Results 21 to 30 of about 1,505 (162)

PHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolism. [PDF]

PLoS ONE, 2014
ContextPHEX or DMP1 mutations cause hypophosphatemic-rickets and altered energy metabolism. PHEX binds to DMP1-ASARM-motif to form a complex with α5β3 integrin that suppresses FGF23 expression.
Lesya V Zelenchuk, Anne-Marie Hedge, Peter S N Rowe   +2 more
doaj   +1 more source

Scientific Production on Familial Hypophosphatemic Rickets in Scopus (2000-2022)

, 2023
An observational, descriptive, and cross-sectional study was conducted through a bibliometric analysis of the scientific output of Familial Hypophosphatemic Rickets published in journals indexed in Scopus.
Rodríguez Suárez, Julián, Gil-Peña, Helena, Corrales Reyes, Ibrain Enrique, Oro Carbajosa, Patricia, Fuente Pérez, Rocío, López García, José Manuel, Hernández-García, Frank   +6 more
core   +1 more source

MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. [PDF]

PLoS ONE, 2013
Mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) cause X-linked familial hypophosphatemic rickets (XLH), a disorder having severe bone and tooth dentin mineralization defects.
Benjamin Salmon, Claire Bardet, Mayssam Khaddam, Jiar Naji, Benjamin R Coyac, Brigitte Baroukh, Franck Letourneur, Julie Lesieur, Franck Decup, Dominique Le Denmat, Antonino Nicoletti, Anne Poliard, Peter S Rowe, Eric Huet, Sibylle Opsahl Vital, Agnès Linglart, Marc D McKee, Catherine Chaussain   +17 more
doaj   +1 more source

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets. [PDF]

Adv Sci (Weinh)
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 ...
Wu H, Zhao W, Chen X, Wang Y, Wei S, Xiang B, Shi Y, Li Z, Yao Y, Xie J, Qiu R, Shu M, Xu S, Chen P, Chen Z, Wu Y, Xia W, Gao L, Song Y, Zhao J, Xu C.   +20 more
europepmc   +2 more sources

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Brazilian Journal of Nephrology, 2020
Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent ...
Rachita Singh Dhull, Reena Jain, Bobbity Deepthi, Hae II Cheong, Abhijeet Saha, Mohit Mehndiratta, Srikanta Basu   +6 more
doaj   +2 more sources

An unusual case of familial hypophosphatemic rickets

International Journal of Contemporary Pediatrics, 2023
Rickets is the failure of mineralisation of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in serum phosphate level leading to inadequate mineralization of cartilage and bone, consequent skeletal deformities and growth retardation.
Leny E. Bhadke, Suryakant Y. Ingale, Prathamesh S. Shinde   +2 more
openaire   +1 more source

Spring technique for correction of multilevel deformity using hexapod external fixator

Journal of Limb Lengthening & Reconstruction, 2018
Context: Osteotomies in several parts of one long bone are recommended for correction of a long, curved, and wide-angled deformity. Hexapod external fixators (HEFs) allow for the single-stage correction of multiplanar deformity, but they are heavy ...
Leonid N Solomin, Munetomo Takata, Elena A Shchepkina, Fanil Sabirov, Konstantin L Korchagin, Hiroyuki Tsuchiya   +5 more
doaj   +1 more source

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

BMC Pediatrics, 2023
Abstract Background Hereditary hypophosphatasia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Case presentation To learn about the clinical presentation and treatment of the disease, we performed Clinical ...
Lufeng Wang, Gulimire Kulaixi, Jiazireya Zaiyinati, Guzhalikezi Aibai, Danyang Du, Yanying Guo   +5 more
openaire   +3 more sources

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene [PDF]

European Journal of Endocrinology, 2009
ContextX-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common clinical features including high fibroblast growth factor 23 (FGF23) levels. These diseases are caused by mutations in phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and ...
Tasuku, Saito, Yutaka, Nishii, Toshiyuki, Yasuda, Nobuaki, Ito, Hisanori, Suzuki, Takashi, Igarashi, Seiji, Fukumoto, Toshiro, Fujita   +7 more
openaire   +2 more sources

Characterization of native FGF23 protein and mutant forms causing autosomal dominant hypophosphatemic rickets and familial tumoral calcinosis [PDF]

, 2005
The regulation of phosphate metabolism is a complex process that is still only partly understood. At the end of the eighties, studies in a mouse model for hypophosphatemic rickets provided evidence that phosphate wasting could not be explained by a ...
Benet-Pagès, Anna, Benet-Pagès, A.
core