Mannstadt Lab

Publications

2023

Tucker-Bartley A, Selen DJ, Golden E, van Gool R, Ebb D, Mannstadt M, Upadhyay J. Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune-Albright Syndrome. Int J Mol Sci. 2023 Jan 29;24(3):2550. doi: 10.3390/ijms24032550. PMID: 36768871; PMCID: PMC9916440.

Golden E, van der Heijden H, Ren B, Randall ET, Drubach LA, Shah N, Cay M, Ebb D, Kaban LB, Peacock ZS, Boyce AM, Mannstadt M, Upadhyay J. Phenotyping Pain in Patients with Fibrous Dysplasia/McCune-Albright Syndrome. J Clin Endocrinol Metab. 2023 Oct 6:dgad589. doi: 10.1210/clinem/dgad589. Epub ahead of print. PMID: 37804088.

Fan W, Leder BZ, Mannstadt M, Ly TV, Franco-Garcia E, Bolster MB. Safety of Inpatient Zoledronic Acid in the Immediate Postfracture Setting. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1282-e1288. doi: 10.1210/clinem/dgad295. PMID: 37227016.

Ing SW, Finkelman RD, He P, Khan AA, Mannstadt M, Rejnmark L, Song I, Takács I, Wu Y. A Phase I Randomized Trial of Once-Daily Versus Twice-Daily Recombinant Human Parathyroid Hormone (1-84) for Hypoparathyroidism. JBMR Plus. 2023 May 31;7(7):e10758. doi: 10.1002/jbm4.10758. PMID: 37457880; PMCID: PMC10339078.

Yoon SH, Meyer MB, Arevalo C, Tekguc M, Zhang C, Wang JS, Castro Andrade CD, Strauss K, Sato T, Benkusky NA, Lee SM, Berdeaux R, Foretz M, Sundberg TB, Xavier RJ, Adelmann CH, Brooks DJ, Anselmo A, Sadreyev RI, Rosales IA, Fisher DE, Gupta N, Morizane R, Greka A, Pike JW, Mannstadt M, Wein MN. A parathyroid hormone/salt-inducible kinase signaling axis controls renal vitamin D activation and organismal calcium homeostasis. J Clin Invest. 2023 May 1;133(9):e163627. doi: 10.1172/JCI163627. PMID: 36862513; PMCID: PMC10145948.

Parksook WW, Heydarpour M, Brown JM, Turchin A, Mannstadt M, Vaidya A. Evaluating the clinical and mechanistic effects of eplerenone and amiloride monotherapy, and combination therapy with cinacalcet, in primary hyperparathyroidism: A placebo-controlled randomized trial. Clin Endocrinol (Oxf). 2023 Apr;98(4):516-526. doi: 10.1111/cen.14840. Epub 2022 Nov 8. PMID: 36316798; PMCID: PMC10006290.

Zhou W, Simic P, Zhou IY, Caravan P, Vela Parada X, Wen D, Washington OL, Shvedova M, Pierce KA, Clish CB, Mannstadt M, Kobayashi T, Wein MN, Jüppner H, Rhee EP. Kidney glycolysis serves as a mammalian phosphate sensor that maintains phosphate homeostasis. J Clin Invest. 2023 Apr 17;133(8):e164610. doi: 10.1172/JCI164610. PMID: 36821389; PMCID: PMC10104895.

Watts NB, Bilezikian JP, Bone HG, Clarke BL, Denham D, Levine MA, Mannstadt M, Peacock M, Rothman JG, Vokes TJ, Warren ML, Yin S, Sherry N, Shoback DM. Long-Term Safety and Efficacy of Recombinant Human Parathyroid Hormone (1-84) in Adults With Chronic Hypoparathyroidism. J Endocr Soc. 2023 Apr 4;7(5):bvad043. doi: 10.1210/jendso/bvad043. PMID: 37091306; PMCID: PMC10119703.

