Publications

• Phenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies.Zhu Z, Bergwitz C. Kidney Int. 2025 Jan. PMID: 39746740.
• Both enantiomers of β-aminoisobutyric acid BAIBA regulate Fgf23 via MRGPRD receptor by activating distinct signaling pathways in osteocytes.Sakamoto E, Kitase Y, Fitt AJ, Zhu Z, Awad K, Brotto M, White KE, Welc SS, Bergwitz C, Bonewald LF. Cell Rep. 2024 Jul 23; 2024 Jun 25. PMID: 38935499.
• 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.Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C. Kidney Int. 2024 Jul. PMID: 38906648.
• An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C. Kidney Int. 2024 May; 2024 Feb 15. PMID: 38364990.
• Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.Dodamani MH, Memon SS, Karlekar M, Lila AR, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil VA, Shah NS, Bergwitz C, Bandgar TR. Calcif Tissue Int. 2024 Feb; 2023 Nov 19. PMID: 37981601.
• Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1).Sangadala S, Shore EM, Xu M, Bergwitz C, Lozano-Calderon SA, Lin AE, Boden SD, Kaplan FS. Am J Med Genet A. 2023 Aug; 2023 May 23. PMID: 37218523.
• 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. Nutrition. 2021 Sep; 2021 Apr 28. PMID: 34111672.
• FGF23 signalling and physiology.Ho BB, Bergwitz C. J Mol Endocrinol. 2021 Feb. PMID: 33338030.
• 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. Nutr Res. 2021 Jan; 2020 Nov 18. PMID: 33450668.
• 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. N Engl J Med. 2020 Oct 1; 2020 Sep 9. PMID: 32905668.
• Importance of Dietary Phosphorus for Bone Metabolism and Healthy Aging.Serna J, Bergwitz C. Nutrients. 2020 Sep 30; 2020 Sep 30. PMID: 33007883.
• 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. Ther Adv Musculoskelet Dis. 2020; 2020 Sep 12. PMID: 32963591.
• 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. Sci Rep. 2020 Feb 20; 2020 Feb 20. PMID: 32080237.
• Transgenic mouse model for conditional expression of influenza hemagglutinin-tagged human SLC20A1/PIT1.Chande S, Ho B, Fetene J, Bergwitz C. PLoS One. 2019; 2019 Oct 15. PMID: 31613887.
• 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. Kidney Int Rep. 2019 Aug; 2019 May 17. PMID: 31440709.
• 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. Sci Rep. 2019 Jun 19; 2019 Jun 19. PMID: 31217461.
• Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.Bergwitz C, Miyamoto KI. Pflugers Arch. 2019 Jan; 2018 Aug 14. PMID: 30109410.
• Role of phosphate sensing in bone and mineral metabolism.Chande S, Bergwitz C. Nat Rev Endocrinol. 2018 Nov. PMID: 30218014.
• 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. PLoS One. 2017; 2017 Jul 13. PMID: 28704395.
• 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. PLoS One. 2017; 2017 Apr 27. PMID: 28448530.
• Impaired urinary osteopontin excretion in Npt2a-/- mice.Caballero D, Li Y, Ponsetto J, Zhu C, Bergwitz C. Am J Physiol Renal Physiol. 2017 Jan 1; 2016 Oct 26. PMID: 27784695.
• 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. FASEB J. 2016 Oct; 2016 Jun 23. PMID: 27338702.
• 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. J Am Soc Nephrol. 2014 Oct; 2014 Apr 3. PMID: 24700880.
• 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. PLoS One. 2013; 2013 Mar 8. PMID: 23520455.
• 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. J Clin Endocrinol Metab. 2012 Oct; 2012 Aug 3. PMID: 22865906.
• Dietary phosphate modifies lifespan in Drosophila.Bergwitz C. Nephrol Dial Transplant. 2012 Sep. PMID: 22942172.
• 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. Bone. 2012 May; 2012 Feb 24. PMID: 22387237.
• FGF23 and syndromes of abnormal renal phosphate handling.Bergwitz C, Jüppner H. Adv Exp Med Biol. 2012. PMID: 22396161.
• 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. PLoS One. 2012; 2012 Feb 16. PMID: 22359624.
