Resultado de búsqueda
Hace 1 día · They can occur sporadically or as a feature of von Hippel-Lindau (VHL) disease, an autosomal dominantly inherited tumor syndrome. Patients with VHL disease can be affected by central nervous system hemangioblastomas, clear cell renal cell carcinomas, pancreatic neuro-endocrine tumors, pheochromocytomas and other tumors.
Hace 12 horas · However, most available longitudinal data emerge from the study of patients harboring von Hippel–Lindau (VHL) disease, caused by the germline mutation of the VHL gene. These lesions are, when compared with their sporadic counterparts, smaller, multifocal, and present earlier, generally at the third decade of life.
Hace 3 días · The phakomatoses (also known as neurocutaneous syndromes) are a heterogeneous group of disorders most characterized by the involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin, and eyes), although other systems may also be involved.
Hace 12 horas · The von Hippel–Lindau (VHL) tumor suppressor substrate receptor interacts with the CRL2 complex (adaptor subunits Elongin B and Elongin C, scaffold subunit Cullin 2, and the RING-containing protein Rbx1), forming Cullin RING ligase complex CRL2 VHL [19, 20].
Hace 1 día · [1,2] These manifestations are commonly described in a few different syndromes — for example, Von Hippel-Lindau syndrome (VHL), hereditary papillary RCC, hereditary leiomyomatosis and RCC, Birt ...
Hace 5 días · Hydroxylated proline facilitates binding with von Hippel-Lindau protein (VHL), leading to ubiquitin ligase-mediated degradation by proteasomes. This reaction requires oxygen, α-ketoglutarate, and ascorbate as cofactors.
Hace 3 días · Pronounced Conjunctival Vascular Engorgement in Von Hippel-Lindau Syndrome. A 37-year-old woman presented with redness and pain in her right eye. Visual acuity was no light perception, and intraocular pressure was 45 mmHg in the right eye. Slit lamp examination revealed markedly dilated and tortuous conjunctival and episcleral vessels and angle ...
