (“metabolic” sensing), how phosphate feeds back to regulate the above hormonal systems (“homeostatic” sensing) and whether the “metabolic” and the “homeostatic” sensor use the same or different signal transduction cascades.

For this purpose we have performed a genome-wide Drosophila RNAi knockdown in collaboration with Stephanie Mohr, Liz Perkins and Norbert Perrimon, Harvard Medical School using phosphate-induced activation of MAPK (in vitro). The identified 103 genes, including 84 phosphate-specific genes are currently evaluated in life flies with assays for dietary phosphate toxicity, hemolymph phosphate and life span. Our goal in the next few years will be to identify mammalian systems suitable to study phosphate sensing, while further exploring Drosophila melanogaster as model organism. Relevant readouts for humans will be the homeostatic regulation of synthesis and secretion of PTH, 1,25-D, FGF23 by phosphate and it’s metabolic effects on life-span in genetic disorders such as familial hyperphosphatemic tumoral calcinosis (FHTC) and in chronic kidney disease.

Coauthors

Research Interests

Nephrocalcinosis; Phosphorus Metabolism Disorders; Rickets; Signal Transduction; Phosphate Transport Proteins; Genetic Diseases, Inborn

Public Health Interests

Genetics, Genomics, Epigenetics; Metabolism

Selected Publications

  • Slc20a1/Pit1 and Slc20a2/Pit2 are essential for normal skeletal myofiber function and survival.Chande S, Caballero D, Ho BB, Fetene J, Serna J, Pesta D, Nasiri A, Jurczak M, Chavkin NW, Hernando N, Giachelli CM, Wagner CA, Zeiss C, Shulman GI, Bergwitz C. Slc20a1/Pit1 and Slc20a2/Pit2 are essential for normal skeletal myofiber function and survival. Scientific Reports 2020, 10: 3069. PMID: 32080237, PMCID: PMC7033257, DOI: 10.1038/s41598-020-59430-4.
  • Phosphorus homeostasis and related clinical disordersCarpenter TO, Insogna K, Bergwitz C Phosphorus homeostasis and related clinical disorders, PRINCIPLES OF BONE BIOLOGY, 4th edition, edited by John P. Bilezikian, T. John Martin, Thomas L. Clemens and Clifford J. Rosen, Elsevier Inc., 2019, ISBN: 9780128148419
  • Normal Physiology of Bone and Mineral HomeostasisBergwitz C, Wysolmerski J Normal Physiology of Bone and Mineral Homeostasis. Cecil Essentials of Medicine, 10th ed. 2021 ISBN978-0-323-72271-1, Chapter 74, pages 729-738
  • Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.Bergwitz C, Miyamoto KI. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflügers Archiv : European Journal Of Physiology 2019, 471: 149-163. PMID: 30109410, DOI: 10.1007/s00424-018-2184-2.
  • Endocrine regulation of MFS2 by branchless controls phosphate excretion and stone formation in Drosophila renal tubules.Rose E, Lee D, Xiao E, Zhao W, Wee M, Cohen J, Bergwitz C. Endocrine regulation of MFS2 by branchless controls phosphate excretion and stone formation in Drosophila renal tubules. Scientific Reports 2019, 9: 8798. PMID: 31217461, PMCID: PMC6584732, DOI: 10.1038/s41598-019-45269-x.
  • Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria.Chen A, Ro H, Mundra VRR, Joseph K, Brenner D, Carpenter TO, Rizk DV, Bergwitz C. Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria. Kidney International Reports 2019, 4: 1179-1186. PMID: 31440709, PMCID: PMC6698313, DOI: 10.1016/j.ekir.2019.05.004.
  • Transgenic mouse model for conditional expression of influenza hemagglutinin-tagged human SLC20A1/PIT1.Chande S, Ho B, Fetene J, Bergwitz C. Transgenic mouse model for conditional expression of influenza hemagglutinin-tagged human SLC20A1/PIT1. PloS One 2019, 14: e0223052. PMID: 31613887, PMCID: PMC6793878, DOI: 10.1371/journal.pone.0223052.
  • Role of phosphate sensing in bone and mineral metabolism.Chande S, Bergwitz C. Role of phosphate sensing in bone and mineral metabolism. Nature Reviews. Endocrinology 2018, 14: 637-655. PMID: 30218014, PMCID: PMC8607960, DOI: 10.1038/s41574-018-0076-3.