• 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. N Engl J Med. 2011 Oct 27. PMID: 22029985.
• 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. BMC Bioinformatics. 2011 Aug 31; 2011 Aug 31. PMID: 21880147.
• Phosphate sensing.Bergwitz C, Jüppner H. Adv Chronic Kidney Dis. 2011 Mar. PMID: 21406298.
• 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. Am J Med Genet A. 2011 Mar; 2011 Feb 22. PMID: 21344632.
• 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. J Clin Endocrinol Metab. 2011 Mar; 2010 Dec 15. PMID: 21159843.
• 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 Jr, Mahon MJ, Gardella TJ, Jüppner H. J Biol Chem. 2011 Jan 14; 2010 Nov 3. PMID: 21047792.
• Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23.Bergwitz C, Jüppner H. Annu Rev Med. 2010. PMID: 20059333.
• 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. J Clin Endocrinol Metab. 2009 Nov; 2009 Oct 16. PMID: 19837926.
• 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. Exp Clin Endocrinol Diabetes. 2009 Feb; 2008 Jun 3. PMID: 18523928.
• Disorders of phosphate homeostasis and tissue mineralisation.Bergwitz C, Jüppner H. Endocr Dev. 2009; 2009 Jun 3. PMID: 19494665.
• NHERF1 mutations and responsiveness of renal parathyroid hormone.Bergwitz C, Bastepe M. N Engl J Med. 2008 Dec 11. PMID: 19073985.
• 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. J Bone Miner Res. 2008 Dec. PMID: 18684089.
• 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. Endocr Pract. 2008 Oct. PMID: 18996815.
• 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. PLoS Genet. 2008 Aug 8; 2008 Aug 8. PMID: 18688277.
• 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. Am J Physiol Renal Physiol. 2008 Aug; 2008 May 14. PMID: 18480181.
• 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. Am J Hum Genet. 2006 Feb; 2005 Dec 9. PMID: 16358214.
• 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. J Bone Miner Res. 2004 Apr; 2004 Jan 12. PMID: 15005849.
• 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. Am J Gastroenterol. 2002 Apr. PMID: 12003388.
• 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. Mol Cell Endocrinol. 2002 Jan 15. PMID: 11850128.
• 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. J Inherit Metab Dis. 2001 Nov. PMID: 11768584.
• Familial isolated parathyroid adenoma in a consanguineous family.Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. J Endocrinol Invest. 2001 May. PMID: 11407655.
• Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells.Bergwitz C, Wendlandt T, Kispert A, Brabant G. Biochim Biophys Acta. 2001 Apr 23. PMID: 11336784.
• 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. Histochem Cell Biol. 2000 Feb. 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. J Biol Chem. 1999 Aug 13. PMID: 10438471.
• The cadherin-catenin system: implications for growth and differentiation of endocrine tissues.Pötter E, Bergwitz C, Brabant G. Endocr Rev. 1999 Apr. PMID: 10204118.
• 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. Endocrinology. 1998 Feb. PMID: 9449646.
• 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. J Biol Chem. 1997 Nov 14. PMID: 9360953.
• Cloning and characterization of the vitamin D receptor from Xenopus laevis.Li YC, Bergwitz C, Jüppner H, Demay MB. Endocrinology. 1997 Jun. PMID: 9165021.
• 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 Jr, Kronenberg HM, Goldring SR, Jüppner H. J Biol Chem. 1996 Oct 25. PMID: 8900113.
• 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. J Clin Endocrinol Metab. 1995 May. PMID: 7745008.
• Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2).Bergwitz C, Abou-Samra AB, Hesch RD, Jüppner H. Biochim Biophys Acta. 1994 Jul 21. PMID: 8038214.
• Polymorphism in exon M7 of the PTHR gene.Schipani E, Hustmyer FG, Bergwitz C, Jüppner H. Hum Mol Genet. 1994 Jul. PMID: 7981709.
• Specific, high-affinity binding sites for angiotensin II on Mycoplasma hyorhinis.Bergwitz C, Madoff S, Abou-Samra AB, Jüppner H. Biochem Biophys Res Commun. 1991 Sep 30. PMID: 1718269.