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Select item 202681.

Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities

Laurent Beck, Andrew C. Karaplis, Norio Amizuka, A. Stacy Hewson, Hidehiro Ozawa, Harriet S. Tenenhouse

Proc Natl Acad Sci U S A. 1998 Apr 28; 95(9): 5372–5377. doi: 10.1073/pnas.95.9.5372

PMCID:: PMC20268

Abstract Article PDF–343K

Select item 35120702.

Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice

Andrew C. Karaplis, Xiuying Bai, Jean-Pierre Falet, Carolyn M. Macica

Endocrinology. 2012 Dec; 153(12): 5906–5917. Published online 2012 Oct 4. doi: 10.1210/en.2012-1551

PMCID:: PMC3512070

Abstract Article

Select item 82631273.

Renal Phosphate Wasting Due to Tumor-Induced (Oncogenic) Osteomalacia

Eluwana A Amaratunga, Emily B Ernst, James Kamau, Ragarupa Kotala, Richard Snyder

Cureus. 2021 Jun; 13(6): e15507. Published online 2021 Jun 7. doi: 10.7759/cureus.15507

PMCID:: PMC8263127

Abstract Article PDF–349K

Select item 42433524.

Renal Phosphate Wasting in the Absence of Adenylyl Cyclase 6

Robert A. Fenton, Fiona Murray, Jessica A. Dominguez Rieg, Tong Tang, Moshe Levi, Timo Rieg

J Am Soc Nephrol. 2014 Dec; 25(12): 2822–2834. Published online 2014 May 22. doi: 10.1681/ASN.2013101102

PMCID:: PMC4243352

Abstract Article

Select item 75926435.

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting

Susanne Thiele, Ralf Werner, Annika Stubbe, Olaf Hiort, Wolfgang Hoeppner

Eur J Endocrinol. 2020 Nov; 183(5): 497–504. Published online 2020 Aug 14. doi: 10.1530/EJE-20-0275

PMCID:: PMC7592643

Abstract Article PDF–248K

Select item 71454176.

High-phytate/low-calcium diet is a risk factor for crystal nephropathies, renal phosphate wasting, and bone loss

Ok-Hee Kim, Carmen J Booth, Han Seok Choi, Jinwook Lee, Jinku Kang, June Hur, Woo Jin Jung, Yun-Shin Jung, Hyung Jin Choi, Hyeonjin Kim, Joong-Hyuck Auh, Jung-Wan Kim, Ji-Young Cha, Young Jae Lee, Cheol Soon Lee, Cheolsoo Choi, Yun Jae Jung, Jun-Young Yang, Seung-Soon Im, Dae Ho Lee, Sun Wook Cho, Young-Bum Kim, Kyong Soo Park, Young Joo Park, Byung-Chul Oh

eLife. 2020; 9: e52709. Published online 2020 Apr 9. doi: 10.7554/eLife.52709

PMCID:: PMC7145417

Abstract Article PDF–3.1M

Select item 68256457.

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

Ria Schönauer, Friederike Petzold, Wilhelmina Lucinescu, Anna Seidel, Luise Müller, Steffen Neuber, Carsten Bergmann, John A. Sayer, Andreas Werner, Jan Halbritter

Urolithiasis. 2019; 47(6): 511–519. Published online 2019 Feb 23. doi: 10.1007/s00240-019-01116-2

PMCID:: PMC6825645

Abstract Article PDF–1.2M

Select item 1232808.

Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting

S. Shenolikar, J. W. Voltz, C. M. Minkoff, J. B. Wade, E. J. Weinman

Proc Natl Acad Sci U S A. 2002 Aug 20; 99(17): 11470–11475. Published online 2002 Aug 8. doi: 10.1073/pnas.162232699

PMCID:: PMC123280

Abstract Article PDF–186K

Select item 1822079.

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

Mara Riminucci, Michael T. Collins, Neal S. Fedarko, Natasha Cherman, Alessandro Corsi, Kenneth E. White, Steven Waguespack, Anurag Gupta, Tamara Hannon, Michael J. Econs, Paolo Bianco, Pamela Gehron Robey

J Clin Invest. 2003 Sep 1; 112(5): 683–692. doi: 10.1172/JCI18399

PMCID:: PMC182207

Abstract Article PDF–5.4M

Select item 359048010.

Oncogenic Osteomalacia due to FGF23-Expressing Colon Adenocarcinoma

David E. Leaf, Renata C. Pereira, Hasan Bazari, Harald Jüppner

J Clin Endocrinol Metab. 2013 Mar; 98(3): 887–891. Published online 2013 Feb 7. doi: 10.1210/jc.2012-3473

PMCID:: PMC3590480

Abstract Article

Select item 798315411.

Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome

J. A. Berglund, R. I. Gafni, F. Wodajo, E. W. Cowen, D. El-Maouche, R. Chang, C. C. Chen, L. C. Guthrie, A. A. Molinolo, M. T. Collins

Osteoporos Int. Author manuscript; available in PMC 2021 Mar 22.

Published in final edited form as: Osteoporos Int. 2018 Apr; 29(4): 993–997. Published online 2018 Jan 29. doi: 10.1007/s00198-017-4372-x

PMCID:: PMC7983154

Abstract Article PDF–1.2M

Select item 801857712.

