Results 71 to 80 of about 4,624 (210)

Generation of an integration-free induced pluripotent stem cell line (UNC001-A) from blood of a healthy individual

Stem Cell Research, 2020
Induced pluripotent stem cells (iPSCs) generated from young, healthy individuals are valuable tools for investigating molecular disease mechanisms during the early development of the brain vasculature.
Sarahi G. Molina, Alvaro A. Beltran, Adriana S. Beltran   +2 more
doaj   +1 more source

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. [PDF]

, 2018
BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain.
Al-Olabi, L, Andrews, KA, Baird, W, Barnacle, A, Biesecker, LG, Bulstrode, N, Clark, G, Dowsett, K, Glover, M, Gordon, K, Hargrave, D, Huson, SM, Jacques, TS, James, G, Joseph, AP, Kangesu, L, Keppler-Noreuil, KM, Khan, A, Kinsler, VA, Knox, R, Kondolf, H, Lindhurst, MJ, Lipson, M, Mahon, C, Mansour, S, Mosica, A, Moss, C, Murthy, A, O'Hara, J, Ong, J, Parker, VE, Patton, EE, Pittman, A, Polubothu, S, Rivière, J-B, Sapp, JC, Sebire, NJ, Semple, RK, Shah, R, Sivakumar, B, Stadnik, P, Thomas, A, Topf, M, Virasami, A, Waelchli, R, Zeng, Z   +45 more
core   +4 more sources

Neuroinflammation Plays a Critical Role in Cerebral Cavernous Malformation Disease [PDF]

, 2022
BackgroundCerebral cavernous malformations (CCMs) are neurovascular lesions caused by loss of function mutations in 1 of 3 genes, including KRIT1 (CCM1), CCM2, and PDCD10 (CCM3). CCMs affect ≈1 out of 200 children and adults, and no pharmacologic therapy
Frias-Anaya, Eduardo, Gallego-Gutierrez, Helios, Gongol, Brendan, Herrera, Victoria, Lai, Catherine Chinhchu, Ley, Klaus, Lopez-Ramirez, Miguel Alejandro, Mesarwi, Omar A, Nelsen, Bliss, Orecchioni, Marco, Ortiz, Elan, Sun, Hao   +11 more
core   +1 more source

Target Volume Definition for Stereotactic Radiosurgery (SRS) Of Cerebral Cavernous Malformations (CCMS) [PDF]

Cancer Therapy & Oncology International Journal, 2020
Cerebral cavernous malformations (CCMs) are composed of abnormal hyalinized capillary clusters typically surrounded by deposits of hemosiderin. These vascular abnormalities of the brain may be asymptomatic, however, a plethora of symptoms may occur in some of the affected patients including seizures, hemorrhages, and neurological deficits. Stereotactic
openaire   +1 more source

Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients [PDF]

BioMed Research International, 2013
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes:CCM1(K-Rev ...
D'ANGELO, Rosalia, ALAFACI, Concetta, Scimone C, RUGGERI, ALESSIA, SALPIETRO, Francesco, BRAMANTI, Placido, TOMASELLO, Francesco, SIDOTI, Antonina   +7 more
openaire   +3 more sources

Impaired retinoic acid signaling in cerebral cavernous malformations

Scientific Reports, 2023
The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff, Gwenola Boulday, Claudia J. Rödel, Cécile Otten, Daphné Raphaelle Vannier, Cécile Cardoso, Eva Faurobert, Deepika Dogra, Elisabeth Tournier-Lasserve, Salim Abdelilah-Seyfried   +9 more
doaj   +1 more source

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis [PDF]

Human Molecular Genetics, 2008
Cerebral cavernous malformations (CCMs) are vascular anomalies of the central nervous system, comprising dilated blood-filled capillaries lacking structural support. The lesions are prone to rupture, resulting in seizures or hemorrhagic stroke. CCM can occur sporadically, manifesting as solitary lesions, but also in families, where multiple lesions ...
Amy L, Akers, Eric, Johnson, Gary K, Steinberg, Joseph M, Zabramski, Douglas A, Marchuk   +4 more
openaire   +2 more sources

Editome landscape of CCM-derived endothelial cells

RNA Biology, 2022
By regulating several phases of gene expression, RNA editing modifications contribute to maintaining physiological RNA expression levels. RNA editing dysregulation can affect RNA molecule half-life, coding/noncoding RNA interaction, alternative splicing,
Concetta Scimone, Simona Alibrandi, Luigi Donato, Concetta Alafaci, Antonino Germanò, Sergio L. Vinci, Rosalia D’Angelo, Antonina Sidoti   +7 more
doaj   +1 more source

Untreated cerebral cavernous malformations (CCM) – quality of life in one-year longitudinal follow up

, 2021
Objective: To estimate quality of life (QoL) during the natural course of patients with untreated cerebral cavernous malformations (CCM) using a one-year longitudinal follow up. Methods: 246 consecutive cases of CCM were included in a prospective longitudinal study assessing QoL and neurological/psychiatric[for full text, please go to the a.m. URL]
Herten, A, Saban, DV, Chen, B, Rauschenbach, L, Santos, AN, Rauscher, S, Jabbarli, R, Wrede, KH, Sure, U, Dammann, P   +9 more
openaire   +2 more sources

Systems biology and proteomic analysis of cerebral cavernous malformation [PDF]

, 2014
Cerebral cavernous malformations (CCM) are vascular anomalies caused by mutations in genes encoding KRIT1, OSM and PDCD10 proteins causing hemorrhagic stroke. We examine proteomic change of loss of CCM gene expression.
Bencharit, Sompop, Byrd, Warren, Carlson, Jim, Dibble, Christopher, Edelmann, Alexander, Saldarriaga, Ivandario, Schwartz-Baxter, Sarah   +6 more
core   +2 more sources