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Clemens Bergwitz, M.D.

TitleAssistant Professor of Medicine
InstitutionMassachusetts General Hospital
DepartmentMedicine
AddressMassachusetts General Hospital
Endocrine, Thier 1051
50 Blossom St
Boston MA 02114
Phone617/643-0204
Fax617/726-7543

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. 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(3):e56753.
    View in: PubMed
  2. Bergwitz C. Dietary phosphate modifies lifespan in Drosophila. Nephrol Dial Transplant. 2012 Sep; 27(9):3399-406.
    View in: PubMed
  3. 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. J Clin Endocrinol Metab. 2012 Oct; 97(10):E1978-86.
    View in: PubMed
  4. 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 May; 50(5):1100-6.
    View in: PubMed
  5. 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(2):e31730.
    View in: PubMed
  6. Bergwitz C, Jüppner H. FGF23 and syndromes of abnormal renal phosphate handling. Adv Exp Med Biol. 2012; 728:41-64.
    View in: PubMed
  7. 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. N Engl J Med. 2011 Oct 27; 365(17):1625-35.
    View in: PubMed
  8. 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.
    View in: PubMed
  9. Bergwitz C, Jüppner H. Phosphate sensing. Adv Chronic Kidney Dis. 2011 Mar; 18(2):132-44.
    View in: PubMed
  10. 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. Am J Med Genet A. 2011 Mar; 155A(3):626-33.
    View in: PubMed
  11. 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. J Clin Endocrinol Metab. 2011 Mar; 96(3):672-80.
    View in: PubMed
  12. 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. J Biol Chem. 2011 Jan 14; 286(2):1618-26.
    View in: PubMed
  13. Bergwitz C, Jüppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med. 2010; 61:91-104.
    View in: PubMed
  14. 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. J Clin Endocrinol Metab. 2009 Nov; 94(11):4267-74.
    View in: PubMed
  15. Bergwitz C, Jüppner H. Disorders of phosphate homeostasis and tissue mineralisation. Endocr Dev. 2009; 16:133-56.
    View in: PubMed
  16. Clemens Bergwitz, MD, Charles DeRobertis, Hway H Chen, Adam Friedman, Harald Jueppner, MD1 and Norbert Perrimon, PhD. Role of sodium-phosphate co-transporters in the activation of the MAPK pathway by phosphate. Talk at the American Society of Nephrology meeting, San Diego. 2009; (abstract):F-FC258.
  17. Bergwitz C, Jüppner H. . Disorders of Phosphate Homeostasis and Tissue Mineralisation. Endocr Dev. 2009; 16:133-156.
  18. Bergwitz C, Bastepe M. NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med. 2008 Dec 11; 359(24):2615-6; author reply 2616-7.
    View in: PubMed
  19. 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. J Bone Miner Res. 2008 Dec; 23(12):1983-94.
    View in: PubMed
  20. 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. Endocr Pract. 2008 Oct; 14(7):869-74.
    View in: PubMed
  21. 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 Genet. 2008; 4(8):e1000154.
    View in: PubMed
  22. 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. Exp Clin Endocrinol Diabetes. 2009 Feb; 117(2):49-56.
    View in: PubMed
  23. 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. Am J Physiol Renal Physiol. 2008 Aug; 295(2):F371-9.
    View in: PubMed
  24. D.Sitara, C. Bergwitz, S. Kim, R.G. Erben, H. Jüppner, and B. Lanske . Phosphate independent effects of Fgf-23 on skeletogenesis. American Society of Bone and Mineral Research, Honolulu. 2007.
  25. Jaureguiberry G, Ken Solt, Thomas O Carpenter, Stuart Forman, Harald Jüppner, Clemens Bergwitz. Threonine 137 Is an Important Determinant of Sodium-Phosphate Co-transport in Human NaPi-IIc. American Society of Bone and Mineral Research, Honolulu (talk). 2007.
  26. Bergwitz C, Kremke B, Bounoutas G, Hiort O, Insogna K, Jüppner H . Hypophosphatemic Rickets with Hypercalciuria (HHRH) Can Be Associated with Renal Stones. American Society for Bone and Mineral Research, Philadelphia, PA. 2006; SU419.
  27. Sitara D, Bergwitz C, Razzaque MS, Juppner H, Lanske BKM . In Vivo Molecular Mechanisms of Abnormal Homeostasis in Fgf-23 Null Animals. American Society for Bone and Mineral Research, Philadelphia, PA. 2006; SA158.
  28. C Bergwitz, B Kremke, P Phulwani, G Bounoutas, O Hiort, K Insogna, T O Carpenter, EEstrada and H Jueppner. Novel NaPi-IIc mutations as the cause of hypophosphatemic rickets with hypercalciuria (HHRH) and renal stones. American Society of Nephrology Meeting, San Diego, CA. 2006.
