- Yale Bone CenterDana Clinic Building789 Howard AvenueNew Haven, CT 06519
Clemens Bergwitz, MD
Biography
Clemens W.H. Bergwitz, MD, is an endocrinologist at Yale Medicine who sees patients with hypophosphatemic disorders, osteoporosis, primary hyperparathyroidism, hyperthyroidism, thyroid nodules, and hypogonadism, as well as adrenal and general endocrine disorders.
Dr. Bergwitz’s characterizes the endocrine system as the human body’s own data messaging system. “It sends information to regulate some of our body’s most critical functions,” he says. In addition to treating patients, Dr. Bergwitz conducts research on many of these conditions, and his lab has worked on projects that test various therapies for hereditary endocrine disorders. “I am really a physician-scientist. My patients inspire my research, which eventually leads back to the bedside,” he says.
Dr. Bergwitz believes that patients should be the expert of their own illness. He strives to explain conditions and treatments in plain language so that patients not only understand their disorder, but also the biological mechanisms behind it. “I’m interested in providing my patients with the information they need to not only understand their condition, but to empower them to take good care of themselves,” he says.
Titles
- Associate Professor of Medicine (Endocrinology)
Education & Training
- FellowshipMassachusetts General Hospital (2006)
- ResidencyMassachusetts General Hospital (2003)
- FellowshipNICHD, NIH (2001)
- ResidencyHannover Medical School (1999)
- Research FellowshipMassachusetts General Hospital and Harvard Medical School (1996)
- MDHannover Medical School (1993)
- BAWilhelm Gymnasium, Chemistry and Ancient Greek (1986)
Languages Spoken
- English
- Deutsch (German)
Additional Information
- Yale Center for Clinical Investigation Pilot on "The impact of phosphate metabolism on healthy aging": (2019)
- O’Brien Center Pilot on “Role of Pyrophosphate in Nephrocalcinosis of Npt2a-/- Mice”: (2016), (2017), (2018)
- Young Investigator Award on “Role of the renal sodium-phosphate cotransporter NaPi-IIc in phosphate homeostasis”: American Society for Clinical Investigation (2007)
- Young Investigator Award on “Role of the renal sodium-phosphate cotransporter NaPi-IIc in phosphate homeostasis”: National Kidney Foundation (2007)
- Young Investigator Award - “Role of the renal sodium-phosphate cotransporter NaPi-IIc in phosphate homeostasis”: National Kidney Foundation (2007)
- Von-Recklinghausen-Preis: German Endocrine Society (1996)
- The International Society for Clinical Densitometry, Certified Clinical Densitometrist (2015)
- AB of Internal Medicine, Endocrinology Diabetes & Metabolism (2005, recertified: 2016)
- AB of Internal Medicine, Internal Medicine (2004, recertified: 2016)
- University of Minnesota (2024 - Present): Interview by Emilia Zangla and Anne Kouri on "HHRH, diagnosis and treatment"
- Pharmacy Practice News, McMahon Publishing Group (2024 - Present): Interview with Marcus Banks, Pharmacy Practice News, McMahon Publishing Group, on recent Kidney International publication: An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
- Scientific American (2024): Interview with Meryl Davids Landau, Award-winning independent journalist, MerylDavidsLandau.com, on “Role of Vitamin D for bone health”
- Alexion/Astra Seneca, Boston, MA, USA (2024 - Present): Advisor
- Gordon Conference on Physiology, Biology and Pathology of Phosphate (2023): Session Chair
- Barron's (2022): Interview with Neal Templin from Barron's on what seniors can do to avoid osteoporosis: “Osteoporosis Affects Many. What to Know—and How to Prevent It.”
- Pharmacosmos Therapeutics Inc., NJ, USA (2022 - Present): Advisor
- Deutsche Forschungsgemeinschaft (DFG) (2021 - Present): Ad-hoc Member
- French National Research Agency (2021 - Present): Ad-hoc reviewer
- Bayer AG, Berlin, Germany (2020 - 2022): Advisor
- Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076. Kidney International 2024, 106: 159. PMID: 38906648, DOI: 10.1016/j.kint.2024.05.005.
