Results 131 to 140 of about 1,864 (178)

Developmental venous anomaly related to de novo cerebral cavernous malformation: Imaging findings from two cases. [PDF]

Radiol Case Rep
Tovar SG, Parra AF.
europepmc   +1 more source

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

JAMA Netw Open
Carli D, Quarello P, Porta F, Cagnazzo C, Zucchetti G, Proto CF, Gianasso R, Biamino E, Carbonara C, Coscia A, Parlato C, Fenoglio B, Guarrera S, Spada M, Mussa A, Minucci S, Fagioli F.   +16 more
europepmc   +1 more source

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China. [PDF]

Stroke Vasc Neurol
Li C, Zhuo L, Kang Y, Liu P, Huang W, Li Q, Ma K, Huang S, Lin X, Zhuang W, Wang H, Chen D, Wang H, He Q, Gao Z, Niu X, Jing Y, Yan L, Gao B, Wang D, Lin S, Wu S, Lin Y, Kang D, Lin F.   +24 more
europepmc   +1 more source

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Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants

Journal of Molecular Neuroscience, 2021
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system which may occur sporadically or segregate within families due to heterozygous variants in KRIT1/CCM1, MGC4607/CCM2 or PDCD10/CCM3.
C. Fusco, G. Nardella, A. Petracca, D. Ronchi, N. Paciello, M. D. Di Giacomo, S. Gambardella, S. Lanfranconi, S. Zampatti, L. D'agruma, L. Micale, M. Castori   +11 more
semanticscholar   +9 more sources

Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations

Journal of Stroke and Cerebrovascular Diseases
BACKGROUND Cerebral Cavernous Malformations (CCM) is a genetic disease characterized by vascular abnormalities in the brain and spinal cord, affecting 0.4-0.5% of the population.
Gustavo Da Fontoura Galvão, Andreza Lemos Sálvio, FABRÍCIA Lima Fontes-Dantas   +2 more
exaly   +2 more sources

KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation

Pediatric Dermatology, 2021
Cerebral 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
Bayan Matarneh, C. Cottrell, Samantha Choi, G. Pearson, Bonita Fung, Selene C. Koo, A. Lillis, Mai‐Lan Ho, E. Fernández Faith   +8 more
semanticscholar   +3 more sources

KRIT1 nuclear localization does not impair KRIT1-dependent regulation of endothelial barrier permeability and cell homeostasis.

The FEBS Journal
KRIT1 plays a key role in regulating the barrier function of endothelial cells, where it localizes to the adherens junctions, cytoplasm, and nucleus. However, how subcellular localization may regulate KRIT1 remains unclear.
A. Perrelli, A. Glading
semanticscholar   +2 more sources

Production of KRIT1-knockout and KRIT1-knockin Mouse Embryonic Fibroblasts as Cellular Models of CCM Disease.

Methods in molecular biology, 2020
The development of distinct cellular and animal models has allowed the identification and characterization of molecular mechanisms underlying the pathogenesis of cerebral cavernous malformation (CCM) disease. This is a major cerebrovascular disorder of proven genetic origin, affecting 0.5% of the population.
L. Goitre, Claudia Fornelli, A. Zotta, A. Perrelli, S. Retta   +4 more
semanticscholar   +3 more sources

miR-21 coordinates tumor growth and modulates KRIT1 levels

Biochemical and Biophysical Research Communications, 2013
miR-21 is overexpressed in tumors and it displays oncogenic activity. Here, we show that expression of miR-21 in primary tumors anticorrelates with KRIT1/CCM1, an interacting partner of the Ras-like GTPase Rap1, involved in Cerebral Cavernous Malformations (CCM).
Francesca Orso, Antonio Lembo, Saverio Francesco Retta   +2 more
exaly   +5 more sources