Results 11 to 20 of about 1,327 (129)

Wnt pathway inhibitors are upregulated in XLH dental pulp cells in response to odontogenic differentiation

International Journal of Oral Science, 2023
X-linked hypophosphatemia (XLH) represents the most common form of familial hypophosphatemia. Although significant advances have been made in the treatment of bone pathology, patients undergoing therapy continue to experience significantly decreased oral
Elizabeth Guirado, Cassandra Villani, Adrienn Petho, Yinghua Chen, Mark Maienschein-Cline, Zhengdeng Lei, Nina Los, Anne George   +7 more
doaj   +1 more source

Regulation of Phosphate Transporters and Novel Regulator of Phosphate Metabolism

Endocrines, 2023
Phosphorus is essential for all living organisms. It plays an important role in maintaining biological functions, such as energy metabolism, cell membrane formation, and bone mineralization.
Megumi Koike, Minori Uga, Yuji Shiozaki, Ken-ichi Miyamoto, Hiroko Segawa   +4 more
doaj   +1 more source

Longitudinal Single-Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X-Linked Hypophosphatemia. [PDF]

Pediatr Discov
This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Xie Y, Li L, Li R, Sun Y, Zhou T, Cun Y, Zhu G.   +6 more
europepmc   +2 more sources

X-Linked Hypophosphatemia Transition and Team Management

Endocrines, 2022
X-linked hypophosphatemia (XLH) is the most common form of inherited disorders that are characterized by renal phosphate wasting, but it is a rare chronic disease.
Takuo Kubota
doaj   +1 more source

What are the benefits of the anti-FGF23 antibody burosumab on the manifestations of X-linked hypophosphatemia in adults in comparison with conventional therapy? A review

Therapeutic Advances in Rare Disease, 2022
X-linked hypophosphatemia (XLH) is a genetic disease mostly related to PHEX gene mutations which increases FGF23 serum levels, leading to hypophosphatemia and osteomalacia in adults, while affected children, in addition, develop rickets.
Marie-Hélène Lafage-Proust
doaj   +1 more source

The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology

Life, 2021
The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab.
Jon Vincze, Brian W. Skinner, Katherine A. Tucker, Kory A. Conaway, Jonathan W. Lowery, Julia M. Hum   +5 more
doaj   +1 more source

FGF23 and its role in X-linked hypophosphatemia-related morbidity

Orphanet Journal of Rare Diseases, 2019
Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired ...
Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala, Outi Mäkitie   +9 more
doaj   +1 more source

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the <i>PHEX</i> Gene. [PDF]

Hum Mutat
X‐linked hypophosphatemia (XLH), primarily caused by mutations of the PHEX gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets, and impaired growth.
Li D, Peng W, Kang L, Geng J, Lu Y, Lu J.   +5 more
europepmc   +2 more sources

Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review

JBMR Plus, 2023
Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X‐linked hypophosphatemia (XLH), is less common and is
Craig F Munns, Edward P Maguire, Angela Williams, Sue Wood, Andrew Biggin   +4 more
doaj   +1 more source

Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia

Endocrines, 2023
X-linked hypophosphatemia (XLH) is a rare type of hereditary hypophosphatemic rickets. Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3, SF36-PCS, and SF36-MCS in adult patients and SF-10 and PDCOI in pediatric ...
Kento Ikegawa, Yukihiro Hasegawa
doaj   +1 more source