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ArticlesPeer ReviewedFull Text
Fibroblast Growth Factor 23 and Mortality among Patients Undergoing Hemodialysis
Author / Creator:Gutiérrez, Orlando M ; Mannstadt, Michael ; Isakova, Tamara ; Rauh-Hain, Jose Alejandro ; Tamez, Hector ; Shah, Anand ; Smith, Kelsey ; Lee, Hang ; Thadhani, Ravi ; Jüppner, Harald ; Wolf, Myles
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2008-08, Vol.359 (6), p.584-592
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Glycerol-3-phosphate is an FGF23 regulator derived from the injured kidney
Author / Creator:Simic, Petra ; Kim, Wondong ; Zhou, Wen ; Pierce, Kerry A. ; Chang, Wenhan ; Sykes, David B. ; Aziz, Najihah B. ; Elmariah, Sammy ; Ngo, Debby ; Pajevic, Paola Divieti ; Govea, Nicolas ; Kestenbaum, Bryan R. ; de Boer, Ian H. ; Cheng, Zhiqiang ; Christov, Marta ; Chun, Jerold ; Leaf, David E. ; Waikar, Sushrut S. ; Tager, Andrew M. ; Gerszten, Robert E. ; Thadhani, Ravi I. ; Clish, Clary B. ; Jüppner, Harald ; Wein, Marc N. ; Rhee, Eugene P.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2020-03, Vol.130 (3), p.1513-1526
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Prolonging parathyroid hormone analog action in vitro and in vivo through peptide lipidation
Author / Creator:Höppner, Jakob ; Noda, Hiroshi ; Anitha, Anju Krishnan ; Cheloha, Ross W. ; Dean, Thomas ; Bruce, Michael ; Brooks, Daniel J. ; Mannstadt, Michael ; Bouxsein, Mary L. ; Gellman, Samuel H. ; Khatri, Ashok ; Jüppner, Harald ; Gardella, Thomas J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2025-05, Vol.16 (1), p.4487-16, Article 4487
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Germline Mutations Affecting Gα11 in Hypoparathyroidism
Author / Creator:Mannstadt, Michael ; Harris, Mark ; Bravenboer, Bert ; Chitturi, Sridhar ; Dreijerink, Koen M.A ; Lambright, David G ; Lim, Elaine T ; Daly, Mark J ; Gabriel, Stacey ; Jüppner, Harald
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2013-06, Vol.368 (26), p.2532-2534
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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
Author / Creator:Lorenz-Depiereux, Bettina ; Bastepe, Murat ; Benet-Pagès, Anna ; Amyere, Mustapha ; Wagenstaller, Janine ; Müller-Barth, Ursula ; Badenhoop, Klaus ; Kaiser, Stephanie M ; Rittmaster, Roger S ; Shlossberg, Alan H ; Olivares, José L ; Loris, César ; Ramos, Feliciano J ; Glorieux, Francis ; Vikkula, Miikka ; Jüppner, Harald ; Strom, Tim M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-11, Vol.38 (11), p.1248-1250
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Molecular Definition of Pseudohypoparathyroidism Variants
Author / Creator:Juppner, Harald
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2021-06, Vol.106 (6), p.1541-1552
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Hypoplastic Metatarsals — Beyond Cosmesis
Author / Creator:Sharma, Amita ; Phillips, Alfred J ; Jüppner, Harald
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2015-11, Vol.373 (22), p.2189-2190
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Fibroblast Growth Factor 23 in Oncogenic Osteomalacia and X-Linked Hypophosphatemia
Author / Creator:Jonsson, Kenneth B ; Zahradnik, Richard ; Larsson, Tobias ; White, Kenneth E ; Sugimoto, Toshitsugu ; Imanishi, Yasuo ; Yamamoto, Takehisa ; Hampson, Geeta ; Koshiyama, Hiroyuki ; Ljunggren, Östen ; Oba, Koichi ; Yang, In Myung ; Miyauchi, Akimitsu ; Econs, Michael J ; Lavigne, Jeffrey ; Jüppner, Harald
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2003-04, Vol.348 (17), p.1656-1663
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Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes
Author / Creator:Grüters-Kieslich, Annette ; Reyes, Monica ; Sharma, Amita ; Demirci, Cem ; DeClue, Terry J ; Lankes, Erwin ; Tiosano, Dov ; Schnabel, Dirk ; Jüppner, Harald
Publisher:Washington, DC: Endocrine Society
Journal title:The journal of clinical endocrinology and metabolism, 2017-08, Vol.102 (8), p.2670-2677
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Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation
Author / Creator:Bastepe, Murat ; Jüppner, Harald
Publisher:Boston: Springer US
Journal title:Reviews in endocrine & metabolic disorders, 2008-06, Vol.9 (2), p.171-180
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Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
Author / Creator:Bastepe, Murat ; Fröhlich, Leopold F ; Linglart, Agnès ; Abu-Zahra, Hilal S ; Tojo, Katsuyoshi ; Ward, Leanne M ; Jüppner, Harald
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2005-01, Vol.37 (1), p.25-27
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GNAS Locus and Pseudohypoparathyroidism
Author / Creator:Bastepe, Murat ; Jüppner, Harald
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2005-01, Vol.63 (2), p.65-74
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Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment
Author / Creator:Portales‐Castillo, Ignacio ; Singal, Rhea ; Ambrose, Anastasia ; Song, Jong Hee ; Son, Minsoo ; Goo, Young Ah ; Zhou, Wen ; Traum, Avram Z. ; Coler‐Reilly, Ariella ; Humphreys, Benjamin D. ; Civitelli, Roberto ; Jüppner, Harald ; Lundquist, Andrew L. ; Seres, Peter ; Allegretti, Andrew S. ; Mercimek‐Andrews, Saadet
