Results 171 to 180 of about 2,366 (190)

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

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

Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

Neurology, 2021
To identify fetal familial cerebral cavernous malformation (CCM) and a novel variation.A 37-year-old pregnant woman (G4P0) presented with right-handed numbness since 2 weeks at 31 weeks of gestation. Evaluation with brain MRI revealed multiple CCMs. As a result, fetal MRI, fetal whole exome sequencing, and maternal Sanger sequencing were performed.The ...
Dan Cheng, Xiang Shang, Wanli Gao, Frederik Barkhof, Yaou Liu   +4 more
openaire   +3 more sources

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

Nature Genetics, 1999
Cavernous angiomas are vascular malformations mostly located in the central nervous system and characterized by enlarged capillary cavities without intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and focal neurological deficits. Cavernous angiomas prevalence is close to 0.5% in the general population. They may be inherited
S, Laberge-le Couteulx, H H, Jung, P, Labauge, J P, Houtteville, C, Lescoat, M, Cecillon, E, Marechal, A, Joutel, J F, Bach, E, Tournier-Lasserve   +9 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

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

Annals of Neurology, 2003
AbstractCerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being characterized by the presence of multiple CCM lesions.
Christian, Denier, Pierre, Labauge, Laurent, Brunereau, Florence, Cavé-Riant, Florence, Marchelli, Minh, Arnoult, Michaelle, Cecillon, Jacqueline, Maciazek, Anne, Joutel, Elisabeth, Tournier-Lasserve   +9 more
openaire   +2 more sources

Cerebral cavernous malformations

Neurology, 2002
To find mutations in the recently identified additional exons of the Krit1 gene that causes CCM1, a disease characterized by the formation of cerebral cavernous malformations (CCM). To determine the relative frequency with which Krit1 mutations cause CCM as well as recharacterize the mutations reported in the literature.Twenty-seven families and 11 ...
D J, Verlaan, W J, Davenport, H, Stefan, U, Sure, A M, Siegel, G A, Rouleau   +5 more
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Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review

Journal of Molecular Neuroscience, 2013
Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations can present sporadically or familial, as a consequence of an autosomal dominant condition, with incomplete penetrance and variable clinical expression.
Grippaudo F. R., Piane M., Amoroso M., Longo B., Penco S., Chessa L., Giubettini M., Santanelli F.   +7 more
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Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality

World Neurosurgery, 2019
Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with ...
Victor M, Lu, David J, Daniels
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Isolation of Cerebral Endothelial Cells from CCM1/KRIT1 Null Mouse Brain

2020
Cerebral cavernous malformation (CCM) is driven by changes in the cerebral microvascular endothelial cell population. Mouse models of CCM have successfully recapitulated the disease in vivo; however, dissection of the disease pathogenesis and molecular mechanism is challenging in vivo due to limited access to the involved tissue in live animals ...
Nicholas, Nobiletti, Angela J, Glading
openaire   +2 more sources