Results 141 to 150 of about 1,864 (178)

Familial cerebral cavernous malformations in a child with KRIT1 gene.

QJM: An International Journal of Medicine
Singanamalla Bhanudeep, B. B. Koneti
semanticscholar   +3 more sources

Mutations in KRIT1 in Familial Cerebral Cavernous Malformations

Neurosurgery, 2000
The recognition of six unrelated Hispanic-American families in which cerebral cavernous malformations (CCM) segregated as an autosomal dominant trait established a genetic basis for this disease. Linkage analysis subsequently identified locus heterogeneity with disease genes for CCM at chromosomal regions 7q, 7p, and 3q. Recently, mutations in KRIT1, a
J, Zhang, R E, Clatterbuck, D, Rigamonti, H C, Dietz   +3 more
openaire   +2 more sources

INTERACTION BETWEEN KRIT1 AND MALCAVERNIN

Neurosurgery, 2007
Cerebral cavernous malformations (CCM) are a relatively common autosomal dominant disorder leading to the formation of vascular malformations in the nervous system. Mutations in krit1 and malcavernin, the proteins encoded by the genes at the CCM1 and CCM2 loci, respectively, are responsible for the majority of CCMs.
Jun, Zhang, Daniele, Rigamonti, Harry C, Dietz, Richard E, Clatterbuck   +3 more
openaire   +2 more sources

Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

Neurology, 2021
Background and Objectives To identify fetal familial cerebral cavernous malformation (CCM) and a novel variation. Methods A 37-year-old pregnant woman (G4P0) presented with right-handed numbness since 2 weeks at 31 weeks of gestation.
Dan Cheng, X. Shang, Wanli Gao, F. Barkhof, Yaou Liu   +4 more
semanticscholar   +1 more source

KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses.

Cellular Signalling, 2020
Cerebral cavernous malformation (CCM) is a cerebrovascular disorder of proven genetic origin characterized by abnormally dilated and leaky capillaries occurring mainly in the central nervous system, with a prevalence of 0.3-0.5% in the general population.
Federica Finetti, I. Schiavo, Jasmine Ercoli, A. Zotta, E. Boda, S. Retta, L. Trabalzini   +6 more
semanticscholar   +1 more source

Protein Kinase Cα (Pkcα) Regulates the Nucleocytoplasmic Shuttling of KRIT1

The FASEB Journal, 2021
KRIT1 is a scaffolding protein that regulates endothelial barrier function, endothelial cell‐matrix adhesion, and redox homeostasis and signaling. However, rather little is known about how KRIT1 is itself regulated.
A. Glading, E. De Luca, A. Perrelli, Harsha Swamy, M. Nitti, M. Passalacqua, A. Furfaro, A. Salzano, A. Scaloni, S. Retta   +9 more
semanticscholar   +1 more source

KRIT1 stabilizes endothelial adherens junctions independent of Rap1 via regulation of β1‐integrin

The FASEB Journal, 2021
The junctional scaffold KRIT1 interacts with adherens junctions (AJ) proteins to stabilize endothelial cell‐cell contacts. Loss of KRIT1 function leads to Cerebral Cavernous Malformations (CCM), a disease characterized by leaky vascular lesions as the ...
Harsha Swamy, A. Glading
semanticscholar   +1 more source

Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease

American Journal of Medical Genetics. Part A, 2021
Cerebral cavernous malformations (CCMs) of the central nervous system arise sporadically or secondary to genomic variation. Established genetic etiologies include deleterious variants in KRIT1 (CCM1), malcavernin (CCM2), and PDCD10 (CCM3).
Ashley Moller-Hansen, Stephanie Huynh, C. Boerkoel, H. Chin   +3 more
semanticscholar   +1 more source

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia

European Journal of Medical Genetics, 2009
Cerebral cavernous malformations (CCMs) are CNS vascular anomalies associated with seizures, headaches and hemorrhagic strokes and represent 10-20% of cerebral lesions. CCM is present in 0.1-0.5 of the population. This disorder most often occurs sporadically but may also be familial.
CAU, MILENA, LOI M, MELIS M, CONGIU R, LOI A, MELONI, CRISTIANA, SERRENTI, MARIANNA, ADDIS, MARIA, MELIS MA   +8 more
openaire   +2 more sources

KRIT1 MODULATES β1-INTEGRIN-MEDIATED ENDOTHELIAL CELL PROLIFERATION

Neurosurgery, 2008
Using ribonucleic acid interference on cultured cell lines, we examined the role of Krev interaction trapped 1 (krit1) and integrin cytoplasmic domain-associated protein-1 alpha (icap1alpha) in beta1-integrin-mediated cell proliferation.Upon depletion of either krit1 or icap1alpha in the HeLa cells, umbilical vein endothelial cells, and microvascular ...
Jun, Zhang, Sharmila, Basu, Daniele, Rigamonti, Harry C, Dietz, Richard E, Clatterbuck   +4 more
openaire   +2 more sources