Results 51 to 60 of about 7,727 (215)

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Case Reports in Genetics, 2015
X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with
Tetsuya Kawahara, Hiromi Watanabe, Risa Omae, Toshiyuki Yamamoto, Tetsuya Inazu   +4 more
doaj   +1 more source

Dental manifestations of the hypophosphatemic rickets: A case report [PDF]

Stomatološki glasnik Srbije, 2020
Rickets is a disorder of bone mineralization in children's skeleton. It is most often associated with vitamin D deficiency, however, it can also occur due to a decrease in serum phosphate levels, which leads to inadequate tissue mineralization, with ...
Popović Jelena, Nikolić Marija, Barac Radomir, Stošić Nenad, Kostić Milena, Miljković Dušan, Miljković Petar   +6 more
doaj  

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

Frontiers in Endocrinology, 2022
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities.
Lea Maria Merz, Florian Buerger, Niels Ziegelasch, Martin Zenker, Ilse Wieland, Tobias Lipek, Tillmann Wallborn, Nicolas Terliesner, Freerk Prenzel, Manuela Siekmeyer, Katalin Dittrich   +10 more
doaj   +1 more source

Increased Metabolic Rate in X-linked Hypophosphatemic Mice [PDF]

, 1986
Hyp mice are a model for human X-linked hypophosphatemia, the most common form of vitamin D-resistant rickets. It has previously been observed that Hyp mice have a greater food consumption per gram body weight than do normal mice.
Meyer, M. H., Meyer, Ralph A., Vaughn, Linda K.   +2 more
core   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Genetic diseases of renal phosphate handling [PDF]

, 2006
UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Wagner, Carsten A., Rubio-Aliaga, Isabel, Biber, Jürg, Hernando, Nati   +3 more
core   +3 more sources

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

Dental abnormalities and oral health in patients with Hypophosphatemic rickets

Clinics, 2010
INTRODUCTION: Hypophosphatemic rickets represents a group of heritable renal disorders of phosphate characterized by hypophosphatemia, normal or low serum 1,25 (OH)2 vitamin D and calcium levels.
Melissa Almeida Souza, Luiz Alberto Valente Soares Junior, Marcela Alves dos Santos, Maria Helena Vaisbich   +3 more
doaj   +1 more source

A bedridden young lady with hypophosphatemic rickets treated with denosumab: a case report

Journal of Medical Case Reports, 2021
Background Hypophosphatemic rickets is associated with delayed walking, bone deformities, growth failure and physical dysfunction that can limit daily activities. Treatment consists of phosphate salts and calcitriol.
Butheinah A. Al-Sharafi, Nuha A. Al-Yousfi, Said A. Bamashmus   +2 more
doaj   +1 more source

It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use

Clinical Case Reports, 2017
Key Clinical Message Rickets is not a disease of the past. We described a toddler who developed hypophosphatemic rickets associated with the use of elemental formula.
Kamal Abulebda, Samer Abu‐Sultaneh, Riad Lutfi   +2 more
doaj   +1 more source