Results 181 to 190 of about 2,366 (190)

Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations

Annals of Neurology, 2001
AbstractMutations in the Krit1 gene have been recently discovered as the cause of hereditary cerebral cavernous angioma. We sought the possibility that de novo, noninherited mutations of Krit1 also cause cavernous angioma. A patient with two cerebral malformations carries a heterozygous deletion of two base pairs (741delTC) in exon VI of the Krit1 gene.
M, Lucas, A F, Costa, M, Montori, F, Solano, M D, Zayas, G, Izquierdo   +5 more
openaire   +2 more sources

KRIT1 helps cells to prevent oxidative stress.

2010
KRIT1 is a gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral hemorrhage.
GOITRE, Luca, BALZAC, Fiorella, DEGANI, Simona, Degan P., RETTA, Saverio Francesco   +4 more
openaire   +2 more sources

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Human genetics, 2007
no abstract ...
Limaye, Nisha, Revencu, Nicole, Van Regemorter, Nicole, Garzon, M., Bonduelle, M, Chung, W, Daras, M D, Fahey, Michael, Garrett, C, Gillerot, Yves, Gillessen-Kaesbach, G., Giménez-Arnau, A, Guzzetta, F, Battaglia, D, Heimdal, K, Lissens, Willy, Taub, E, Van Maldergem, Lionel, Van Paesschen, W, Wieczorek, Dagmar, Wood, Nicholas W, Boon, Laurence M., Vikkula, Miikka   +22 more
openaire   +12 more sources

Status epilepsy in CCM with KRIT1 gene change

European Journal of Paediatric Neurology, 2014
Emily V. Craft, Pradeep C. Vasudevan
openaire   +2 more sources

Multiple cerebral cavernomata - KRIT1 mutation

2022
openaire   +1 more source

Cutaneous venous malformation due to krit1 mutation: a case report

2012
Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations (CCM) can occur sporadically or as an autosomal dominant condition, with incomplete penetrance and variable clinical expression.
LULLI, Patrizia, GRIPPAUDO, Francesca Romana, PIANE, Maria, L. Alesi, I. De Santis, M. Amoroso, S. Penco, SANTANELLI DI POMPEO, Fabio, CHESSA, Luciana   +8 more
openaire   +1 more source

Review for "KRIT1‐mediated regulation of neutrophil adhesion and motility"

2022
openaire   +1 more source

Familial cerebral cavernous malformations in a child with KRIT1 gene

QJM: An International Journal of Medicine
Singanamalla, Bhanudeep, Bramhini Bhargavi, Koneti   +1 more
openaire   +2 more sources

KRIT1: una nuova proteina sulle vie di segnalazione delle integrine

2003
AVOLIO, Maria, FRANCALANCI, FLORIANA, PROCIDA, Simone, BALZAC, Fiorella, DEGANI, Simona, TARONE, Guido, RETTA, Saverio Francesco   +6 more
openaire   +5 more sources

Krit1: a nucleocytoplasmic shuttling protein associated with Cerebral Cavernous Malformations

2005
AVOLIO, Maria, FRANCALANCI, FLORIANA, DEGANI, Simona, MARINO, Marco, DE LUCA, Elisa, FRAIOLI F, BALZAC, Fiorella, RETTA, Saverio Francesco   +7 more
openaire   +1 more source