  29. Clemens Bergwitz , Nicole M Roslin , Martin Tieder , J C Loredo-Osti , Murat Bastepe , Hilal Abu- Zahra , Danielle Frappier , Kelly Burkett , Thomas O Carpenter , Donald Anderson , Michèle Garabédian , Isabelle Sermet , T. Mary Fujiwara , Kenneth Morgan , Harriet S Tenenhouse and Harald Jüppner. Hereditary Hypophosphatemic Rickets with Hypercalciuria is a Monogenic Disorder caused by Biallelic Loss-of-Function Mutations in NaPi-IIc (SLC34A3) Predicting an Important Role of this Renal Sodium-Phosphate Co-Transporter in Human Phosphate Homeostasis. Endocrine Society, Boston, 2006 (talk). 2006.
  30. 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. Am J Hum Genet. 2006 Feb; 78(2):179-92.
    View in: PubMed
  31. Clemens Bergwitz, Nicky Roslin, Martin Tieder, Hilal Abu-Zahra, Mary Fujiwara, Kenneth Morgan, Harriet S. Tenenhouse, Harald Jüppner. Loss-of-function mutations in the renal sodium-phosphate cotransporter NaPi-IIc (SLC34A3) are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and idiopathic hypercalciuria (IH). American Society for Bone and Mineral Research, Nashville, TE (plenary talk). 2005.
  32. Clemens Bergwitz, Santanu Banerjee, Hilal Abu-Zahra, Akimitsu Miyauchi, Harald Jüppner. A homozygous missense mutation S129P in FGF-23 causes tumoral calcinosis with hyperphosphatemia. American Society for Bone and Mineral Research, Nashville, TE (plenary poster). 2005.
  33. 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. J Bone Miner Res. 2004 Apr; 19(4):614-22.
    View in: PubMed
  34. Bergwitz C*, Kozloff K M*, Uveges T E, Chen T, Morris M D, Gronowicz G, Ledgard F, Goldstein S A, Marini J C (*co-first-autors) . Homozygosity for a dominant mutation in col1a1 (brtl) restores pup survival, bone mechanics, histology and collagen fibril diameter to near–wt values, in comparison to the moderately severe bone disease (type IV osteogenesis imperfecta) present in heterozygous brtl mice. American Society for Bone and Mineral Research, Seattle, WA. 2004.
  35. 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. Am J Gastroenterol. 2002 Apr; 97(4):1050-2.
    View in: PubMed
  36. 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. Mol Cell Endocrinol. 2002 Jan 15; 186(1):121-31.
    View in: PubMed
  37. 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. J Inherit Metab Dis. 2001 Nov; 24(6):648-56.
    View in: PubMed
  38. Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. Familial isolated parathyroid adenoma in a consanguineous family. J Endocrinol Invest. 2001 May; 24(5):349-55.
    View in: PubMed
  39. Bergwitz C, Wendlandt T, Kispert A, Brabant G. Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells. Biochim Biophys Acta. 2001 Apr 23; 1538(2-3):129-40.
    View in: PubMed
  40. 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. Histochem Cell Biol. 2000 Feb; 113(2):145-50.
    View in: PubMed
  41. 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. J Biol Chem. 1999 Aug 13; 274(33):23035-42.
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  42. Pötter E, Bergwitz C, Brabant G. The cadherin-catenin system: implications for growth and differentiation of endocrine tissues. Endocr Rev. 1999 Apr; 20(2):207-39.
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  43. 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 Feb; 139(2):723-32.
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  44. 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. J Biol Chem. 1997 Nov 14; 272(46):28861-8.
    View in: PubMed
  45. Li YC, Bergwitz C, Jüppner H, Demay MB. Cloning and characterization of the vitamin D receptor from Xenopus laevis. Endocrinology. 1997 Jun; 138(6):2347-53.
    View in: PubMed
  46. 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. J Biol Chem. 1996 Oct 25; 271(43):26469-72.
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  47. Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J, et al. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab. 1995 May; 80(5):1611-21.
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  48. Bergwitz C., Klein P, Jüppner H. Molecular cloning of complementary DNAs encoding the Xenopus laevis (Daudin) PTH/PTHrP receptor. The comparative endocrinology of calcium regulation. 1995; 97-102.
  49. Bergwitz C, Abou-Samra AB, Hesch RD, Jüppner H. Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2). Biochim Biophys Acta. 1994 Jul 21; 1222(3):447-56.
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  50. Schipani E, Hustmyer FG, Bergwitz C, Jüppner H. Polymorphism in exon M7 of the PTHR gene. Hum Mol Genet. 1994 Jul; 3(7):1210.
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  51. Schipani 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.
  52. Schipani E, Bergwitz C, Kronenberg H M, Segre GV, Jüppner H. The human PTH/PTHrP receptor. Frontiers in Endocrinology. 1994; 14:15-20.
  53. Bergwitz C, Madoff S, Abou-Samra AB, Jüppner H. Specific, high-affinity binding sites for angiotensin II on Mycoplasma hyorhinis. Biochem Biophys Res Commun. 1991 Sep 30; 179(3):1391-9.
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