  • Response of Npt2a knockout mice to dietary calcium and phosphorus.Li Y, Caballero D, Ponsetto J, Chen A, Zhu C, Guo J, Demay M, Jüppner H, Bergwitz C. Response of Npt2a knockout mice to dietary calcium and phosphorus. PloS One 2017, 12: e0176232. PMID: 28448530, PMCID: PMC5407772, DOI: 10.1371/journal.pone.0176232.
  • Impaired urinary osteopontin excretion in Npt2a-/- mice.Caballero D, Li Y, Ponsetto J, Zhu C, Bergwitz C. Impaired urinary osteopontin excretion in Npt2a-/- mice. American Journal Of Physiology. Renal Physiology 2017, 312: F77-F83. PMID: 27784695, PMCID: PMC5283892, DOI: 10.1152/ajprenal.00367.2016.
  • Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice.Caballero D, Li Y, Fetene J, Ponsetto J, Chen A, Zhu C, Braddock DT, Bergwitz C. Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice. PloS One 2017, 12: e0180098. PMID: 28704395, PMCID: PMC5509111, DOI: 10.1371/journal.pone.0180098.
  • Hypophosphatemia promotes lower rates of muscle ATP synthesis.Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Hypophosphatemia promotes lower rates of muscle ATP synthesis. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473R.
  • Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal Of The American Society Of Nephrology : JASN 2014, 25: 2366-75. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/ASN.2013101085.
  • Genetic determinants of phosphate response in Drosophila.Bergwitz C, Wee MJ, Sinha S, Huang J, DeRobertis C, Mensah LB, Cohen J, Friedman A, Kulkarni M, Hu Y, Vinayagam A, Schnall-Levin M, Berger B, Perkins LA, Mohr SE, Perrimon N. Genetic determinants of phosphate response in Drosophila. PloS One 2013, 8: e56753. PMID: 23520455, PMCID: PMC3592877, DOI: 10.1371/journal.pone.0056753.
  • Roles of major facilitator superfamily transporters in phosphate response in Drosophila.Bergwitz C, Rasmussen MD, DeRobertis C, Wee MJ, Sinha S, Chen HH, Huang J, Perrimon N. Roles of major facilitator superfamily transporters in phosphate response in Drosophila. PloS One 2012, 7: e31730. PMID: 22359624, PMCID: PMC3280997, DOI: 10.1371/journal.pone.0031730.
  • Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. Bone 2012, 50: 1100-6. PMID: 22387237, PMCID: PMC3322249, DOI: 10.1016/j.bone.2012.02.015.
  • Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. The Journal Of Clinical Endocrinology And Metabolism 2012, 97: E1978-86. PMID: 22865906, PMCID: PMC3462928, DOI: 10.1210/jc.2012-1279.
  • Dietary phosphate modifies lifespan in Drosophila.Bergwitz C. Dietary phosphate modifies lifespan in Drosophila. Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association 2012, 27: 3399-406. PMID: 22942172, DOI: 10.1093/ndt/gfs362.
  • FGF23 and syndromes of abnormal renal phosphate handling.Bergwitz C, Jüppner H. FGF23 and syndromes of abnormal renal phosphate handling. Advances In Experimental Medicine And Biology 2012, 728: 41-64. PMID: 22396161, PMCID: PMC5234086, DOI: 10.1007/978-1-4614-0887-1_3.
  • Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. American Journal Of Medical Genetics. Part A 2011, 155A: 626-33. PMID: 21344632, PMCID: PMC4777326, DOI: 10.1002/ajmg.a.33832.
  • Autoimmune hypocalciuric hypercalcemia unresponsive to glucocorticoid therapy in a patient with blocking autoantibodies against the calcium-sensing receptor.Pallais JC, Kemp EH, Bergwitz C, Kantham L, Slovik DM, Weetman AP, Brown EM. Autoimmune hypocalciuric hypercalcemia unresponsive to glucocorticoid therapy in a patient with blocking autoantibodies against the calcium-sensing receptor. The Journal Of Clinical Endocrinology And Metabolism 2011, 96: 672-80. PMID: 21159843, PMCID: PMC3047232, DOI: 10.1210/jc.2010-1739.
  • An integrative approach to ortholog prediction for disease-focused and other functional studies.Hu Y, Flockhart I, Vinayagam A, Bergwitz C, Berger B, Perrimon N, Mohr SE. An integrative approach to ortholog prediction for disease-focused and other functional studies. BMC Bioinformatics 2011, 12: 357. PMID: 21880147, PMCID: PMC3179972, DOI: 10.1186/1471-2105-12-357.
