Results 41 to 50 of about 1,834 (180)

VEGF signalling enhances lesion burden in KRIT1 deficient mice [PDF]

Journal of Cellular and Molecular Medicine, 2019
AbstractThe exact molecular mechanisms underlying CCM pathogenesis remain a complicated and controversial topic. Our previous work illustrated an important VEGF signalling loop in KRIT1 depleted endothelial cells. As VEGF is a major mediator of many vascular pathologies, we asked whether the increased VEGF signalling downstream of KRIT1 depletion was ...
Peter V. DiStefano, Angela J. Glading
openaire   +2 more sources

Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations

Frontiers in Neuroscience, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly occur in the brain. CCMs can be sporadic or hereditary in an autosomal dominant manner. The genes harboring variants of familial CCMs (FCCMs) include CCM1/KRIT1, CCM2/MGC4607,
Fan Zhang, Yiteng Xue, Feng Zhang, Xiaoming Wei, Zhisong Zhou, Zhaoru Ma, Xiaosong Wang, Hong Shen, Yujun Li, Xiaoying Cui, Li Liu   +10 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Cerebral Cavernous Malformation (CCM) Driven by Loss of Endothelial Krit1 is Exacerbated by Disruption of the Heart of Glass (Heg1) Receptor Pathway [PDF]

, 2021
Cerebral Cavernous Malformations (CCMs) are common vascular disruptions occurring mainly in the brain and spinal cord in which chronic hemorrhage leads to neurological deficits, headaches, seizures, and sometimes death.
Lin, Jenny
core   +1 more source

Pharmacological inhibition of the HEG1-KRIT1 protein complex upregulate KLF2 and KLF4 expression in endothelial cells [PDF]

, 2020
HEG1 (Heart of glass1), a transmembrane protein, directly binds to and recruits KRIT1 (Krev interaction trapped protein 1) to endothelial junctions to form the HEG1-KRIT1 protein complex that establishes and maintains junctional integrity.
Choi, Chelsea Hyun Ju
core   +1 more source

From Association to Mechanism: Regulatory Annotation and Pathway Mapping of Genes Surrounding Breast Cancer Risk Variants

Computational and Systems Oncology, Volume 6, Issue 1, December 2026.
ABSTRACT Inherited factors account for a large share of breast cancer susceptibility, yet the biological consequences of most risk variants are still poorly understood. To address this gap, we studied 175 breast cancer risk variants confirmed by genome‐wide association studies and gathered the genes that lie near them.
Sultana Jannat, Trina Mitra, Nafisa Nawar Fariha, Tasmia Tabassum, Kulsuma Bahar Bethi, Synchita Majumder Kaya, Md. Arif Hossen, Md. Saad Hossain, Jobaier Ibne Deen, Mohammed Emon, Laila Khaleda, Md. Hridoy Ahmed   +11 more
wiley   +1 more source

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation

Case Reports in Neurology, 2016
Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista   +3 more
doaj   +1 more source

Phospholipase Cε Modulates Rap1 Activity and the Endothelial Barrier. [PDF]

PLoS ONE, 2016
The phosphoinositide-specific phospholipase C, PLCε, is a unique signaling protein with known roles in regulating cardiac myocyte growth, astrocyte inflammatory signaling, and tumor formation. PLCε is also expressed in endothelial cells, however its role
Peter V DiStefano, Alan V Smrcka, Angela J Glading   +2 more
doaj   +1 more source

YAP Fuels Cerebral Cavernous Malformations by Regulating KLF4 Transcriptional Activity and Protein Stability

MedComm, Volume 7, Issue 11, November 2026.
Cerebral cavernous malformation (CCM) gene complex deficiency dual‐regulates YAP activity via a “dual‐pronged” mechanism: relieving LATS‐mediated inhibition to license YAP nuclear translocation, and promoting MAP3K3‐mediated YAP phosphorylation to stabilize YAP–KLF4 association.
Tingting Ye, Qi Zheng, Zonghao Hu, Haonan Fan, Zhongxing Sun, Xiya Li, Haomin Mo, Chengdong Chang, Yanhua Xu, Kai Wang, Dong Fang, Hai Song   +11 more
wiley   +1 more source

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Frontiers in Neurology, 2018
Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the
Concetta Scimone, Concetta Scimone, Luigi Donato, Luigi Donato, Luigi Donato, Zoe Katsarou, Sevasti Bostantjopoulou, Rosalia D'Angelo, Antonina Sidoti, Antonina Sidoti   +9 more
doaj   +1 more source