Silver Karcioglu AL, Triponez F, Solórzano CC, Iwata AJ, Abdelhamid Ahmed AH, Almquist M, Angelos P, Benmiloud F, Berber E, Bergenfelz A, Cha J, Colaianni CA, Davies L, Duh QY, Hartl D, Kandil E, Kim WW, Kopp PA, Liddy W, Mahadevan-Jansen A, Lee KD, Mannstadt M, McMullen CP, Shonka DC Jr, Shin JJ, Singer MC, Slough CM, Stack BC Jr, Tearney G, Thomas G, Tolley N, Vidal-Fortuny J, Randolph GW. Emerging Imaging Technologies for Parathyroid Gland Identification and Vascular Assessment in Thyroid Surgery: A Review From the American Head and Neck Society Endocrine Surgery Section. JAMA Otolaryngol Head Neck Surg. 2023 Mar 1;149(3):253-260. doi: 10.1001/jamaoto.2022.4421. PMID: 36633855.

Charoenngam N, Mannstadt M. Primary Hyperparathyroidism in a Patient With Bilateral Pheochromocytoma and a Mutation in the Tumor Suppressor MAX. JCEM Case Rep. 2023 Feb 3;1(1):luad006. doi: 10.1210/jcemcr/luad006. PMID: 37908276; PMCID: PMC10578369.

2022

Yao L, Li J, Li M, Lin C, Hui X, Tamilselvan D, Kandi M, Sreekanta A, Makhdami N, Ali DS, Dandurand K, Yang K, Bilezikian JP, Brandi ML, Clarke BL, Mannstadt M, Rejnmark L, Khan AA, Guyatt G. Parathyroid Hormone Therapy for Managing Chronic Hypoparathyroidism: A Systematic Review and Meta-Analysis. J Bone Miner Res. 2022 Dec;37(12):2654-2662. doi: 10.1002/jbmr.4676. Epub 2022 Nov 16. PMID: 36385517.

Khan AA, Bilezikian JP, Brandi ML, Clarke BL, Potts JJ, Mannstadt M, on Hyperparathyroidism IWP. The Second International Workshop on the Evaluation and Management of Hypoparathyroidism. J Bone Miner Res . 2022. 2022 Dec;37(12):2566-2567. doi: 10.1002/jbmr.4671. Epub 2022 Nov 14. PMID: 36375811.

Yao L, Hui X, Li M, Li J, Ahmed MM, Lin C, Kandi M, Sreekanta A, Makhdami N, Tamilselvan D, et al. Complications, Symptoms, Presurgical Predictors in Patients With Chronic Hypoparathyroidism: A Systematic Review. J Bone Miner Res. 2022. Dec;37(12):2642-2653. doi: 10.1002/jbmr.4673. Epub 2022 Nov 14. PMID: 36375810.

Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L, Guyatt GH, Thakker RV, et al. Hypoparathyroidism: Genetics and Diagnosis. J Bone Miner Res. 2022. Dec;37(12):2615-2629. doi: 10.1002/jbmr.4667. Epub 2022 Nov 14. PMID: 36375809.

Van Uum S, Shrayyef M, M’Hiri I, Dandurand K, Ali DS, Bilezikian JP, Collins MT, Mannstadt M, Rubin MR, Siggelkow H, et al. Initial Assessment and Monitoring of Patients with Chronic Hypoparathyroidism: a Systematic Current Practice Survey. . J Bone Miner Res. 2022. Dec;37(12):2630-2641. doi: 10.1002/jbmr.4698. Epub 2022 Nov 14. PMID: 36066096.

Khan AA, Bilezikian JP, Brandi ML, Clarke BL, Gittoes NJ, Pasieka JL, Rejnmark L, Shoback DM, Potts JT, Guyatt GH, et al. Evaluation and Management of Hypoparathyroidism Summary Statement and Guidelines from the Second International Workshop. . J Bone Miner Res. 2022. Dec;37(12):2568-2585. doi: 10.1002/jbmr.4691. Epub 2022 Nov 14. PMID: 36054621.

Khan AA, Guyatt G, Ali DS, Bilezikian JP, Collins MT, Dandurand K, Mannstadt M, Murphy D, M’Hiri I, Rubin MR, Sanders R, Shrayyef M, Siggelkow H, Tabacco G, Tay YD, Van Uum S, Vokes T, Winer KK, Yao L, Rejnmark L. Management of Hypoparathyroidism. J Bone Miner Res. 2022 Dec;37(12):2663-2677. doi: 10.1002/jbmr.4716. Epub 2022 Oct 31. PMID: 36161671.

