Results 41 to 50 of about 1,327 (129)

X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women

JBMR Plus, 2022
Inactivating mutations of the gene coding for phosphate‐regulating endopeptidase homolog X‐linked (PHEX) cause X‐linked hypophosphatemia (XLH). A novel PHEX variant, c.*231A>G; exon 13–15 duplication, has emerged as a common cause of XLH in North America,
Kathryn McCrystal Dahir, Margo Black, Gary S Gottesman, Erik A Imel, Steven Mumm, Cindy M Nichols, Michael P Whyte   +6 more
doaj   +1 more source

Lysophosphatidic Acid Synergizes With 1,25‐Dihydroxyvitamin D to Promote Fibroblast Growth Factor‐23 Synthesis via MAPK Signaling and Induction of the IL12A Gene

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay, Sajin Marcus Cyr, Yorihiro Iwasaki, Elizabeth Hill, Eugene P. Rhee, Nevil J. Singh, Petra Simic, Murat Bastepe   +7 more
wiley   +1 more source

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X‐Linked Hypophosphatemic Rickets

Advanced Science, Volume 13, Issue 4, 19 January 2026.
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Huixiao Wu, Wanyi Zhao, Xinyu Chen, Yanzhou Wang, Shuoshuo Wei, Bo Xiang, Yingzhou Shi, Zongyue Li, Yangyang Yao, Jin Xie, Renyuan Qiu, Meng Shu, Shuo Xu, Ping Chen, Zhiying Chen, Yingjie Wu, Weibo Xia, Ling Gao, Yongfeng Song, Jiajun Zhao, Chao Xu   +20 more
wiley   +1 more source

Burosumab in Unidentifiable Tumor‐Induced Osteomalacia

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Tumor‐induced osteomalacia (TIO) can be challenging due to underlying tumors being either unresectable or unidentifiable. Burosumab, an anti‐FGF23 monoclonal antibody, has been proven to be effective in treating TIO but is currently not subsidized for this indication in Australia.
Yi Shan Der, Santosh Chaubey, Anna Mclean, Yasmin Trinh, Shelley Pember, Ashim Sinha   +5 more
wiley   +1 more source

Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia

Frontiers in Cell and Developmental Biology, 2020
X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia, caused by inactivating mutations in the Phosphate-regulating endopeptidase homolog X-linked (PHEX) gene.
Carole-Anne Faraji-Bellée, Axelle Cauliez, Benjamin Salmon, Benjamin Salmon, Olivier Fogel, Volha Zhukouskaya, Volha Zhukouskaya, Aurélie Benoit, Thorsten Schinke, Christian Roux, Agnès Linglart, Agnès Linglart, Agnès Linglart, Corinne Miceli-Richard, Catherine Chaussain, Catherine Chaussain, Catherine Chaussain, Karine Briot, Karine Briot, Claire Bardet   +19 more
doaj   +1 more source

Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program

Frontiers in Endocrinology
X-linked hypophosphatemia (XLH) is a rare, genetic, progressive, lifelong disorder caused by pathogenic variants in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in excess fibroblast growth factor 23 (FGF23) and ...
Maria Luisa Brandi, Thomas O. Carpenter, Seiji Fukumoto, Dieter Haffner, Erik A. Imel, Masanori Kanematsu, Keith P. McCullough, Keiichi Ozono   +7 more
doaj   +1 more source

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

X‐Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

Journal of Paediatrics and Child Health, Volume 61, Issue 5, Page 685-700, May 2025.
ABSTRACT X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X‐linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae ...
Jessica L. Sandy, Andrew Biggin, Aris Siafarikas, Peter J. Simm, Christine P. Rodda, Craig F. Munns   +5 more
wiley   +1 more source

Pharmacodynamic Exposure–Response Analysis of Fracture Count Data Following Treatment with Burosumab in Patients with XLH

The Journal of Clinical Pharmacology, Volume 65, Issue 2, Page 253-260, February 2025.
Abstract X‐linked hypophosphatemia (XLH) is a rare genetic disorder caused by excessive fibroblast growth factor 23 (FGF23), leading to low serum phosphate levels resulting in increased risk of fractures and pseudofractures. Burosumab is indicated for the treatment of XLH.
Krina Mehta, Jose Storopoli, Nikita Ramwani, Emilia Quattrocchi, Joga Gobburu, Thomas Weber, Matthew W. Hruska, Douglas Marsteller   +7 more
wiley   +1 more source

Assessing Post‐Marketing Requirements for Orphan Drugs: A Cross‐Sectional Analysis of FDA and EMA Oversight

Clinical Pharmacology &Therapeutics, Volume 116, Issue 6, Page 1560-1571, December 2024.
The U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) oversee pharmaceutical regulations, including orphan drugs targeting rare diseases with limited patient populations. Post‐marketing studies are crucial for monitoring safety and efficacy, with post‐marketing requirements (PMRs) mandated by the regulatory agencies to ...
Jae Hyeon Yu, Sangwon Lee, Yoon Jung Kim, Won Young Kim, Min Jung Lee, Yun Kim   +5 more
wiley   +1 more source