  • Phosphate sensing.Bergwitz C, Jüppner H. Phosphate sensing. Advances In Chronic Kidney Disease 2011, 18: 132-44. PMID: 21406298, PMCID: PMC3059779, DOI: 10.1053/j.ackd.2011.01.004.
  • Case records of the Massachusetts General Hospital. Case 33-2011. A 56-year-old man with hypophosphatemia.Bergwitz C, Collins MT, Kamath RS, Rosenberg AE. Case records of the Massachusetts General Hospital. Case 33-2011. A 56-year-old man with hypophosphatemia. The New England Journal Of Medicine 2011, 365: 1625-35. PMID: 22029985, PMCID: PMC4907641, DOI: 10.1056/NEJMcpc1104567.
  • Acute down-regulation of sodium-dependent phosphate transporter NPT2a involves predominantly the cAMP/PKA pathway as revealed by signaling-selective parathyroid hormone analogs.Nagai S, Okazaki M, Segawa H, Bergwitz C, Dean T, Potts JT, Mahon MJ, Gardella TJ, Jüppner H. Acute down-regulation of sodium-dependent phosphate transporter NPT2a involves predominantly the cAMP/PKA pathway as revealed by signaling-selective parathyroid hormone analogs. The Journal Of Biological Chemistry 2011, 286: 1618-26. PMID: 21047792, PMCID: PMC3020770, DOI: 10.1074/jbc.M110.198416.
  • Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23.Bergwitz C, Jüppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annual Review Of Medicine 2010, 61: 91-104. PMID: 20059333, PMCID: PMC4777331, DOI: 10.1146/annurev.med.051308.111339.
  • Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis.Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, Sugimoto T, Jüppner H. Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. The Journal Of Clinical Endocrinology And Metabolism 2009, 94: 4267-74. PMID: 19837926, PMCID: PMC2775647, DOI: 10.1210/jc.2009-0961.
  • 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.Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O. 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. Experimental And Clinical Endocrinology & Diabetes : Official Journal, German Society Of Endocrinology [and] German Diabetes Association 2009, 117: 49-56. PMID: 18523928, PMCID: PMC4777409, DOI: 10.1055/s-2008-1076716.
  • Disorders of phosphate homeostasis and tissue mineralisation.Bergwitz C, Jüppner H. Disorders of phosphate homeostasis and tissue mineralisation. Endocrine Development 2009, 16: 133-56. PMID: 19494665, PMCID: PMC3810012, DOI: 10.1159/000223693.
  • Genetic evidence of serum phosphate-independent functions of FGF-23 on bone.Sitara D, Kim S, Razzaque MS, Bergwitz C, Taguchi T, Schüler C, Erben RG, Lanske B. Genetic evidence of serum phosphate-independent functions of FGF-23 on bone. PLoS Genetics 2008, 4: e1000154. PMID: 18688277, PMCID: PMC2483943, DOI: 10.1371/journal.pgen.1000154.
  • A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3.Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K. A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3. Endocrine Practice : Official Journal Of The American College Of Endocrinology And The American Association Of Clinical Endocrinologists 2008, 14: 869-74. PMID: 18996815, PMCID: PMC2773288, DOI: 10.4158/EP.14.7.869.
  • Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors.Uveges TE, Collin-Osdoby P, Cabral WA, Ledgard F, Goldberg L, Bergwitz C, Forlino A, Osdoby P, Gronowicz GA, Marini JC. Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2008, 23: 1983-94. PMID: 18684089, PMCID: PMC2686922, DOI: 10.1359/jbmr.080804.
  • 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.Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. 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. American Journal Of Physiology. Renal Physiology 2008, 295: F371-9. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.
  • NHERF1 mutations and responsiveness of renal parathyroid hormone.Bergwitz C, Bastepe M. NHERF1 mutations and responsiveness of renal parathyroid hormone. The New England Journal Of Medicine 2008, 359: 2615-6; author reply 2616-7. PMID: 19073985, DOI: 10.1056/NEJMc086284.
  • 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.Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. 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. American Journal Of Human Genetics 2006, 78: 179-92. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.
  • Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength.Kozloff KM, Carden A, Bergwitz C, Forlino A, Uveges TE, Morris MD, Marini JC, Goldstein SA. Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2004, 19: 614-22. PMID: 15005849, DOI: 10.1359/JBMR.040111.