- Sakamoto E, Kitase Y, Fitt A, Zhu Z, Awad K, Brotto M, White K, Welc S, Bergwitz C, Bonewald L. Both enantiomers of β-aminoisobutyric acid BAIBA regulate Fgf23 via MRGPRD receptor by activating distinct signaling pathways in osteocytes. Cell Reports 2024, 43: 114397. PMID: 38935499, PMCID: PMC11350516, DOI: 10.1016/j.celrep.2024.114397.
- Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Kidney International 2024, 105: 1058-1076. PMID: 38364990, PMCID: PMC11106756, DOI: 10.1016/j.kint.2024.01.031.
- Bergwitz, C Clinical Keys Tumor-induced Osteomalacia, Treatment, Elsevier, 2024, https://www.elsevier.com/products/clinicalkey
- Dodamani M, Memon S, Karlekar M, Lila A, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil V, Shah N, Bergwitz C, Bandgar T. Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review. Calcified Tissue International 2023, 114: 137-146. PMID: 37981601, DOI: 10.1007/s00223-023-01156-2.
- Sangadala S, Shore E, Xu M, Bergwitz C, Lozano‐Calderon S, Lin A, Boden S, Kaplan F. Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein‐1 (LMP‐1). American Journal Of Medical Genetics Part A 2023, 191: 2164-2174. PMID: 37218523, DOI: 10.1002/ajmg.a.63304.
- Bergwitz, C Clinical Keys Tumor-induced Osteomalacia, Diagnosis, Elsevier, 2023, https://www.elsevier.com/products/clinicalkey
- Bergwitz, C Clinical Keys X-Linked Hypophosphatemic Rickets, Treatment, Elsevier, 2022, https://www.elsevier.com/products/clinicalkey
- Bergwitz, C Clinical Keys X-Linked Hypophosphatemic Rickets, Diagnosis, Elsevier, 2022
- 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 2021, 89: 111291. PMID: 34111672, PMCID: PMC8588148, DOI: 10.1016/j.nut.2021.111291.
- 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.
- 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
- 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 2020, 85: 71-83. PMID: 33450668, DOI: 10.1016/j.nutres.2020.11.004.
- Serna J, Bergwitz C. Importance of Dietary Phosphorus for Bone Metabolism and Healthy Aging. Nutrients 2020, 12: 3001. PMID: 33007883, PMCID: PMC7599912, DOI: 10.3390/nu12103001.
- 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. New England Journal Of Medicine 2020, 383: 1387-1389. PMID: 32905668, PMCID: PMC7561341, DOI: 10.1056/nejmc2020399.
- 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.
- Carpenter T, Bergwitz C, Insogna K. Chapter 20 Phosphorus homeostasis and related disorders. 2020, 469-507. DOI: 10.1016/b978-0-12-814841-9.00020-8.
- 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.
- 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.
- 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.
- 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.
- 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
- 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.
- Bergwitz C, Miyamoto KI. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflügers Archiv - European Journal Of Physiology 2018, 471: 149-163. PMID: 30109410, DOI: 10.1007/s00424-018-2184-2.
- 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.
- 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.
- Caballero D, Li Y, Ponsetto J, Zhu C, Bergwitz C. Impaired urinary osteopontin excretion in Npt2a−/− mice. American Journal Of Physiology. Renal Physiology 2016, 312: f77-f83. PMID: 27784695, PMCID: PMC5283892, DOI: 10.1152/ajprenal.00367.2016.
- 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. The FASEB Journal 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473r.
- 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 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.
- 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.
- Bergwitz C. Dietary phosphate modifies lifespan in Drosophila. Nephrology Dialysis Transplantation 2012, 27: 3399-3406. PMID: 22942172, DOI: 10.1093/ndt/gfs362.
- 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 & Metabolism 2012, 97: e1978-e1986. PMID: 22865906, PMCID: PMC3462928, DOI: 10.1210/jc.2012-1279.
- Yu Y, Sanderson S, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Corrigendum to “Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred” [Bone 50 (2012) 1100–1106]. Bone 2012, 50: 1206. DOI: 10.1016/j.bone.2012.03.024.
- 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: 1100-1106. PMID: 22387237, PMCID: PMC3322249, DOI: 10.1016/j.bone.2012.02.015.
- 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.
- Bergwitz C, Jüppner H. Chapter 7 Phosphate Homeostasis Regulatory Mechanisms. 2012, 141-161. DOI: 10.1016/b978-0-12-382040-2.10007-3.
- 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.
