Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Alternatively spliced isoforms reveal a novel type of PTB domain in CCM2 protein

1 Nov 2019

Abstract excerpt

Cerebral cavernous malformations (CCMs) is a microvascular disorder in the central nervous system. Despite tremendous efforts, the causal genetic mutation in some CCM patients has not be identified, raising the possibility of an unknown CCM locus. The CCM2/MGC4607 gene has been identified as one of three known genes causing CCMs. In this report, we defined a total of 29 novel exons and 4 novel promoters in CCM2...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Intracerebral and Subarachnoid Hemorrhage Research
Share to Intracranial Aneurysms: Treatment and Complications
Share to Vascular Malformations Diagnosis and Treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31676827
DOI: 10.1038/s41598-019-52386-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alternatively spliced isoforms reveal a novel type of PTB domain in CCM2 proteinPMID 31676827Read ↗

<i>In silico</i> Analysis of Nonsynonymous Genomic Variants within <i>CCM2</i> Gene Reaffirm the Existence of Dual Cores within Typical PTB DomainSemantic proximity Read ↗

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

Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under constructionSemantic proximity Read ↗

From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease.Semantic proximity Read ↗

Surveying genetic variants and molecular phylogeny of cerebral cavernous malformation gene, CCM3/PDCD10.Semantic proximity Read ↗

Comprehensive CCM3 Mutational Analysis in Patients with Syndromic Cerebral Cavernous MalformationSemantic proximity Read ↗

The multifaceted PDCD10/CCM3 geneSemantic proximity Read ↗

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteinsSemantic proximity Read ↗

Comprehensive CCM3 Mutational Analysis in Two Patients with Syndromic Cerebral Cavernous Malformation.Semantic proximity Read ↗

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.Semantic proximity Read ↗

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.Semantic proximity Read ↗

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteinsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.