Results 41 to 50 of about 187,796 (197)
Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde +2 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
Abstract Background Tenosynovial giant cell tumor (TGCT) is a locally aggressive neoplasm caused by dysregulation of the colony‐stimulating factor 1 (CSF1) gene. Patients report substantial pain, stiffness, and declining physical function; those whose disease is not amenable to surgery require systemic therapy.
Silvia Stacchiotti +31 more
wiley +1 more source
Type 5 Diabetes Mellitus: Pathophysiology, Clinical Phenotype, and Nutritional Management
ABSTRACT Type 5 Diabetes Mellitus (T5DM) is an emerging diabetes phenotype linked to chronic undernutrition. It predominantly affects young, lean individuals in low‐ and middle‐income countries. After its formal recognition by the International Diabetes Federation in 2025, T5DM resurfaced as a clinically relevant insulin‐deficient phenotype.
İrem Nur Şahin Anılgan +1 more
wiley +1 more source
John A Glaspy,1 Michelle Z Lim-Watson,2 Michael A Libre,3 Swagata S Karkare,3 Nandini Hadker,3 Aleksandra Bajic-Lucas,2 William E Strauss,2 Naomi V Dahl2 1UCLA School of Medicine, Los Angeles, CA, USA; 2AMAG Pharmaceuticals, Inc., Waltham, MA, USA ...
Glaspy JA +7 more
core
Familial Ménière's disease: clinical and genetic aspects [PDF]
Background and purpose:Mre's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected ...
Morrison, A W +2 more
core +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
Advances in FGF/FGFR Signaling: Implications for Disease and Therapy
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song +4 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
We report a case of a 22‐year‐old woman with predominantly cutaneous involvement in whom whole‐exome sequencing from both blood‐ and hair‐derived DNA samples identified somatic mosaicism for the rare HRAS p.Gly13Asp variant. This case expands the phenotypic spectrum of Costello syndrome and underscores the importance of multitissue genomic analysis ...
Jovan Lalosevic +6 more
wiley +1 more source

