Results 101 to 110 of about 43,529 (272)
BackgroundTumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia. Nonspecific symptoms make the diagnosis elusive. In addition, locating the responsible tumor(s) is challenging.
Q. Zuo +9 more
semanticscholar +1 more source
MECP2 insufficiency leads to upregulation of miR‐126‐3p, which in turn enhances the endogenous Wnt antagonist DKK1. DKK1 inhibits the canonical Wnt signaling pathway, thereby impairing RUNX2‐dependent osteoblast differentiation. ABSTRACT Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss‐of‐function mutations in the gene encoding ...
Shuangshan Dong +12 more
wiley +1 more source
Osteomalacia Induced by Renal Tubular Acidosis Type 1
Renal Tubular Acidosis, a group of disorders characterized by defective renal acid-base regulation, can impair mineralization of bone matrix in adults known as osteomalacia. RTA is classified into 3 major forms, such as proximal RTA or type 2; distal RTA
Steven Sutanto Sihombing +3 more
doaj +1 more source
Phospho1 deficiency transiently modifies bone architecture yet produces consistent modification in osteocyte differentiation and vascular porosity with ageing [PDF]
PHOSPHO1 is one of principal proteins involved in initiating bone matrix mineralisation. Recent studies have found that Phospho1 KO mice (Phospho1-R74X) display multiple skeletal abnormalities with spontaneous fractures, bowed long bones, osteomalacia ...
Carriero, A +11 more
core +4 more sources
Tumor-induced osteomalacia causing by phosphaturic mesenchymal tumor of the foot is exceedingly rare, thus may bring great challenges to the timely and proper diagnosis and treatment of clinicians.
Shuzhong Liu +6 more
semanticscholar +1 more source
Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders
Avascular Necrosis (AVN) and Minimal Trauma Fractures (MTF) cause significant morbidity in people with Telomere Biology Disorders (TBDs). They occur more frequently in young patients and in those with autosomal recessive (AR) or X‐linked recessive (XLR) than in autosomal dominant (AD) genotypes.
Arman M. Niknafs +3 more
wiley +1 more source
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 +7 more
wiley +1 more source
The article describes a case of combined osteoporosis and osteomalacia in a patient with Parkinson’s disease and vertebral pain syndrome. Osteomalacia caused by deficiency and metabolic disorders of vitamin D leads to osteoid mineralization impairment ...
V.V. Povoroznyuk +3 more
doaj +1 more source
Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm in which the tumor cells produce fibroblast growth factor 23 (FGF23), leading to oncogenic osteomalacia and thus a distinct clinical presentation.
Aidan Kerr +5 more
doaj +1 more source