  • Cyclic-adenosine 3',5'-monophosphate-stimulated c-fos gene transcription involves distinct calcium pathways in single beta-cells.Schöfl C, Waring M, Bergwitz C, Arseniev L, von zur Muhlen A, Brabant G. Cyclic-adenosine 3',5'-monophosphate-stimulated c-fos gene transcription involves distinct calcium pathways in single beta-cells. Molecular And Cellular Endocrinology 2002, 186: 121-31. PMID: 11850128, DOI: 10.1016/s0303-7207(01)00609-8.
  • A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous alpha1-antitrypsin deficiency.Bergwitz C, Brabant G, Trautwein C, Manns MP. A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous alpha1-antitrypsin deficiency. The American Journal Of Gastroenterology 2002, 97: 1050-2. PMID: 12003388, DOI: 10.1111/j.1572-0241.2002.05628.x.
  • Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells.Bergwitz C, Wendlandt T, Kispert A, Brabant G. Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells. Biochimica Et Biophysica Acta 2001, 1538: 129-40. PMID: 11336784, DOI: 10.1016/s0167-4889(00)00123-3.
  • Familial isolated parathyroid adenoma in a consanguineous family.Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. Familial isolated parathyroid adenoma in a consanguineous family. Journal Of Endocrinological Investigation 2001, 24: 349-55. PMID: 11407655, DOI: 10.1007/BF03343872.
  • Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia.Bergwitz C, Prochnau A, Mayr B, Kramer FJ, Rittierodt M, Berten HL, Hausamen JE, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. Journal Of Inherited Metabolic Disease 2001, 24: 648-56. PMID: 11768584, DOI: 10.1023/a:1012758925617.
  • A versatile chondrogenic rat calvaria cell line R-tTA-24 that permits tetracycline-regulated gene expression.Bergwitz C, Wendlandt T, Pötter E, Glomb I, Gras K, von zur Mühlen A, Brabant G. A versatile chondrogenic rat calvaria cell line R-tTA-24 that permits tetracycline-regulated gene expression. Histochemistry And Cell Biology 2000, 113: 145-50. PMID: 10766267.
  • A G protein-coupled receptor from zebrafish is activated by human parathyroid hormone and not by human or teleost parathyroid hormone-related peptide. Implications for the evolutionary conservation of calcium-regulating peptide hormones.Rubin DA, Hellman P, Zon LI, Lobb CJ, Bergwitz C, Jüppner H. A G protein-coupled receptor from zebrafish is activated by human parathyroid hormone and not by human or teleost parathyroid hormone-related peptide. Implications for the evolutionary conservation of calcium-regulating peptide hormones. The Journal Of Biological Chemistry 1999, 274: 23035-42. PMID: 10438471.
  • The cadherin-catenin system: implications for growth and differentiation of endocrine tissues.Pötter E, Bergwitz C, Brabant G. The cadherin-catenin system: implications for growth and differentiation of endocrine tissues. Endocrine Reviews 1999, 20: 207-39. PMID: 10204118, DOI: 10.1210/edrv.20.2.0362.
  • Identification, functional characterization, and developmental expression of two nonallelic parathyroid hormone (PTH)/PTH-related peptide receptor isoforms in Xenopus laevis (Daudin).Bergwitz C, Klein P, Kohno H, Forman SA, Lee K, Rubin D, Jüppner H. Identification, functional characterization, and developmental expression of two nonallelic parathyroid hormone (PTH)/PTH-related peptide receptor isoforms in Xenopus laevis (Daudin). Endocrinology 1998, 139: 723-32. PMID: 9449646, DOI: 10.1210/endo.139.2.5733.
  • Cloning and characterization of the vitamin D receptor from Xenopus laevis.Li YC, Bergwitz C, Jüppner H, Demay MB. Cloning and characterization of the vitamin D receptor from Xenopus laevis. Endocrinology 1997, 138: 2347-53. PMID: 9165021, DOI: 10.1210/endo.138.6.5210.
  • 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.Bergwitz C, Jusseaume SA, Luck MD, Jüppner H, Gardella TJ. 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. The Journal Of Biological Chemistry 1997, 272: 28861-8. PMID: 9360953.
  • Full activation of chimeric receptors by hybrids between parathyroid hormone and calcitonin. Evidence for a common pattern of ligand-receptor interaction.Bergwitz C, Gardella TJ, Flannery MR, Potts JT, Kronenberg HM, Goldring SR, Jüppner H. Full activation of chimeric receptors by hybrids between parathyroid hormone and calcitonin. Evidence for a common pattern of ligand-receptor interaction. The Journal Of Biological Chemistry 1996, 271: 26469-72. PMID: 8900113.