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-09, Vol.65 (5), p.341-353
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Critical role of parathyroid hormone (PTH) receptor-1 phosphorylation in regulating acute responses to PTH
Author / Creator:Maeda, Akira ; Okazaki, Makoto ; Baron, David M. ; Dean, Thomas ; Khatri, Ashok ; Mahon, Mathew ; Segawa, Hiroko ; Abou-Samra, Abdul B. ; Jüppner, Harald ; Bloch, Kenneth D. ; Potts, John T. ; Gardella, Thomas J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2013-04, Vol.110 (15), p.5864-5869
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Case 17-2017: A 14-Year-Old Boy with Acute Fear of Choking while Swallowing
Author / Creator:Carroll, Ryan W ; Katz, Michelle L ; Paul, Elahna ; Jüppner, Harald
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2017-06, Vol.376 (23), p.2266-2275
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Osteocytic Protein Expression Response to Doxercalciferol Therapy in Pediatric Dialysis Patients
Author / Creator:Pereira, Renata C. ; Jüppner, Harald ; Gales, Barbara ; Salusky, Isidro B. ; Wesseling-Perry, Katherine
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0120856-e0120856
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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
Author / Creator:Korvala, Johanna ; Jüppner, Harald ; Mäkitie, Outi ; Sochett, Etienne ; Schnabel, Dirk ; Mora, Stefano ; Bartels, Cynthia F ; Warman, Matthew L ; Deraska, Donald ; Cole, William G ; Hartikka, Heini ; Ala-Kokko, Leena ; Männikkö, Minna
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2012-04, Vol.13 (1), p.26-26, Article 26
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Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib
Author / Creator:Fröhlich, Leopold F ; Mrakovcic, Maria ; Steinborn, Ralf ; Chung, Ung-Il ; Bastepe, Murat ; Jüppner, Harald
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2010-05, Vol.107 (20), p.9275-9280
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Obesity and Gαs Variants
Author / Creator:Jüppner, Harald
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2021-10, Vol.385 (17), p.1619-1622
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Heterotopic Ossifications in a Mouse Model of Albright Hereditary Osteodystrophy
Author / Creator:Huso, David L. ; Edie, Sarah ; Levine, Michael A. ; Schwindinger, William ; Wang, Yingli ; Jüppner, Harald ; Germain-Lee, Emily L.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-06, Vol.6 (6), p.e21755
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Showing 1 to 20 of 100 results

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Fibroblast Growth Factor 23 and Mortality among Patients Undergoing Hemodialysis

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Glycerol-3-phosphate is an FGF23 regulator derived from the injured kidney

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Prolonging parathyroid hormone analog action in vitro and in vivo through peptide lipidation

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Germline Mutations Affecting Gα11 in Hypoparathyroidism

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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

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Molecular Definition of Pseudohypoparathyroidism Variants

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Hypoplastic Metatarsals — Beyond Cosmesis

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Fibroblast Growth Factor 23 in Oncogenic Osteomalacia and X-Linked Hypophosphatemia

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Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes

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Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

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Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

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GNAS Locus and Pseudohypoparathyroidism

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Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

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Critical role of parathyroid hormone (PTH) receptor-1 phosphorylation in regulating acute responses to PTH

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Case 17-2017: A 14-Year-Old Boy with Acute Fear of Choking while Swallowing

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Osteocytic Protein Expression Response to Doxercalciferol Therapy in Pediatric Dialysis Patients

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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

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Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib

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Obesity and Gαs Variants

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Heterotopic Ossifications in a Mouse Model of Albright Hereditary Osteodystrophy

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