Frontiers in Surgery, 2016 Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski +2 more
doaj +1 more source
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1 [PDF]
, 2016 Background Familial Cerebral Cavernous Malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions.
Hart B. L. +10 more
core +2 more sources
Magnetic Resonance Imaging of KRIT1 Associated Familial Cerebral Cavernous Malformations at 7‐Tesla
Neurology and Clinical Neuroscience, EarlyView.
Sam J. Neilson +3 more
wiley +1 more source
CIA5 and its interacting metal‐binding GTPase ZNG3 are degraded by the proteasome in Zn deficiency
The Plant Journal, Volume 127, Issue 1, July 2026.SUMMARY Carbon and zinc (Zn) metabolism are tightly connected in phototrophs, as carbonic anhydrases critical for CO2 assimilation are highly abundant Zn enzymes. The eukaryotic green alga Chlamydomonas (Chlamydomonas reinhardtii) maintains efficient phototrophic growth in ambient or low CO2 environments by establishing a carbon concentrating mechanism
George Kusi‐Appiah +5 more
wiley +1 more source
, 2020 International audienceCerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes.
Labauge, Pierre +12 more
core +1 more source
The function and regulation of CIA5/CCM1 in Chlamydomonas reinhardtii
, 2018 We demonstrate that CIA5, the master CCM transcription regulator of the Chlamydomonas CCM, has transcription activation activity either in yeast or in Chlamydomonas, and has an acidic activation domain that also is responsible for abnormal SDS-PAGE migration. We are also the first successful overexpression and purification of CIA5 protein from E. coli.,
openaire +3 more sources
Loss of flavonol 3‐O‐glucosyltransferase activity confers soybean resistance to leaf‐chewing insects
The Plant Journal, Volume 126, Issue 1, April 2026.Significance Statement The loss of flavonol 3‐O‐glucosyltransferase activity in soybean reduces feeding damage from defoliating insects and is accompanied by a concomitant increase in proanthocyanidins (red arrowhead). Unraveling the biochemical and genetic basis of soybean resistance to leaf‐chewing insects facilitates the development of new ...
P. K. Prabhakar +8 more
wiley +1 more source
CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan [PDF]
Scientific Reports, 2019 AbstractCerebral cavernous malformation (CCM) is a vascular malformation characterized by clustered enlarged capillary-like channels in the central nervous system. The genes harboring variants in patients with CCM includeCCM1/Krev interaction trapped-1,CCM2/MGC4607, andCCM3/programmed cell death protein 10.
Chun-Wei Chang +11 more
openaire +2 more sources
Cerebral cavernous malformation is a vascular disease associated with activated RhoA signaling [PDF]
, 2013 Cerebral cavernous malformation (CCM) involves the homozygous inactivating mutations of one of three genes, ccm1, -2, or -3 resulting in hyperpermeable blood vessels in the brain.
Borikova, Asya L. +3 more
core +1 more source
GERM-LINE/SOMATIC DNA COMPARISON IN SPORADIC PATIENTS WITH CEREBRAL CAVERNOUS MALFORMATIONS.
Euromediterranean Biomedical Journal, 2017 Cerebral cavernous malformations (CCMs) are benign tumours that affect brain capillaries. Although many cases remain asymptomatic, their incidence is steadily increasing.
Ivan Anchesi
doaj +1 more source