Bilezikian JP, Khan AA, Clarke BL, Mannstadt M, Potts JT, Brandi ML. The Fifth International Workshop on the Evaluation and Management of Primary Hyperparathyroidism. J Bone Miner Res. 2022. Nov;37(11):2290-2292. doi: 10.1002/jbmr.4670. Epub 2022 Oct 17. PMID: 36245277.

Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, et al. Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop. J Bone Miner Res. 2022. Nov;37(11):2293-2314. doi: 10.1002/jbmr.4677. Epub 2022 Oct 17. PMID: 36245251.

Ye Z, Silverberg SJ, Sreekanta A, Tong K, Wang Y, Chang Y, Zhang M, Guyatt G, Tangamornsuksun W, Zhang Y, et al. The efficacy and safety of medical and surgical therapy in patients with primary hyperparathyroidism: a systematic review and meta-analysis of randomized controlled trials. . J Bone Miner Res. 2022.Nov;37(11):2351-2372. doi: 10.1002/jbmr.4685. Epub 2022 Oct 17. PMID: 36053960.

Yao L, Guyatt G, Ye Z, Bilezikian JP, Brandi ML, Clarke BL, Mannstadt M, Khan AA. Methodology for the guidelines on evaluation and management of hypoparathyroidism and primary hyperparathyroidism. J Bone Miner Res. 2022. Nov;37(11):2404-2410. doi: 10.1002/jbmr.4687. Epub 2022 Oct 17. PMID: 36053800.

Meyer MB, Benkusky NA, Lee SM, Yoon SH, Mannstadt M, Wein MN, Pike JW. Rapid genomic changes by mineralotropic hormones and kinase SIK inhibition drive coordinated renal Cyp27b1 and Cyp24a1 expression via CREB modules. . J Biol Chem. 2022. Nov;298(11):102559. doi: 10.1016/j.jbc.2022.102559. Epub 2022 Sep 30. PMID: 36183832; PMCID: PMC9637672.

Björnsdottir S, Clarke BL, Mannstadt M, Langdahl BL. Male osteoporosis-what are the causes, diagnostic challenges, and management. Best Pract Res Clin Rheumatol. 2022. Sep;36(3):101766. doi: 10.1016/j.berh.2022.101766. Epub 2022 Aug 9. PMID: 35961836.

Swartling O, Evans M, Spelman T, Kamal W, Kämpe O, Mannstadt M, Trolle Lagerros Y, Björnsdottir S. Kidney Complications and Hospitalization in Patients With Chronic Hypoparathyroidism: A Cohort Study in Sweden. J Clin Endocrinol Metab. 2022;107 (10) :e4098-e4105. doi: 10.1210/clinem/dgac456. PMID: 35907259; PMCID: PMC9516192.

Bondeson DP, Paolella BR, Asfaw A, Rothberg MV, Skipper TA, Langan C, Mesa G, Gonzalez A, Surface LE, Ito K, et al. Phosphate dysregulation via the XPR1–KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer. Nature Cancer. 2022. Jun;3(6):681-695. doi: 10.1038/s43018-022-00360-7. Epub 2022 Apr 18. PMID: 35437317; PMCID: PMC9246846.

2021

Gittoes N, Rejnmark L, Ing SW, Brandi ML, Björnsdottir S, Hahner S, Hofbauer LC, Houillier P, Kahn AA, Levine MA, et al. The PARADIGHM (physicians advancing disease knowledge in hypoparathyroidism) registry for patients with chronic hypoparathyroidism: study protocol and interim baseline patient characteristics. BMC Endocrine Disorders. 2021 Nov 20;21(1):232. doi: 10.1186/s12902-021-00888-2. PMID: 34801015; PMCID: PMC8606089.

Arnold A, Dennison E, Kovacs CS, Mannstadt M, Rizzoli R, Brandi ML, Clarke B, Thakker RV. Hormonal regulation of biomineralization. Nature Reviews Endocrinology. 2021 May;17(5):261-275. doi: 10.1038/s41574-021-00477-2. Epub 2021 Mar 16. PMID: 33727709.

