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Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.
Dulamea AO, Lupescu IC. Dulamea AO, et al. J Neurol Sci. 2024 Jun 15;461:123044. doi: 10.1016/j.jns.2024.123044. Epub 2024 May 12. J Neurol Sci. 2024. PMID: 38749279 Free article. Review.
CCMs may be sporadic or familial autosomal dominant (FCCMs) caused by loss of function mutations in CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) genes. In the FCCMs, patients have multiple CCMs, different family members are affected, and developmental venous anomalies a …
CCMs may be sporadic or familial autosomal dominant (FCCMs) caused by loss of function mutations in CCM1 (KRIT1), CCM2 (MGC4607), and …
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
Peyre M, Miyagishima D, Bielle F, Chapon F, Sierant M, Venot Q, Lerond J, Marijon P, Abi-Jaoude S, Le Van T, Labreche K, Houlston R, Faisant M, Clémenceau S, Boch AL, Nouet A, Carpentier A, Boetto J, Louvi A, Kalamarides M. Peyre M, et al. N Engl J Med. 2021 Sep 9;385(11):996-1004. doi: 10.1056/NEJMoa2100440. N Engl J Med. 2021. PMID: 34496175 Free PMC article.
Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), CCM2, or PDCD10 (CCM3), the genetic cause of sporadic CCMs, representing 80% of cases, remains incompletely understood. ...
Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), CCM2, or PDCD10 (CCM3), the genetic cause of sporadi …
Radiation-induced cerebral cavernous malformations.
Tsutsumi S, Ogino I, Sugiyama N, Ueno H, Ishii H, Kondo A. Tsutsumi S, et al. J Neurol Sci. 2025 Aug 15;475:123581. doi: 10.1016/j.jns.2025.123581. Epub 2025 Jun 11. J Neurol Sci. 2025. PMID: 40516174
In all cases, the pathological diagnosis was meningothelial meningioma. Genomic analysis of CCMs confirmed a CCM1 mutation in five patients. In four cases, the mutation was located in exon 5. In contrast, it was found in only one of the 46 patients with CCM who did not hav …
In all cases, the pathological diagnosis was meningothelial meningioma. Genomic analysis of CCMs confirmed a CCM1 mutation in five pa …
Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations.
Pham VC, Rödel CJ, Valentino M, Malinverno M, Paolini A, Münch J, Pasquier C, Onyeogaziri FC, Lazovic B, Girard R, Koskimäki J, Hußmann M, Keith B, Jachimowicz D, Kohl F, Hagelkruys A, Penninger JM, Schulte-Merker S, Awad IA, Hicks R, Magnusson PU, Faurobert E, Pagani M, Abdelilah-Seyfried S. Pham VC, et al. EMBO Mol Med. 2024 Nov;16(11):2827-2855. doi: 10.1038/s44321-024-00152-9. Epub 2024 Oct 14. EMBO Mol Med. 2024. PMID: 39402138 Free PMC article.
Cerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3/PDCD10 trigger a MAPK-Kruppel-like factor 2 (KLF2) signaling cascade, which induces a pathophysiological pattern of gene expression. ...
Cerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3 …
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
Sikta N, Gooley S, Green TE, Hoeper O, Witkowski T, Bennett C, Francis D, Reid J, Mao K, Awad M, Roberts-Thomson S, Bulluss K, Clark J, Scheffer IE, Perucca P, Bennett MF, Bahlo M, Berkovic SF, Hildebrand MS. Sikta N, et al. Hum Mol Genet. 2025 Jul 20;34(15):1286-1293. doi: 10.1093/hmg/ddaf077. Hum Mol Genet. 2025. PMID: 40401429 Free PMC article.
Subsequently, pathogenic germline variants in KRIT1/CCM1 or CCM2 were identified in all 9 multiplex families. Single or multiple exon deletions or splice site variants in KRIT1/CCM1 were found in 3/9 families. ...These 4 individuals were from separate families with …
Subsequently, pathogenic germline variants in KRIT1/CCM1 or CCM2 were identified in all 9 multiplex families. Single or multiple exon …
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
Li C, Liu P, Huang W, Wang H, Ma K, Zhuo L, Kang Y, He Q, Lin Y, Kang D, Lin F. Li C, et al. Neurogenetics. 2023 Apr;24(2):137-146. doi: 10.1007/s10048-023-00714-y. Epub 2023 Mar 9. Neurogenetics. 2023. PMID: 36892712
Family cerebral cavernous malformations (FCCMs) are mainly inherited through the mutation of classical CCM genes, including CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. FCCMs can cause severe clinical symptoms, including epileptic seizures, intracranial hemorrhage (ICH), or …
Family cerebral cavernous malformations (FCCMs) are mainly inherited through the mutation of classical CCM genes, including CCM1/KRIT …
Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature.
Pilz RA, Skowronek D, Mellinger L, Bekeschus S, Felbor U, Rath M. Pilz RA, et al. Int J Mol Sci. 2023 Feb 16;24(4):3993. doi: 10.3390/ijms24043993. Int J Mol Sci. 2023. PMID: 36835400 Free PMC article.
We here used RNA sequencing to study differential gene expression in CCM1 knockout induced pluripotent stem cells (CCM1(-/-) iPSCs), early mesoderm progenitor cells (eMPCs), and endothelial-like cells (ECs). ...These data suggest that a microenvironment of proangiog …
We here used RNA sequencing to study differential gene expression in CCM1 knockout induced pluripotent stem cells (CCM1(-/-) i …
Polymorphisms in genes related to oxidative stress and inflammation: Emerging links with the pathogenesis and severity of Cerebral Cavernous Malformation disease.
Perrelli A, Retta SF. Perrelli A, et al. Free Radic Biol Med. 2021 Aug 20;172:403-417. doi: 10.1016/j.freeradbiomed.2021.06.021. Epub 2021 Jun 24. Free Radic Biol Med. 2021. PMID: 34175437 Review.
Three disease genes have been identified: KRIT1 (CCM1), CCM2 and CCM3. Previous results demonstrated that loss-of-function mutations of CCM genes cause pleiotropic effects, including defective autophagy, altered reactive oxygen species (ROS) homeostasis, and enhanced sensi …
Three disease genes have been identified: KRIT1 (CCM1), CCM2 and CCM3. Previous results demonstrated that loss-of-function mutations …
Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
Galvão GDF, Trefilio LM, Salvio AL, da Silva EV, Alves-Leon SV, Fontes-Dantas FL, de Souza JM. Galvão GDF, et al. J Stroke Cerebrovasc Dis. 2024 Nov;33(11):107947. doi: 10.1016/j.jstrokecerebrovasdis.2024.107947. Epub 2024 Aug 23. J Stroke Cerebrovasc Dis. 2024. PMID: 39181174
We identified two novel pathogenic mutations, CCM1/KRIT1 c.811delT (p.Trp271GlyfsTer5) and CCM2/MGC4607 c.613_614insGG p.Glu205GlyfsTer31), which disrupt crucial protein domains and potentially alter disease progression. ...However, no statistically significant differences …
We identified two novel pathogenic mutations, CCM1/KRIT1 c.811delT (p.Trp271GlyfsTer5) and CCM2/MGC4607 c.613_614insGG p.Glu205GlyfsT …
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.
Lanfranconi S, Piergallini L, Ronchi D, Valcamonica G, Conte G, Marazzi E, Manenti G, Bertani GA, Locatelli M, Triulzi F, Bresolin N, Scola E, Comi GP. Lanfranconi S, et al. Metab Brain Dis. 2021 Oct;36(7):1871-1878. doi: 10.1007/s11011-021-00809-1. Epub 2021 Aug 6. Metab Brain Dis. 2021. PMID: 34357553
Causative mutations underlining CCM have been reported in three genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3. Therapeutic avenues are limited to surgery. Here we present clinical, neuroradiological and molecular findings in a cohort of familial and sporadic CCM patients …
Causative mutations underlining CCM have been reported in three genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3. Therapeutic avenues …
21 results