12 research outputs found
Cervical Necrotizing Fasciitis of Odontogenic Origin in a Diabetic Patient Complicated by Substance Abuse
Sternoclavicular Graft Versus Costochondral Graft In Reconstruction of Ankylosed Temporomandibular Joint
Impact of Mandibular Distraction Osteogenesis on the Oropharyngeal Airway in Adult Patients with Obstructive Sleep Apnea Secondary to Retroglossal Airway Obstruction
Large olfactory neuroblastoma (esthesioneuroblastoma) surgically treated with an Altemir technique modification: a case report
Autogenous Reconstructive Modalities of TMJ Ankylosis-A Retrospective Analysis of 45 Cases
Comparative evaluation of thickness of jaw-closing muscles in patients with long-standing bilateral temporomandibular joint ankylosis: a retrospective case-controlled study
Assessment of the Effects of Curacel and Bone Wax on the Acute Oroantral Opening Site by means of Computer Tomography and Histopathology
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC