Results 51 to 60 of about 3,965 (174)
The Role of Wnt Signaling in Age‐Related Alveolar Bone Loss and Regeneration
The graphical abstract summarizes key signaling pathways involved in bone formation and resorption associated with Wnt signaling across young and aged long bone and jaw tissues. Levels of evidence are indicated as robust, moderate, or emerging, reflecting the current experimental support in each context.
Hsiao H. Sung +12 more
wiley +1 more source
Familial hypophosphatemic rickets
Rickets is the failure of mineralization 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 the serum phosphate levels leading to inadequate ...
Sattur A +3 more
doaj
Chronic Hyperphosphatemia and Vascular Calcification Are Reduced by Stable Delivery of Soluble Klotho [PDF]
αKlotho (αKL) regulates mineral metabolism, and diseases associated with αKL deficiency are characterized by hyperphosphatemia and vascular calcification (VC).
Bhaskaran, Manoj +10 more
core +1 more source
ABSTRACT Introduction Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of non‐Hodgkin lymphoma, and despite advances in frontline therapies such as rituximab, cyclophosphamide, doxorubicin hydrochloride (hydroxydaunorubicin), vincristine sulfate (Oncovin), and prednisone, approximately 30%–40% of patients develop relapsed or refractory (
Dana Sofian Abou +6 more
wiley +1 more source
Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report
Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate ...
Anna S. Nechaeva +5 more
doaj +1 more source
Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). [PDF]
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, aggressive tumor that primarily affects young women. SCCOHT has recently been identified as a monogenic disorder caused by germline and/or somatic SMARCA4 mutations.
Bailey, Shivani +8 more
core +2 more sources
A new metabolic path in type 3 rickets
Rickets, a bone disorder, was historically categorised into either nutritional (vitamin D deficiency) or genetic forms involving loss‐of‐function mutations in mineral metabolism. Recently, a new mechanism, type 3 rickets, was discovered to be caused by a gain‐of‐function mutation in CYP3A4 (Ile301Thr).
Toshiya Senda, Yoshihisa Hirota
wiley +1 more source
Hipoparatiroidismo e pseudohipoparatiroidismo [PDF]
The principal function of the parathyroid hormone (PTH) is maintenance of calcium plasmatic levels, withdrawing the calcium from bone tissue, reabsorbing it from the glomerular filtrate, and indirectly increasing its intestinal absorption by stimulating ...
Borba, Victoria Zeghbi Cochenski +4 more
core +3 more sources
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
Background Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene.
Hugo Hernán Abarca-Barriga +4 more
doaj +1 more source

