Results 101 to 110 of about 1,858 (192)

Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G > A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population

, 2017
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with ...
Wu, Bingquan, Zhong, Haohao, Xu, Yulun, Zhao, Jizong, Yang, Chenlong, Li, Yan   +5 more
core   +1 more source

Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations

EMBO Molecular Medicine
Cerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3/PDCD10 trigger a MAPK-Krüppel-like factor 2 (KLF2) signaling cascade, which induces a pathophysiological pattern of gene
Van-Cuong Pham, Claudia Jasmin Rödel, Mariaelena Valentino, Matteo Malinverno, Alessio Paolini, Juliane Münch, Candice Pasquier, Favour C Onyeogaziri, Bojana Lazovic, Romuald Girard, Janne Koskimäki, Melina Hußmann, Benjamin Keith, Daniel Jachimowicz, Franziska Kohl, Astrid Hagelkruys, Josef M Penninger, Stefan Schulte-Merker, Issam A Awad, Ryan Hicks, Peetra U Magnusson, Eva Faurobert, Massimiliano Pagani, Salim Abdelilah-Seyfried   +23 more
doaj   +1 more source

IDENTIFICATION DU GENE CCM1 IMPLIQUE DANS LES CAVERNOMATOSES CEREBRALES FAMILIALES

, 2001
LES CAVERNOMES CEREBRAUX SONT DES MALFORMATIONS VASCULAIRES DU SYSTEME NERVEUX CENTRAL. LEUR PREVALENCE EST ESTIMEE A 0.1% ; ENVIRON 20% DES CAS CORRESPONDENT A UNE MALADIE HEREDITAIRE A TRANSMISSION AUTOSOMIQUE DOMINANTE.
TOURNIER LASSERVE, ELISABETH, LABERGE LE COUTEULX, SOPHIE   +1 more
core  

Supplementary Material for: Association of Cardiovascular Risk Factors with Disease Severity in Cerebral Cavernous Malformation Type 1 Subjects with the Common Hispanic Mutation

, 2017
Background: Cerebral cavernous malformations (CCM) are enlarged vascular lesions affecting 0.1-0.5% of the population worldwide and causing hemorrhagic strokes, seizures, and neurological deficits.
Choquet H. (4143130), Baca B. (4143124), Nelson J. (4143127), Khan Y. (4143136), Akers A. (4143139), Hart B. (4143142), McCulloch C.E. (4119190), Pawlikowska L. (4119181), Kim H. (3126153), Morrison L. (4143133)   +9 more
core   +1 more source

Regulation and Function of Cerebral Cavernous Malformation Proteins

, 2012
Cerebral Cavernous Malformations (CCM) is a genetic disease that causes dilated, leaky blood vessels in the brain and manifests with neurological deficits, seizures and hemorrhagic stroke.
Borikova, Asya Lazarova
core   +2 more sources

Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1

, 2016
Background Familial Cerebral Cavernous Malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions.
Hart B. L., Trabalzini L., Kim H., Morrison L. A., Trapani E., Choquet H., Akers A., Pawlikowska L., Fontanella M., Goitre L., Retta S. F.   +10 more
core   +1 more source

Cerebral cavernous malformation is a vascular disease associated with activated RhoA signaling

, 2013
Cerebral cavernous malformation (CCM) involves the homozygous inactivating mutations of one of three genes, ccm1, -2, or -3 resulting in hyperpermeable blood vessels in the brain.
Borikova, Asya L., Johnson, Gary L., Dibblel, Christopher F., Richardson, Bryan T.   +3 more
core   +2 more sources

Differenzierung von humanen induzierten pluripotenten Stammzellen in Endothelzellen nach CRISPR/Cas9-vermittelter Inaktivierung von CCM1, CCM2 und CCM3 [PDF]

Zerebrale kavernöse Malformationen (CCMs) sind Läsionen im venös-kapillären Gefäßbett des zentralen Nervensystems, welche zu epileptischen Anfällen und schlaganfallähnlichen Symptomen führen können.
Mellinger, Lara
core  

Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations

, 2013
Cerebral cavernous malformations (CCM) are congenital vascular anomalies predominantly of the central nervous system but may include lesions in other tissues such as the retina, skin, and liver.
Friedman, B., Shahbazi, M., Haghighi, A., Motahari, M.-M., Fathi, D.   +4 more
core  

A nuclear CobW/WW-domain factor represses the CO₂-concentrating mechanism in the green alga <i>Chlamydomonas reinhardtii</i>. [PDF]

Proc Natl Acad Sci U S A
Shimamura D, Yasuda J, Yamahara Y, Nakano H, Ozawa SI, Tokutsu R, Yamagami A, Matsushita T, Takahashi Y, Nakano T, Fukuzawa H, Yamano T.   +11 more
europepmc   +1 more source