  • Molecular cloning of complementary DNAs encoding the Xenopus laevis (Daudin) PTH/PTHrP receptorBergwitz C., Klein P, Jüppner H. Molecular cloning of complementary DNAs encoding the Xenopus laevis (Daudin) PTH/PTHrP receptor. In: The comparative endocrinology of calcium regulation. Bristol, UK: J Endocrinology Ltd.;1995. p. 97-102.
  • Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. The Journal Of Clinical Endocrinology And Metabolism 1995, 80: 1611-21. PMID: 7745008, DOI: 10.1210/jcem.80.5.7745008.
  • Human PTH/PTHrP receptor: its role in pseudohypoparathyroidism Type IbSchipani E, Bergwitz C, Kronenberg H M, Segre GV, Jüppner H. Human PTH/PTHrP receptor: its role in pseudohypoparathyroidism Type Ib. Highlights on Molecular and Clinical Endocrinology. 1994:93-96
  • The human PTH/PTHrP receptorSchipani E, Bergwitz C, Kronenberg H M, Segre GV, Jüppner H. The human PTH/PTHrP receptor. Frontiers in Endocrinology. 1994;14:15-20.
  • Polymorphism in exon M7 of the PTHR gene.Schipani E, Hustmyer FG, Bergwitz C, Jüppner H. Polymorphism in exon M7 of the PTHR gene. Human Molecular Genetics 1994, 3: 1210. PMID: 7981709.
  • Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2).Bergwitz C, Abou-Samra AB, Hesch RD, Jüppner H. Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2). Biochimica Et Biophysica Acta 1994, 1222: 447-56. PMID: 8038214.
  • Specific, high-affinity binding sites for angiotensin II on Mycoplasma hyorhinis.Bergwitz C, Madoff S, Abou-Samra AB, Jüppner H. Specific, high-affinity binding sites for angiotensin II on Mycoplasma hyorhinis. Biochemical And Biophysical Research Communications 1991, 179: 1391-9. PMID: 1718269.
  • Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia.Hartley IR, Miller CB, Papadakis GZ, Bergwitz C, Del Rivero J, Blau JE, Florenzano P, Berglund JA, Tassone J, Roszko KL, Moran S, Gafni RI, Isaacs R, Collins MT. Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia. The New England Journal Of Medicine 2020, 383: 1387-1389. PMID: 32905668, PMCID: PMC7561341, DOI: 10.1056/NEJMc2020399.
  • Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone.Dreimane D, Chen A, Bergwitz C. Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone. Therapeutic Advances In Musculoskeletal Disease 2020, 12: 1759720X20912862. PMID: 32963591, PMCID: PMC7488884, DOI: 10.1177/1759720X20912862.
  • Importance of Dietary Phosphorus for Bone Metabolism and Healthy Aging.Serna J, Bergwitz C. Importance of Dietary Phosphorus for Bone Metabolism and Healthy Aging. Nutrients 2020, 12 PMID: 33007883, PMCID: PMC7599912, DOI: 10.3390/nu12103001.
  • FGF23 signalling and physiology.Ho BB, Bergwitz C. FGF23 signalling and physiology. Journal Of Molecular Endocrinology 2021, 66: R23-R32. PMID: 33338030, PMCID: PMC8782161, DOI: 10.1530/JME-20-0178.
  • Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers.Bergwitz C, Eussen SRBM, Janssens PLHR, Visser M, Carpenter TO, van Helvoort A. Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers. Nutrition Research (New York, N.Y.) 2021, 85: 71-83. PMID: 33450668, DOI: 10.1016/j.nutres.2020.11.004.
  • Phosphorus bioaccessibility measured in four amino acid-based formulas using in-vitro batch digestion translates well into phosphorus bioavailability in mice.Chande S, Dijk F, Fetene J, Yannicelli S, Carpenter TO, van Helvoort A, Bergwitz C. Phosphorus bioaccessibility measured in four amino acid-based formulas using in-vitro batch digestion translates well into phosphorus bioavailability in mice. Nutrition (Burbank, Los Angeles County, Calif.) 2021, 89: 111291. PMID: 34111672, PMCID: PMC8588148, DOI: 10.1016/j.nut.2021.111291.
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