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

Michaël R. Laurent, Jean De Schepper, Dominique Trouet, Nathalie Godefroid, Emese Boros, Claudine Heinrichs, Bert Bravenboer, Brigitte Velkeniers, Johan Lammens, Pol Harvengt, Etienne Cavalier, Jean-François Kaux, Jacques Lombet, Kathleen De Waele, Charlotte Verroken, Koenraad van Hoeck, Geert R. Mortier, Elena Levtchenko, Johan Vande Walle

Front Endocrinol (Lausanne) 2021; 12: 641543. Published online 2021 Mar 19. doi: 10.3389/fendo.2021.641543

Correction in:: Front Endocrinol (Lausanne). 2021; 12: 686401.

PMCID:: PMC8018577

Abstract Article PDF–1.2M

Select item 393730213.

Increased osteopontin contributes to inhibition of bone mineralization in FGF23-deficient mice

Quan Yuan, Yan Jiang, Xuefeng Zhao, Tadatoshi Sato, Michael Densmore, Christiane Schüler, Reinhold G. Erben, Marc D. McKee, Beate Lanske

J Bone Miner Res. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: J Bone Miner Res. 2014 Mar; 29(3): 693–704. doi: 10.1002/jbmr.2079

PMCID:: PMC3937302

Abstract Article PDF–6.4M

Select item 386935714.

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Young H. Lim, Diana Ovejero, Jeffrey S. Sugarman, Cynthia M.C. DeKlotz, Ann Maruri, Lawrence F. Eichenfield, Patrick K. Kelley, Harald Jüppner, Michael Gottschalk, Cynthia J. Tifft, Rachel I. Gafni, Alison M. Boyce, Edward W. Cowen, Nisan Bhattacharyya, Lori C. Guthrie, William A. Gahl, Gretchen Golas, Erin C. Loring, John D. Overton, Shrikant M. Mane, Richard P. Lifton, Moise L. Levy, Michael T. Collins, Keith A. Choate

Hum Mol Genet. 2014 Jan 15; 23(2): 397–407. Published online 2013 Sep 4. doi: 10.1093/hmg/ddt429

PMCID:: PMC3869357

Abstract Article PDF–1.1M

Select item 528389215.

Impaired urinary osteopontin excretion in Npt2a^−/− mice

Daniel Caballero, Yuwen Li, Julian Ponsetto, Chuanlong Zhu, Clemens Bergwitz

Am J Physiol Renal Physiol. 2017 Jan 1; 312(1): F77–F83. Published online 2016 Oct 26. doi: 10.1152/ajprenal.00367.2016

PMCID:: PMC5283892

Abstract Article

Select item 367222816.

Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia

Jian Q. Feng, Erica L. Clinkenbeard, Baozhi Yuan, Kenneth E. White, Marc K. Drezner

Bone. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Bone. 2013 Jun; 54(2): 213–221. Published online 2013 Feb 9. doi: 10.1016/j.bone.2013.01.046

PMCID:: PMC3672228

Abstract Article PDF–899K

Select item 839241317.

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

Chiara Mameli, Arianna Sangiorgio, Valeria Colombo, Mirko Gambino, Luigina Spaccini, Elisa Cattaneo, Gian Vincenzo Zuccotti

Int J Environ Res Public Health. 2021 Aug; 18(16): 8771. Published online 2021 Aug 19. doi: 10.3390/ijerph18168771

PMCID:: PMC8392413

Abstract Article PDF–7.5M

Select item 417148218.

FGF23 Deficiency Leads to Mixed Hearing Loss and Middle Ear Malformation in Mice

Andrew C. Lysaght, Quan Yuan, Yi Fan, Neil Kalwani, Paul Caruso, MaryBeth Cunnane, Beate Lanske, Konstantina M. Stanković

PLoS One. 2014; 9(9): e107681. Published online 2014 Sep 22. doi: 10.1371/journal.pone.0107681

PMCID:: PMC4171482

Abstract Article PDF–12M

Select item 354246219.

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

Jennifer E. Below, Dawn L. Earl, Kathryn M. Shively, Margaret J. McMillin, Joshua D. Smith, Emily H. Turner, Mark J. Stephan, Lihadh I. Al-Gazali, Jozef L. Hertecant, David Chitayat, Sheila Unger, Daniel H. Cohn, Deborah Krakow, James M. Swanson, Elaine M. Faustman, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics

Am J Hum Genet. 2013 Jan 10; 92(1): 137–143. doi: 10.1016/j.ajhg.2012.11.011

PMCID:: PMC3542462

Abstract Article PDF–496K

Select item 352791820.

Na⁺/H⁺ Exchanger Regulatory Factor 1 (NHERF1) Directly Regulates Osteogenesis

Li Liu, Veronica Alonso, Lida Guo, Irina Tourkova, Sarah E. Henderson, Alejandro J. Almarza, Peter A. Friedman, Harry C. Blair

J Biol Chem. 2012 Dec 21; 287(52): 43312–43321. Published online 2012 Oct 29. doi: 10.1074/jbc.M112.422766

PMCID:: PMC3527918

Abstract Article PDF–2.6M

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