- Bergwitz C, Collins MT, Kamath RS, Rosenberg AE. Case 33-2011 — A 56-Year-Old Man with Hypophosphatemia. New England Journal Of Medicine 2011, 365: 1625-1635. PMID: 22029985, PMCID: PMC4907641, DOI: 10.1056/nejmcpc1104567.
- 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.
- Bergwitz C, Jüppner H. Phosphate Sensing. Advances In Kidney Disease And Health 2011, 18: 132-144. PMID: 21406298, PMCID: PMC3059779, DOI: 10.1053/j.ackd.2011.01.004.
- 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, 155: 626-633. PMID: 21344632, PMCID: PMC4777326, DOI: 10.1002/ajmg.a.33832.
- 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 & Metabolism 2010, 96: 672-680. PMID: 21159843, PMCID: PMC3047232, DOI: 10.1210/jc.2010-1739.
- 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. Journal Of Biological Chemistry 2010, 286: 1618-1626. PMID: 21047792, PMCID: PMC3020770, DOI: 10.1074/jbc.m110.198416.
- 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.
- 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 & Metabolism 2009, 94: 4267-4274. PMID: 19837926, PMCID: PMC2775647, DOI: 10.1210/jc.2009-0961.
- Bergwitz C, Jüppner H. Disorders of Phosphate Homeostasis and Tissue Mineralisation. Endocrine Development 2009, 16: 133-156. PMID: 19494665, PMCID: PMC3810012, DOI: 10.1159/000223693.
- Bergwitz C, Bastepe M. NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone. New England Journal Of Medicine 2008, 359: 2615-2617. PMID: 19073985, DOI: 10.1056/nejmc086284.
- 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 2008, 23: 1983-1994. PMID: 18684089, PMCID: PMC2686922, DOI: 10.1359/jbmr.080804.
- 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 2008, 14: 869-874. PMID: 18996815, PMCID: PMC2773288, DOI: 10.4158/ep.14.7.869.
- 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.
- 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-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.
- Bergwitz C, Jaureguiberry G, Carpenter T, Forman S, Jüppner H. 25: Functional Analysis of Human Mutations in NAPI-IIC Reveals Important Residues for Surface Expression and Sodium-Phosphate Co-Transport. American Journal Of Kidney Diseases 2008, 51: b34. DOI: 10.1053/j.ajkd.2008.02.030.
- Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Jüppner 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 2005, 78: 179-192. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.
- 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 2004, 19: 614-622. PMID: 15005849, DOI: 10.1359/jbmr.040111.
- Bergwitz C, Trautwein C, Brabant G, Manns MP. A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-antitrypsin deficiency. The American Journal Of Gastroenterology 2002, 97: 1050. PMID: 12003388, DOI: 10.1111/j.1572-0241.2002.05628.x.
- Schöfl C, Waring M, Bergwitz C, Arseniev L, von zur Mühlen A, Brabant G. Cyclic-adenosine 3′,5′-monophosphate-stimulated c-fos gene transcription involves distinct calcium pathways in single β-cells. Molecular And Cellular Endocrinology 2002, 186: 121-131. PMID: 11850128, DOI: 10.1016/s0303-7207(01)00609-8.
- Bergwitz C, Prochnau A, Mayr B, Kramer F, Rittierodt M, Berten H, Hausamen J, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. Journal Of Inherited Metabolic Disease 2001, 24: 648-656. PMID: 11768584, DOI: 10.1023/a:1012758925617.
- Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. Familial isolated parathyroid adenoma in a consanguineous family. Journal Of Endocrinological Investigation 2001, 24: 349-355. PMID: 11407655, DOI: 10.1007/bf03343872.
- 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: 129-140. PMID: 11336784, DOI: 10.1016/s0167-4889(00)00123-3.
- 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: 145-150. PMID: 10766267, DOI: 10.1007/s004180050017.
- Rubin D, Hellman P, Zon L, Lobb C, 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*. Journal Of Biological Chemistry 1999, 274: 23035-23042. PMID: 10438471, DOI: 10.1074/jbc.274.33.23035.
- Pötter E, Bergwitz C, Brabant G. The Cadherin-Catenin System: Implications for Growth and Differentiation of Endocrine Tissues. Endocrine Reviews 1999, 20: 207-239. PMID: 10204118, DOI: 10.1210/edrv.20.2.0362.