2020

ENCODE Project Consortium; Moore JE, Purcaro MJ, Pratt HE, Epstein CB, Shoresh N, Adrian J, Kawli T, Davis CA, Dobin A, Kaul R, Halow J, Van Nostrand EL, Freese P, Gorkin DU, Shen Y, He Y, Mackiewicz M, Pauli-Behn F, Williams BA, Mortazavi A, Keller CA, Zhang XO, Elhajjajy SI, Huey J, Dickel DE, Snetkova V, Wei X, Wang X, Rivera-Mulia JC, Rozowsky J, Zhang J, Chhetri SB, Zhang J, Victorsen A, White KP, Visel A, Yeo GW, Burge CB, Lécuyer E, Gilbert DM, Dekker J, Rinn J, Mendenhall EM, Ecker JR, Kellis M, Klein RJ, Noble WS, Kundaje A, Guigó R, Farnham PJ, Cherry JM, Myers RM, Ren B, Graveley BR, Gerstein MB, Pennacchio LA, Snyder MP, Bernstein BE, Wold B, Hardison RC, Gingeras TR, Stamatoyannopoulos JA, Weng Z. Expanded encyclopaedias of DNA elements in the human and mouse genomes. Nature. 2020 Jul;583(7818):699-710. doi: 10.1038/s41586-020-2493-4. Epub 2020 Jul 29. Erratum in: Nature. 2022 May;605(7909):E3. PMID: 32728249; PMCID: PMC7410828.

ENCODE Project Consortium; Snyder MP, Gingeras TR, Moore JE, Weng Z, Gerstein MB, Ren B, Hardison RC, Stamatoyannopoulos JA, Graveley BR, Feingold EA, Pazin MJ, Pagan M, Gilchrist DA, Hitz BC, Cherry JM, Bernstein BE, Mendenhall EM, Zerbino DR, Frankish A, Flicek P, Myers RM. Perspectives on ENCODE. Nature. 2020 Jul;583(7818):693-698. doi: 10.1038/s41586-020-2449-8. Epub 2020 Jul 29. Erratum in: Nature. 2022 May;605(7909):E4. PMID: 32728248; PMCID: PMC7410827.

2019

Ahn SV, Lee JH, Bove-Fenderson EA, Park SY, Mannstadt M, Lee S. Incidence of Hypoparathyroidism After Thyroid Cancer Surgery in South Korea, 2007-2016. JAMA. 2019 Dec 24;322(24):2441-2443. doi: 10.1001/jama.2019.19641. Erratum in: JAMA. 2021 Jan 26;325(4):402. PMID: 31860036; PMCID: PMC6990661.

Mannstadt M, Clarke BL, Bilezikian JP, Bone H, Denham D, Levine MA, Peacock M, Rothman J, Shoback DM, Warren ML, Watts NB, Lee HM, Sherry N, Vokes TJ. Safety and Efficacy of 5 Years of Treatment With Recombinant Human Parathyroid Hormone in Adults With Hypoparathyroidism. J Clin Endocrinol Metab. 2019 Nov 1;104(11):5136-5147. doi: 10.1210/jc.2019-01010. PMID: 31369089; PMCID: PMC6760337.

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A. A New Multisystem Disorder Caused by the Gαs Mutation p.F376V. J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250. PMID: 30312418; PMCID: PMC6380466.

2018

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, et al. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genomic Medicine. 2018;3 (21) :eCollection. Publisher’s Version

Bove-Fenderson E, Mannstadt M. Hypocalcemic disorders. Best Practice & Research Clinical Endocrinology & Metabolism. 2018;32 (5) :639-656. Publisher’s Version

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, et al. A new multi-system disorder caused by the Gαs mutation p.F376V. Journal of Clinical Endocrinology & Metabolism. 2018. Publisher’s Version

Fan Y, Liu W, Bi R, Densmore MJ, Sato T, Mannstadt M, Yaun Q, Zhou X, Olauson H, Larsson TE, et al. Interrelated role of Klotho and calcium-sensing receptor in parathyroid hormone synthesis and parathyroid hyperplasia. Proceedings of the National Academy of Sciences of the United States of America . 2018;115 (16) :E3749-E3758. Publisher’s Version

