Search Results
Educational Resources
A vacuole is a membrane-bound cell organelle.
… is a membrane-bound cell organelle. In animal cells, vacuoles are generally small and help sequester waste products. In plant cells, vacuoles help maintain water balance. Sometimes a single …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic … in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells. … have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… resides on the surface of cellular compartments called vacuoles. Vacuoles serve many purposes in the cell, including isolating …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) VEXAS (Vacuoles, E1 ligase, X-linked Autoinflammatory Syndrome) …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… life-threatening inflammatory disorder VEXAS (short for vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… diagnosis may be suggested by the presence of red-rimmed vacuoles (inclusions) in muscle biopsy tissue. Identification …