- Bergwitz C, Klein P, Kohno H, Forman S, 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: 723-732. DOI: 10.1210/en.139.2.723.
- 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.
- Bergwitz C, Jusseaume S, Luck M, Jüppner H, Gardella T. 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*. Journal Of Biological Chemistry 1997, 272: 28861-28868. PMID: 9360953, DOI: 10.1074/jbc.272.46.28861.
- Li Y, Bergwitz C, Jüppner H, Demay M. Cloning and Characterization of the Vitamin D Receptor from Xenopus laevis*. Endocrinology 1997, 138: 2347-2353. DOI: 10.1210/en.138.6.2347.
- Li Y, Bergwitz C, Jüppner H, Demay M. 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.
- Bergwitz C, Gardella T, Flannery M, Potts J, Kronenberg H, Goldring S, Jüppner H. Full Activation of Chimeric Receptors by Hybrids between Parathyroid Hormone and Calcitonin EVIDENCE FOR A COMMON PATTERN OF LIGAND-RECEPTOR INTERACTION*. Journal Of Biological Chemistry 1996, 271: 26469-26472. PMID: 8900113, DOI: 10.1074/jbc.271.43.26469.
- 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 & Metabolism 1995, 80: 1611-1621. PMID: 7745008, DOI: 10.1210/jcem.80.5.7745008.
- 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.
- Bergwitz C, Abou-Samra A, Hesch R, Jüppner H. Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2). Biochimica Et Biophysica Acta 1994, 1222: 447-456. PMID: 8038214, DOI: 10.1016/0167-4889(94)90053-1.
- Schipani E, Hustmyer FG, Bergwitz C, Jūppner H. Polymorphism in exon M7 of the PTHR gene. Human Molecular Genetics 1994, 3: 1210-1210. PMID: 7981709, DOI: 10.1093/hmg/3.7.1210-a.
- 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.
- Bergwitz C, Madoff S, Abou-Samra A, Ju¨ppner H. Specific, high-affinity binding sites for angiotensin II on Mycoplasma hyorhinis. Biochemical And Biophysical Research Communications 1991, 179: 1391-1399. PMID: 1718269, DOI: 10.1016/0006-291x(91)91727-t.
- Yale Bone CenterDana Clinic Building789 Howard AvenueNew Haven, CT 06519
Biography
Clemens W.H. Bergwitz, MD, is an endocrinologist at Yale Medicine who sees patients with hypophosphatemic disorders, osteoporosis, primary hyperparathyroidism, hyperthyroidism, thyroid nodules, and hypogonadism, as well as adrenal and general endocrine disorders.
Dr. Bergwitz’s characterizes the endocrine system as the human body’s own data messaging system. “It sends information to regulate some of our body’s most critical functions,” he says. In addition to treating patients, Dr. Bergwitz conducts research on many of these conditions, and his lab has worked on projects that test various therapies for hereditary endocrine disorders. “I am really a physician-scientist. My patients inspire my research, which eventually leads back to the bedside,” he says.
Dr. Bergwitz believes that patients should be the expert of their own illness. He strives to explain conditions and treatments in plain language so that patients not only understand their disorder, but also the biological mechanisms behind it. “I’m interested in providing my patients with the information they need to not only understand their condition, but to empower them to take good care of themselves,” he says.
