Hippel-Lindau disease - определение. Что такое Hippel-Lindau disease
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Что (кто) такое Hippel-Lindau disease - определение

A RARE GENETIC DISORDER CHARACTERIZED BY VISCERAL CYSTS AND BENIGN TUMORS IN MULTIPLE ORGAN SYSTEMS WITH POTENTIAL FOR SUBSEQUENT MALIGNANT CHANGE.
Von Hippel-Lindau Disease; Von Hippel-Lindau syndrome; VHL syndrome; VHL disease; Hippel-lindau disease; Cerebelloretinal Angiomatosis, familial; Angiomatosis retinae; Von Hippel-Lindau; Von Hippel Lindau; Von Hippel Lindau syndrome; Vhld; Von Hippel–Lindau syndrome; Von Hippel-Lindau disease; Von Hippel – Lindau syndrome; Angiomatosis retinate; Lindau-von Hippel disease; Lindau’s disease; Lindau's disease; Von Hippel-Lindau's disease; Von Hippel – Lindau disease; Von Hippel - Lindau syndrome; Von Hippel - Lindau disease; Von Hippel–Lindau Disease; Von Hippel–Lindau
  • The regulation of HIF1α by pVHL. Under normal oxygen levels, HIF1α binds pVHL through 2 hydroxylated proline residues and is polyubiquitinated by pVHL. This leads to its degradation via the proteasome. During hypoxia, the proline residues are not hydroxylated and pVHL cannot bind. HIF1α causes the transcription of genes that contain the hypoxia response element. In VHL disease, genetic mutations cause alterations to the pVHL protein, usually to the HIF1α binding site.
  • Original Von Hippel's description of disease
  • Typical distribution of hemangioblastomas in Von Hippel–Lindau disease.
  • [[Slit lamp]] photograph showing [[retinal detachment]] in Von Hippel–Lindau disease

Prefoldin subunit 3         
INTERPRO FAMILY
Von Hippel Lindau Binding protein 1; VBP1; Von Hippel-Lindau binding protein 1; Von Hippel–Lindau binding protein 1
Prefoldin subunit 3 (VBP-1), also Von HippelLindau binding protein 1, is a prefoldin chaperone protein that binds to von HippelLindau protein and transports it from perinuclear granules to the nucleus or cytoplasm inside the cell. It is also involved in transporting nascent polypeptides to cytosolic chaperonins for post-translational folding.
Robert von Hippel         
GERMAN JURIST AND UNIVERSITY LECTURER (1866–1951)
User:AWikipediaEditor99/sandbox/Robert von Hippel; Draft:Robert von Hippel; User:Thomasdowding/sandbox/Robert von Hippel
Robert Wilhelm Ferdinand von Hippel (8 July 1866Professors and lecturers at the Christian-Albrechts-Universität zu Kiel 1665–1915, Retrieved 2 March 2021 - 16 June 1951History of Göttingen 1951, Published 28 November 2015, Retrieved 2 March 2021) was a German jurist and University lecturer born in Königsberg.
Gustav Lindau         
GERMAN BOTANIST (1866-1923)
Gustav Lindau (2 May 1866 in Dessau – 10 October 1923 in Berlin), was a German mycologist and botanist.

Википедия

Von Hippel–Lindau disease

Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.