Article

Genetic Genealogy Uncovers a Founder Deletion Mutation in the Cerebral Cavernous Malformations 2 Gene

2021-12-20

Abstract excerpt

Cerebral cavernous malformations (CCM) are vascular malformations consisting of collections of enlarged capillaries occurring in the brain or spinal cord. These vascular malformations can occur sporadically or susceptibility to develop these can be inherited as an autosomal dominant trait due to mutation in one of three genes. Over a decade ago, we described a 77.6 Kb germline deletion spanning exons 2-10 in the C...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cdfa78cc-e23b-535d-88d9-51d3c58d4056
DOI: 10.21203/rs.3.rs-1167740/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic Genealogy Uncovers a Founder Deletion Mutation in the Cerebral Cavernous Malformations 2 GeneDOI 10.21203/rs.3.rs-1167740/v1Read

Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.Semantic proximity Read

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.Semantic proximity Read

Genetics of cerebral cavernous malformations: current status and future prospects.Semantic proximity Read

Deletions in CCM2 are a common cause of cerebral cavernous malformations.Semantic proximity Read

Molecular Genetic Screening of CCM Patients: An Overview.Semantic proximity Read

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.Semantic proximity Read

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.Semantic proximity Read

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.Semantic proximity Read

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.Semantic proximity Read

Cerebral Cavernous Malformations: Review of the Genetic and Protein–Protein Interactions Resulting in Disease PathogenesisSemantic proximity Read

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformationsSemantic proximity Read

Gene symbol: CCM2. Disease: Cerebral Cavernous Malformations.Semantic proximity Read