Goltzman D, Mannstadt M, Marcocci C. Physiology of the Calcium-Parathyroid Hormone-Vitamin D Axis. Frontiers of Hormone Research. 2018;50 :1-3. Publisher’s Version

Bove-Fenderson E, Duffy K, Mannstadt M. Sharing the Wealth: ASBMR Journals Update Policies on Data Sharing and Data Repositories. Journal of Bone and Mineral Research. 2018;33 (3) :369-370. Publisher’s Version

Bove-Fenderson E, Duffy K, Mannstadt M. Broadening Our Horizons: JBMR and JBMR Plus Embrace Preprints. Journal of Bone and Mineral Research. 2018;33 (2) :185-187. Publisher’s Version

Vokes TJ, Mannstadt M, Levine MA, Clarke BL, Lakatos P, Chen K, Piccolo R, Krasner A, Shoback DM, Bilezikian JP. Recombinant Human Parathyroid Hormone Effect on Health-Related Quality of Life in Adults With Chronic Hypoparathyroidism. Journal of Clinical Endocrinology & Metabolism. 2018;103 (2) :722-731. Publisher’s Version

2017

Vokes TJ, Mannstadt M, Levine MA, Clarke BL, Lakatos P, Chen K, Piccolo R, Krasner A, Shoback DM, Bilezikian JP. Recombinant Human Parathyroid Hormone Effect on Health-Related Quality of Life in Adults With Chronic Hypoparathyroidism. Journal of Clinical Endocrinology & Metabolism. 2017 :1-15. Publisher’s Version

Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Reijnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM. Hypoparathyroidism. Nature Reviews Disease Primers. 2017;3 :1-20. Publisher’s Version

Bi R, Fan Y, Yuan Q, Mannstadt M. Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation. Journal of Visualized Experiments. 2017;(121) :1-6

Stephen AE, Mannstadt M, Hodin RA. Indications for Surgical Management of Hyperparathyroidism: A Review. JAMA Surgery Review. 2017 :E1 – E5

Bi R, Yan Y, Luo E, Mannstadt M. Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glandsand Diphtheria-Toxin-Mediated Parathyroid Ablation. Journal of Visualized Experiments. 2017;(121) :1-6. Publisher’s Version

Roszko KL, Gorvin CM, Bräuner-Osborne H, Xiong XF, Inoue A, Thakker RV, Strømgaard K, Gardella T, Mannstadt M. Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors. JCI Insight. 2017;2 (3) :1-15. Publisher’s Versio

Fan Y, Hanai J, Bi R, Maridas D, DeMambro V, Figueroa CA, Kir S, Zhou X, Mannstadt M, Baron R, et al. Parathyroid Hormone Directs Bone Marrow Mesenchymal Cell Fate. Cell Metabolism. 2017 :13.

2016

Xiong XF, Zhang H, Underwood CR, Harpsøe K, Gardella TJ, Wöldike MF, Mannstadt M, Gloriam DE, Bräuner-Osborne H, Strømgaard K. Total synthesis and structure–activity relationship studies of a series of selective G protein inhibitors. Nature Chemistry. 2016;8 :1035-1041.

Roszko KL, Bi DR, Mannstadt M. Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2. Frontiers in Physiology. 2016;7 (458).

Clarke BL, Vokes TJ, Bilezikian JP, Shoback DM, Lagast H, Mannstadt M. Effects of parathyroid hormone rhPTH (1-84) on phosphate homeostasis and vitamin D metabolism in hyporarathyroidism: REPLACE phase 3 study. Endocrine. 2016.

Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt M, Bilezikian JP, Romanischen AF, Thakker RV. Epidemiology and Diagnosis of Hypoparathyroidism. J Clin Endocrinol Metab. 2016;101 (6) :2284-2299.Abstract Epidemiology and Diagnosis of Hypoparathyroidism

Bilezikian JP, Brandi ML, Cusano NE, Mannstadt M, Rejnmark L, Rizzoli R, Rubin MR, Winer KK, Liberman UA, Potts JTJ. Management of Hypoparathyroidism: Present and Future. J Clin Endocrinol Metab. 2016;Epub ahead of print.Abstract Management_of_Hypoparathyroidism_JCEM_2016.pdf

R B, Y F, Lauter KB, Hu J, Watanabe T, Cradock J, Yuan Q, Gardella TJ, Mannstadt M. Diphtheria Toxin- and GFP-Based Mouse Models of Acquired Hypoparathyroidism and Treatment with a Long-Acting Parathyroid Hormone Analog. J Bone Miner Res. 2016;[Epub ahead of print].

2015

Lee SH, Mannstadt M, Guo J, Kim SM, Yi H-S, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H. A Homozygous [Cys25]PTH(1-84) Mutation that Impairs PTH/PTHrP Receptor Activation Defines a Novel form of Hypoparathyroidism. J Bone Miner Res. 2015

Monis EL, Mannstadt M. Hypoparathyroidism-disease update and emerging treatments. Ann Endocrinol (Paris). 2015;76 (2) :84-8.Abstract 

2014

Dreijerink KMA, goudet P, burgess JR, Valk GD, International-Breast-Cancer-in-MEN1-Study-Group. Breast-cancer predisposition in multiple endocrine neoplasia type 1. N Engl J Med. 2014;371 (6) :583-4.

Mannstadt M, Lin AE, Le LP. Case records of the Massachusetts General Hospital. Case 24-2014. A 27-year-old man with severe osteoporosis and multiple bone fractures. N Engl J Med. 2014;371 (5) :465-72.

Eyal O, Oren A, Jüppner H, Somech R, De Bellis A, Mannstadt M, Szalat A, Bleiberg M, Weisman Y, Weintrob N. Hypoparathyroidism and central diabetes insipidus: in search of the link. Eur J Pediatr. 2014;173 (12) :1731-4

2013

Mannstadt M, Clarke BL, Vokes T, Brandi ML, Ranganath L, Fraser WD, Lakatos P, Bajnok L, Garceau R, Mosekilde L, et al. Efficacy and safety of recombinant human parathyroid hormone (1-84) in hypoparathyroidism (REPLACE): a double-blind, placebo-controlled, randomised, phase 3 study. Lancet Diabetes Endocrinol. 2013;1 (4) :275-83

Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KMA, Lambright DG, Lim ET, Daly MJ, Gabriel S, Jüppner H. Germline mutations affecting Gα11 in hypoparathyroidism. N Engl J Med. 2013;368 (26) :2532-4.

Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporos Int. 2013;24 (8) :2275-81

2012

Yi H-S, Eom YS, Park IB, Lee S, Hong S, Jüppner H, Mannstadt M, Lee SH. Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism. Clin Endocrinol (Oxf). 2012;76 (5) :625-33.

Block GA, Wheeler DC, Persky MS, Kestenbaum B, Ketteler M, Spiegel DM, Allison MA, Asplin J, Smits G, Hoofnagle AN, et al. Effects of phosphate binders in moderate CKD. J Am Soc Nephrol. 2012;23 (8) :1407-15

Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, et al. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. J Clin Endocrinol Metab. 2012;97 (10) :E1978-86.

Mitchell DM, Regan S, Cooley MR, Lauter KB, Vrla MC, Becker CB, Burnett-Bowie S-AM, Mannstadt M. Long-term follow-up of patients with hypoparathyroidism. J Clin Endocrinol Metab. 2012;97 (12) :4507-14

2011

Mannstadt M, Holick E, Zhao W, Jüppner H. Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism. J Endocrinol. 2011;210 (2) :165-71.

2008

Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J Clin Endocrinol Metab. 2008;93 (9) :3568-76.

Gutiérrez OM, Mannstadt M, Isakova T, Rauh-Hain JA, Tamez H, Shah A, Smith K, Lee H, Thadhani R, Jüppner H, et al. Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis. N Engl J Med. 2008;359 (6) :584-92.

