Results 171 to 180 of about 2,405 (204)

KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation

Pediatric Dermatology, 2021
AbstractCerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM). We report the case of an infant with a KRIT1‐positive HCCVM associated with familial CCM.
Bayan Matarneh, Catherine E. Cottrell, Samantha Choi, Gregory Pearson, Bonita Fung, Selene C. Koo, Anna P. Lillis, Mai‐Lan Ho, Esteban Fernandez Faith   +8 more
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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
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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
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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
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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

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

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
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Identification of the KRIT1 Protein by LexA-Based Yeast Two-Hybrid System

2020
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system that is associated with leaky capillaries, and a predisposition to serious clinical conditions including intracerebral hemorrhage and seizures. Germline or sporadic mutations in the CCM1/KRIT1 gene are responsible for the majority of cases of CCM.
Serebriiskii I.G., Elmekawy M., Golemis E.A.   +2 more
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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

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
openaire   +2 more sources