Titles
- Associate Professor of Medicine (Endocrinology)
Education & Training
- FellowshipMassachusetts General Hospital (2006)
- ResidencyMassachusetts General Hospital (2003)
- FellowshipNICHD, NIH (2001)
- ResidencyHannover Medical School (1999)
- Research FellowshipMassachusetts General Hospital and Harvard Medical School (1996)
- MDHannover Medical School (1993)
- BAWilhelm Gymnasium, Chemistry and Ancient Greek (1986)
Languages Spoken
- English
- Deutsch (German)
Additional Information
- Yale Center for Clinical Investigation Pilot on "The impact of phosphate metabolism on healthy aging": (2019)
- O’Brien Center Pilot on “Role of Pyrophosphate in Nephrocalcinosis of Npt2a-/- Mice”: (2016), (2017), (2018)
- Young Investigator Award on “Role of the renal sodium-phosphate cotransporter NaPi-IIc in phosphate homeostasis”: American Society for Clinical Investigation (2007)
- Young Investigator Award on “Role of the renal sodium-phosphate cotransporter NaPi-IIc in phosphate homeostasis”: National Kidney Foundation (2007)
- Young Investigator Award - “Role of the renal sodium-phosphate cotransporter NaPi-IIc in phosphate homeostasis”: National Kidney Foundation (2007)
- Von-Recklinghausen-Preis: German Endocrine Society (1996)
- The International Society for Clinical Densitometry, Certified Clinical Densitometrist (2015)
- AB of Internal Medicine, Endocrinology Diabetes & Metabolism (2005, recertified: 2016)
- AB of Internal Medicine, Internal Medicine (2004, recertified: 2016)
- University of Minnesota (2024 - Present): Interview by Emilia Zangla and Anne Kouri on "HHRH, diagnosis and treatment"
- Pharmacy Practice News, McMahon Publishing Group (2024 - Present): Interview with Marcus Banks, Pharmacy Practice News, McMahon Publishing Group, on recent Kidney International publication: An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
- Scientific American (2024): Interview with Meryl Davids Landau, Award-winning independent journalist, MerylDavidsLandau.com, on “Role of Vitamin D for bone health”
- Alexion/Astra Seneca, Boston, MA, USA (2024 - Present): Advisor
- Gordon Conference on Physiology, Biology and Pathology of Phosphate (2023): Session Chair
- Barron's (2022): Interview with Neal Templin from Barron's on what seniors can do to avoid osteoporosis: “Osteoporosis Affects Many. What to Know—and How to Prevent It.”
- Pharmacosmos Therapeutics Inc., NJ, USA (2022 - Present): Advisor
- Deutsche Forschungsgemeinschaft (DFG) (2021 - Present): Ad-hoc Member
- French National Research Agency (2021 - Present): Ad-hoc reviewer
- Bayer AG, Berlin, Germany (2020 - 2022): Advisor
- Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076. Kidney International 2024, 106: 159. PMID: 38906648, DOI: 10.1016/j.kint.2024.05.005.
- Sakamoto E, Kitase Y, Fitt A, Zhu Z, Awad K, Brotto M, White K, Welc S, Bergwitz C, Bonewald L. Both enantiomers of β-aminoisobutyric acid BAIBA regulate Fgf23 via MRGPRD receptor by activating distinct signaling pathways in osteocytes. Cell Reports 2024, 43: 114397. PMID: 38935499, PMCID: PMC11350516, DOI: 10.1016/j.celrep.2024.114397.
- Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Kidney International 2024, 105: 1058-1076. PMID: 38364990, PMCID: PMC11106756, DOI: 10.1016/j.kint.2024.01.031.
- Bergwitz, C Clinical Keys Tumor-induced Osteomalacia, Treatment, Elsevier, 2024, https://www.elsevier.com/products/clinicalkey
- Dodamani M, Memon S, Karlekar M, Lila A, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil V, Shah N, Bergwitz C, Bandgar T. Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review. Calcified Tissue International 2023, 114: 137-146. PMID: 37981601, DOI: 10.1007/s00223-023-01156-2.
- Sangadala S, Shore E, Xu M, Bergwitz C, Lozano‐Calderon S, Lin A, Boden S, Kaplan F. Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein‐1 (LMP‐1). American Journal Of Medical Genetics Part A 2023, 191: 2164-2174. PMID: 37218523, DOI: 10.1002/ajmg.a.63304.
- Bergwitz, C Clinical Keys Tumor-induced Osteomalacia, Diagnosis, Elsevier, 2023, https://www.elsevier.com/products/clinicalkey
- Bergwitz, C Clinical Keys X-Linked Hypophosphatemic Rickets, Treatment, Elsevier, 2022, https://www.elsevier.com/products/clinicalkey
- Bergwitz, C Clinical Keys X-Linked Hypophosphatemic Rickets, Diagnosis, Elsevier, 2022
- 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 2021, 89: 111291. PMID: 34111672, PMCID: PMC8588148, DOI: 10.1016/j.nut.2021.111291.
- 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.
- 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
- 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 2020, 85: 71-83. PMID: 33450668, DOI: 10.1016/j.nutres.2020.11.004.
- Serna J, Bergwitz C. Importance of Dietary Phosphorus for Bone Metabolism and Healthy Aging. Nutrients 2020, 12: 3001. PMID: 33007883, PMCID: PMC7599912, DOI: 10.3390/nu12103001.