Mannstadt M, Lorente C, Jüppner H. Rapid detection of intact FGF-23 in tumor tissue from patients with oncogenic osteomalacia. Clin Chem. 2008;54 (7) :1252-4. rapid_fgf_clin_chem.pdf

2007

Bazari H, Jaff MR, Mannstadt M, Yan S. Case records of the Massachusetts General Hospital. Case 7-2007. A 59-year-old woman with diabetic renal disease and nonhealing skin ulcers. N Engl J Med. 2007;356 (10) :1049-57. cpc_calciphylaxis_nejmcpc069038.pdf

2004

Schindler S, Mannstadt M, Urena P, Segre GV, Stein G. PTH secretion in patients with chronic renal failure assessed by a modified CiCa clamp method: effects of 1-year calcitriol therapy. Clin Nephrol. 2004;61 (4) :253-60

2001

White KE, Jonsson KB, Carn G, Hampson G, Spector TD, Mannstadt M, Lorenz-Depiereux B, Miyauchi A, Yang IM, Ljunggren O, et al. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab. 2001;86 (2) :497-500

Jonsson KB, Mannstadt M, Miyauchi A, Yang IM, Stein G, Stein G, Jüppner H. Extracts from tumors causing oncogenic osteomalacia inhibit phosphate uptake in opossum kidney cells. J Endocrinol. 2001;169 (3) :613-20.

2000

Brenner-Maucher K, Szeimies U, Mannstadt M, Gross M. [Fasciola hepatica: the sonographic and computed tomographic changes in a case with a liver fluke]. Rofo. 2000;172 (6) :562-3.

Mannstadt M, Sing A, Leitritz L, Brenner-Maucher K, Bogner J. Conservative management of biliary obstruction due to Fasciola hepatica. Clin Infect Dis. 2000;31 (5) :1301-3.

1999

Mannstadt M, Jüppner H, Gardella TJ. Receptors for PTH and PTHrP: their biological importance and functional properties. Am J Physiol. 1999;277 (5 Pt 2) :F665-75.

1998

Mannstadt M, Luck MD, Gardella TJ, Jüppner H. Evidence for a ligand interaction site at the amino-terminus of the parathyroid hormone (PTH)/PTH-related protein receptor from cross-linking and mutational studies. J Biol Chem. 1998;273 (27) :16890-6

Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A. 1998;95 (20) :11798-803.

1997

Mannstadt M. [The knockout mouse–a revolutionizing model in biomedical research]. Med Klin (Munich). 1997;92 (9) :558-60.

Mannstadt M, Drüeke TB. [Parathyroid hormone receptors: from cloning to physiological, physiopathological and clinical implications]. Nephrologie. 1997;18 (1) :5-10.

1996

Hruby M, Ureña P, Mannstadt M, Schmitt F, Lacour B, Drüeke TB. Effects of new vitamin D analogues on parathyroid function in chronically uraemic rats with secondary hyperparathyroidism. Nephrol Dial Transplant. 1996;11 (9) :1781-6.

1995

Mannstadt M, Touam M, Fink E, Ureña P, Hruby M, Zingraff J, Uhlenbusch-Körwer I, Grassmann A, Lemke HD, Drüeke TB. No generation of bradykinin with a new polyacrylonitrile membrane (SPAN) in haemodialysis patients treated with ACE inhibitors. Nephrol Dial Transplant. 1995;10 (9) :1696-700.

Ureña P, Mannstadt M, Hruby M, Ferreira A, Schmitt F, Silve C, Ardaillou R, Lacour B, Abou-Samra AB, Segre GV. Parathyroidectomy does not prevent the renal PTH/PTHrP receptor down-regulation in uremic rats. Kidney Int. 1995;47 (6) :1797-805.

1994

Ureña P, Kubrusly M, Mannstadt M, Hruby M, Trinh MM, Silve C, Lacour B, Abou-Samra AB, Segre GV, Drüeke T. The renal PTH/PTHrP receptor is down-regulated in rats with chronic renal failure. Kidney Int. 1994;45 (2) :605-11.

Ureña P, Kubrusly M, Mannstadt M, Sarfati E, Drüeke T. Total or subtotal parathyroidectomy in uremic patients?. Clin Nephrol. 1994;41 (1) :59-60.