Results 61 to 70 of about 1,834 (180)

Magnetic Resonance Imaging of KRIT1 Associated Familial Cerebral Cavernous Malformations at 7‐Tesla

Neurology and Clinical Neuroscience, EarlyView.
Sam J. Neilson, Natasha E. Fullerton, David Porter, Keith W. Muir   +3 more
wiley   +1 more source

Silencing <i>KRIT1</i> Partially Reverses the Effects of Disturbed Flow on the Endothelial Cell Transcriptome. [PDF]

Int J Mol Sci
Endothelial cells respond to forces generated by laminar blood flow with changes in vasodilation, anticoagulant, fibrinolytic, or anti-inflammatory functions which preserve vessel patency.
Meecham A, McCurdy S, Frias-Anaya E, Li W, Gallego-Gutierrez H, Nguyen P, Li YS, Chien S, Shyy JY, Ginsberg MH, Lopez-Ramirez MA.   +10 more
europepmc   +2 more sources

Rapamycin Partially Reverts Cavernoma Endothelial Cell Phenotype and, When Combined With Lapatinib, Ameliorates Chronic Lesions

Journal of Cellular and Molecular Medicine, Volume 30, Issue 13, July 2026.
ABSTRACT This study investigates the impact of rapamycin and propranolol on cerebral cavernous malformations (CCMs). Employing an unbiased transcriptomic analysis, we aimed to comprehensively elucidate the molecular mechanisms underlying these drug effects.
Mar García‐Colomer, José E. Martínez, Luis Díaz‐Gómez, Miriam Sartages, Eva M. Esquinas‐Román, Cristina Riobello, David Martínez‐Delgado, Diego González‐Pérez, Aurora Gómez‐Durán, Miguel Fidalgo, Marta Varela‐Rey, Celia M. Pombo, Juan Zalvide   +12 more
wiley   +1 more source

Risk of Clinical Events in Presymptomatic Familial Cerebral Cavernous Malformations

European Journal of Neurology, Volume 33, Issue 6, June 2026.
ABSTRACT Background and Purpose Familial cerebral cavernous malformations (fCCM) may cause focal neurological deficits (FND) due to hemorrhagic or non‐hemorrhagic events and epileptic seizures (ES). With the widespread use of magnetic resonance imaging (MRI) and genetic testing, diagnosis is now frequently established at a presymptomatic stage, before ...
Constantina Rodica Popa, Dominique Hervé, Nassira Alili, Estelle Dubus, Abbas Taleb, Fanny Fernandes, Florence Riant, Elisabeth Tournier Lasserve, Louis Lambert, Hugues Chabriat, Stéphanie Guey   +10 more
wiley   +1 more source

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

Frontiers in Neurology, 2020
Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj   +1 more source

Computational and experimental screening identifies 6-chloro-2-hydroxy-1-naphthaldehyde derivatives as disruptors of the HEG1–KRIT1 protein–protein interaction

Scientific Reports
The HEG1–KRIT1 protein–protein interaction is a central regulatory interface in cerebral cavernous malformation signaling and represents a potential target for small-molecule modulation.
Emadeldin M. Kamel, May Bin-Jumah, Haifa E. Alfassam, Raghad A. Alotaibi, Badriah Saleh Alammari, Fahad M. Alshabrmi, Faris F. Aba Alkhayl, Al Mokhtar Lamsabhi   +7 more
doaj   +1 more source

Multiple cerebral cavernous haemangiomas in an infant

Journal of Pediatric Neurosciences, 2012
Cerebral cavernous malformations (CCMs) are vascular malformations causing seizures and cerebral hemorrhages. We report a 20-month old male with multiple CCMs associated with Krev interaction trapped 1 (KRIT1) c.845 + 1 G > C heterozygous transversion ...
Poonam Verma, Rashid Saleem, Pooja Harijan, Nahin Hussain   +3 more
doaj   +1 more source

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

Epigenetics in B‐CLL

International Journal of Genomics, Volume 2026, Issue 1, 2026.
B‐cell chronic lymphocytic leukemia (B‐CLL) is the most common hematological malignancy in adults. Its clinical course is heterogeneous, ranging from indolent forms with slow progression to aggressive variants refractory to conventional treatment.
Alexandra Chu, Flavia Soto, Rodrigo Hurtado, Carlos A. Tirado, Priyanka Sharma   +4 more
wiley   +1 more source

KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation

Human Genome Variation, 2016
Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations.
Hirota, Kengo, Akagawa, Hiroyuki, Kikuchi, Asami, Oka, Hideki, Hino, Akihiko, Mitsuyama, Tetsuryu, Sasaki, Toshiyuki, Onda, Hideaki, Kawamata, Takakazu, Kasuya, Hidetoshi   +9 more
openaire   +2 more sources