- 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. New England Journal Of Medicine 2020, 383: 1387-1389. PMID: 32905668, PMCID: PMC7561341, DOI: 10.1056/nejmc2020399.
- 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.
- Carpenter T, Bergwitz C, Insogna K. Chapter 20 Phosphorus homeostasis and related disorders. 2020, 469-507. DOI: 10.1016/b978-0-12-814841-9.00020-8.
- 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.
- 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.
- 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.
- 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.
- 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
- 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.
- Bergwitz C, Miyamoto KI. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflügers Archiv - European Journal Of Physiology 2018, 471: 149-163. PMID: 30109410, DOI: 10.1007/s00424-018-2184-2.
- 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.
- 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.
- Caballero D, Li Y, Ponsetto J, Zhu C, Bergwitz C. Impaired urinary osteopontin excretion in Npt2a−/− mice. American Journal Of Physiology. Renal Physiology 2016, 312: f77-f83. PMID: 27784695, PMCID: PMC5283892, DOI: 10.1152/ajprenal.00367.2016.
- 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. The FASEB Journal 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473r.
- 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 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.
- 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.
- Bergwitz C. Dietary phosphate modifies lifespan in Drosophila. Nephrology Dialysis Transplantation 2012, 27: 3399-3406. PMID: 22942172, DOI: 10.1093/ndt/gfs362.
- 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 & Metabolism 2012, 97: e1978-e1986. PMID: 22865906, PMCID: PMC3462928, DOI: 10.1210/jc.2012-1279.
- Yu Y, Sanderson S, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Corrigendum to “Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred” [Bone 50 (2012) 1100–1106]. Bone 2012, 50: 1206. DOI: 10.1016/j.bone.2012.03.024.
- 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: 1100-1106. PMID: 22387237, PMCID: PMC3322249, DOI: 10.1016/j.bone.2012.02.015.
- 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.
- Bergwitz C, Jüppner H. Chapter 7 Phosphate Homeostasis Regulatory Mechanisms. 2012, 141-161. DOI: 10.1016/b978-0-12-382040-2.10007-3.
- 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.
- Bergwitz C, Collins MT, Kamath RS, Rosenberg AE. Case 33-2011 — A 56-Year-Old Man with Hypophosphatemia. New England Journal Of Medicine 2011, 365: 1625-1635. PMID: 22029985, PMCID: PMC4907641, DOI: 10.1056/nejmcpc1104567.
- 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.
- Bergwitz C, Jüppner H. Phosphate Sensing. Advances In Kidney Disease And Health 2011, 18: 132-144. PMID: 21406298, PMCID: PMC3059779, DOI: 10.1053/j.ackd.2011.01.004.
- 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, 155: 626-633. PMID: 21344632, PMCID: PMC4777326, DOI: 10.1002/ajmg.a.33832.
- 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 & Metabolism 2010, 96: 672-680. PMID: 21159843, PMCID: PMC3047232, DOI: 10.1210/jc.2010-1739.
- 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. Journal Of Biological Chemistry 2010, 286: 1618-1626. PMID: 21047792, PMCID: PMC3020770, DOI: 10.1074/jbc.m110.198416.
- 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.
- 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 & Metabolism 2009, 94: 4267-4274. PMID: 19837926, PMCID: PMC2775647, DOI: 10.1210/jc.2009-0961.
- Bergwitz C, Jüppner H. Disorders of Phosphate Homeostasis and Tissue Mineralisation. Endocrine Development 2009, 16: 133-156. PMID: 19494665, PMCID: PMC3810012, DOI: 10.1159/000223693.
- Bergwitz C, Bastepe M. NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone. New England Journal Of Medicine 2008, 359: 2615-2617. PMID: 19073985, DOI: 10.1056/nejmc086284.
- 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 2008, 23: 1983-1994. PMID: 18684089, PMCID: PMC2686922, DOI: 10.1359/jbmr.080804.
- 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 2008, 14: 869-874. PMID: 18996815, PMCID: PMC2773288, DOI: 10.4158/ep.14.7.869.
- 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.
- 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-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.
- Bergwitz C, Jaureguiberry G, Carpenter T, Forman S, Jüppner H. 25: Functional Analysis of Human Mutations in NAPI-IIC Reveals Important Residues for Surface Expression and Sodium-Phosphate Co-Transport. American Journal Of Kidney Diseases 2008, 51: b34. DOI: 10.1053/j.ajkd.2008.02.030.
- Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Jüppner 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 2005, 78: 179-192. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.
- 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 2004, 19: 614-622. PMID: 15005849, DOI: 10.1359/jbmr.040111.
- Bergwitz C, Trautwein C, Brabant G, Manns MP. A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-antitrypsin deficiency. The American Journal Of Gastroenterology 2002, 97: 1050. PMID: 12003388, DOI: 10.1111/j.1572-0241.2002.05628.x.
- Schöfl C, Waring M, Bergwitz C, Arseniev L, von zur Mühlen A, Brabant G. Cyclic-adenosine 3′,5′-monophosphate-stimulated c-fos gene transcription involves distinct calcium pathways in single β-cells. Molecular And Cellular Endocrinology 2002, 186: 121-131. PMID: 11850128, DOI: 10.1016/s0303-7207(01)00609-8.
- Bergwitz C, Prochnau A, Mayr B, Kramer F, Rittierodt M, Berten H, Hausamen J, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. Journal Of Inherited Metabolic Disease 2001, 24: 648-656. PMID: 11768584, DOI: 10.1023/a:1012758925617.
- Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. Familial isolated parathyroid adenoma in a consanguineous family. Journal Of Endocrinological Investigation 2001, 24: 349-355. PMID: 11407655, DOI: 10.1007/bf03343872.
- 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: 129-140. PMID: 11336784, DOI: 10.1016/s0167-4889(00)00123-3.
- 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: 145-150. PMID: 10766267, DOI: 10.1007/s004180050017.
- Rubin D, Hellman P, Zon L, Lobb C, 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*. Journal Of Biological Chemistry 1999, 274: 23035-23042. PMID: 10438471, DOI: 10.1074/jbc.274.33.23035.
- Pötter E, Bergwitz C, Brabant G. The Cadherin-Catenin System: Implications for Growth and Differentiation of Endocrine Tissues. Endocrine Reviews 1999, 20: 207-239. PMID: 10204118, DOI: 10.1210/edrv.20.2.0362.
- Bergwitz C, Klein P, Kohno H, Forman S, 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: 723-732. DOI: 10.1210/en.139.2.723.
- 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.
- Bergwitz C, Jusseaume S, Luck M, Jüppner H, Gardella T. 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*. Journal Of Biological Chemistry 1997, 272: 28861-28868. PMID: 9360953, DOI: 10.1074/jbc.272.46.28861.
- Li Y, Bergwitz C, Jüppner H, Demay M. Cloning and Characterization of the Vitamin D Receptor from Xenopus laevis*. Endocrinology 1997, 138: 2347-2353. DOI: 10.1210/en.138.6.2347.
- Li Y, Bergwitz C, Jüppner H, Demay M. 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.
- Bergwitz C, Gardella T, Flannery M, Potts J, Kronenberg H, Goldring S, Jüppner H. Full Activation of Chimeric Receptors by Hybrids between Parathyroid Hormone and Calcitonin EVIDENCE FOR A COMMON PATTERN OF LIGAND-RECEPTOR INTERACTION*. Journal Of Biological Chemistry 1996, 271: 26469-26472. PMID: 8900113, DOI: 10.1074/jbc.271.43.26469.
- 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 & Metabolism 1995, 80: 1611-1621. PMID: 7745008, DOI: 10.1210/jcem.80.5.7745008.
- 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.
- Bergwitz C, Abou-Samra A, Hesch R, Jüppner H. Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2). Biochimica Et Biophysica Acta 1994, 1222: 447-456. PMID: 8038214, DOI: 10.1016/0167-4889(94)90053-1.
- Schipani E, Hustmyer FG, Bergwitz C, Jūppner H. Polymorphism in exon M7 of the PTHR gene. Human Molecular Genetics 1994, 3: 1210-1210. PMID: 7981709, DOI: 10.1093/hmg/3.7.1210-a.
- 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.
- Bergwitz C, Madoff S, Abou-Samra A, Ju¨ppner H. Specific, high-affinity binding sites for angiotensin II on Mycoplasma hyorhinis. Biochemical And Biophysical Research Communications 1991, 179: 1391-1399. PMID: 1718269, DOI: 10.1016/0006-291x(91)91727-t.
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- Yale Bone CenterDana Clinic Building789 Howard AvenueNew Haven, CT 06519