KRIT1 is an 84kDa protein that lacks any relevant catalytic domains, associated with the cerebral cavernous malformation disease. We have investigated by means of ultrastructural immunocytochemistry the nuclear distribution of KRIT1 in different cell lines, revealing its unexpected localization on actively transcribing nuclear domains such as the perichromatin fibrils and the nucleolar dense fibrillar component. These preliminary data indicate a still undescribed and unknown role for KRIT1 inside the nucleus.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980215 | PMC |
| http://dx.doi.org/10.4081/ejh.2014.2358 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Gene mutations in patients with hereditary cavernous malformations].
Zh Nevrol Psikhiatr Im S S Korsakova
November 2017
Burdenko Scientific Research Neurosurgery Institute, Moscow, Russia.
Aim: To identify mutations in cerebral cavernous malformation (CCM) genes in patients with hereditary and sporadic CCMs in the Russian population.
Material And Methods: Blood samples from 73 randomly selected patients, including 29 MRI-confirmed familial cases, 8 clinically confirmed familial cases and 38 so-called sporadic cases, were examined. A search for large deletions/duplications was performed using multiplex ligation-dependent probe amplification (MPLA).
Cerebral cavernous malformations with diffuse manifestation: A benign entity?
J Neurol Sci
August 2016
Department of Neurological Surgery, Juntendo University Urayasu Hospital, Urayasu, Chiba, Japan.
Purpose: Cerebral cavernous malformations (CCMs) are a distinct cerebrovascular disease. A fraction of CCMs present as diffuse manifestations distributed over the cerebral hemispheres, cerebellum, and brainstem. The purpose of the present study was to explore the clinical picture of such CCMs.
View Article and Find Full Text PDFSNP discovery in candidate adaptive genes using exon capture in a free-ranging alpine ungulate.
Mol Ecol Resour
September 2016
Fish and Wildlife Genomics Group, Division of Biological Sciences, University of Montana, Missoula, MT, 59812, USA.
Identification of genes underlying genomic signatures of natural selection is key to understanding adaptation to local conditions. We used targeted resequencing to identify SNP markers in 5321 candidate adaptive genes associated with known immunological, metabolic and growth functions in ovids and other ungulates. We selectively targeted 8161 exons in protein-coding and nearby 5' and 3' untranslated regions of chosen candidate genes.
View Article and Find Full Text PDFKRIT1 is an 84kDa protein that lacks any relevant catalytic domains, associated with the cerebral cavernous malformation disease. We have investigated by means of ultrastructural immunocytochemistry the nuclear distribution of KRIT1 in different cell lines, revealing its unexpected localization on actively transcribing nuclear domains such as the perichromatin fibrils and the nucleolar dense fibrillar component. These preliminary data indicate a still undescribed and unknown role for KRIT1 inside the nucleus.
View Article and Find Full Text PDFCCM1-ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodeling.
J Cell Biol
August 2013
INSERM U823, Institut Albert Bonniot, Grenoble F-38042, France.
The endothelial CCM complex regulates blood vessel stability and permeability. Loss-of-function mutations in CCM genes are responsible for human cerebral cavernous malformations (CCMs), which are characterized by clusters of hemorrhagic dilated capillaries composed of endothelium lacking mural cells and altered sub-endothelial extracellular matrix (ECM). Association of the CCM1/2 complex with ICAP-1, an inhibitor of β1 integrin, prompted us to investigate whether the CCM complex interferes with integrin signaling.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!