The multifaceted PDCD10/CCM3 gene
Genes and Diseases, 2021 The programmed cell death 10 (PDCD10) gene was originally identified as an apoptosis-related gene, although it is now usually known as CCM3, as the third causative gene of cerebral cavernous malformation (CCM).
Mariaelena Valentino +2 more
doaj +1 more source
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. [PDF]
, 2016 When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited ...
Skytte, Anne-Bine +2 more
core +6 more sources
Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]
Korean Journal of Pediatrics, 2016 Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang +5 more
doaj +1 more source
Case series of giant Cavernomas: Clinical presentation and management recommendations
Interdisciplinary Neurosurgery, 2022 Background: Cavernous malformations are vascular anomalies filled with blood at different stages, nonetheles, there is no precise definition for giant cavernomas. Literature suggests a cut-off at 6 cm to classify them as giant.
Christian J. Sandoval Ramírez +7 more
doaj +1 more source
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]
, 2015 PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L +16 more
core +2 more sources
Interrogating the ccm-3 Gene Network
Cell Reports, 2018 Summary: Cerebral cavernous malformations (CCMs) are neurovascular lesions caused by mutations in one of three genes (CCM1–3). Loss of CCM3 causes the poorest prognosis, and little is known about how it regulates vascular integrity. The C.
Benjamin Lant +9 more
doaj +1 more source
Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot. [PDF]
Mol Genet Genomic MedA potential association of CCM2L loss‐of ‐function variants with developmental anomalies of the heart. ABSTRACT Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Ling D +5 more
europepmc +2 more sources
A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]
, 2018 OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K. +2 more
core +2 more sources
Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution
eLife, 2020 Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage.
Fabrizio Orsenigo +13 more
doaj +1 more source
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients [PDF]
, 2017 [Objective] To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.[Methods] We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries
Delgado-Valverde, Mercedes +9 more
core +1 more source