Results 81 to 90 of about 9,343 (245)

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

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

Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia

Frontiers in Cell and Developmental Biology, 2021
X-linked hypophosphatemia (XLH) is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in an excess of circulating intact fibroblast growth factor-23 (iFGF-23) and a waste of renal phosphate.
Xiaoyun Lin, Shanshan Li, Zhenlin Zhang, Hua Yue   +3 more
doaj   +1 more source

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +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

Growth hormone treatment improves final height in children with X-linked hypophosphatemia

Orphanet Journal of Rare Diseases, 2022
Background/aim Despite optimal conventional treatment (oral phosphate supplements and active vitamin D analogs), about 40–50% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, making them less likely to achieve ...
Julia André, Volha V. Zhukouskaya, Anne-Sophie Lambert, Jean-Pierre Salles, Brigitte Mignot, Claire Bardet, Catherine Chaussain, Anya Rothenbuhler, Agnès Linglart   +8 more
doaj   +1 more source

Cardiovascular Abnormalities in Patients with X-Linked Hypophosphatemia [PDF]

The Journal of Clinical Endocrinology & Metabolism, 1997
Treatment for X-linked hypophosphatemia (XLH; vitamin D metabolites and phosphate salts) may result in hypercalcemia, hypercalciuria, nephrocalcinosis, and hyperparathyroidism. Cardiovascular abnormalities occur in association with these complications, but have not been reported in XLH.
R, Nehgme, J T, Fahey, C, Smith, T O, Carpenter   +3 more
openaire   +2 more sources

A Giant Parathyroid Adenoma Presenting as Coughs and Dyspnea in a Young Woman: A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT A parathyroid adenoma is defined as a benign tumor in the parathyroid glands. A type of parathyroid adenoma is giant parathyroid adenoma that weighs > 3.5 g and has a size of more than 2 cm. A 37‐year‐old woman presented with coughs and dyspnea without fever, hemoptysis, and weight loss. Examination of the patient revealed a diffusely enlarged
Somayeh Chahkandi, Nasrin Amiri‐Dashatan, Mehdi Koushki, Mojgan Sanjari   +3 more
wiley   +1 more source

Burosumab - new potent treatment for X-linked hypophosphatemia and tumor-induced osteomalacia

Journal of Education, Health and Sport, 2023
Introduction and purpose: Elevated FGF23 in X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) leads to systemic hypophosphatemia, several musculoskeletal manifestations and rickets in children. In this review we describe advances in
Magda Wojtuś, Sebastian Tomaszuk, Karolina Wąsik   +2 more
doaj   +1 more source

Fosfaattiaineenvaihdunnan säätely ja häiriöt [PDF]

, 2016
•La­bo­ra­to­riossa mi­tattu plasman fos­fori ku­vaa pääo­sin fos­faattia. Klii­ni­sessä työs­sä ter­mejä ”fos­fori” ja ”fos­faatti” käy­tetään usein syno­nyy­meinä. •Plasman fos­faatti hei­jastaa huo­nosti ko­ko ke­hon fosfaat­ti­va­ras­toja.
Koistinen, Heikki, Miettinen, Helena
core