Results 71 to 80 of about 1,916 (204)

Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice. [PDF]

, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions predominantly developing in the central nervous system (CNS), with no effective treatments other than surgery.
Chen J, Choi J, Cogger VC, Coleman P, Gamble JR, Li J, Moller T, Shi Z, Ting KK, Vadas MA, Wan L, Zhao Y, Zheng X   +12 more
core   +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

Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien [PDF]

, 2018
Zusammenfassung: 1928 beschrieb Hugo Friedrich Kufs erstmalig eine Familie mit zerebralen, retinalen und kutanen Kavernomen. Mittlerweile wurden über 300 weitere Familien beschrieben.
Andermann, E., Andermann, F., Baumann, C., Bertalanffy, H., Dichgans, J., Elger, C., Hopf, H., Hopf, N., Keidel, M., Kleider, A., Nowak, G., Pfeiffer, R., Rouleau, G., Schramm, J., Siegel, A., Spuck, S., Stefan, H., Sure, U., Verlaan, D.   +18 more
core  

Loss of cerebral cavernous malformation 3 ( Ccm3 ) in neuroglia leads to CCM and vascular pathology [PDF]

Proceedings of the National Academy of Sciences, 2011
Communication between neural cells and the vasculature is integral to the proper development and later function of the central nervous system. A mechanistic understanding of the interactions between components of the neurovascular unit has implications for various disorders, including cerebral cavernous malformations (CCMs) in ...
Angeliki, Louvi, Leiling, Chen, Aimee M, Two, Haifeng, Zhang, Wang, Min, Murat, Günel   +5 more
openaire   +2 more sources

Serine phosphorylation of the small phosphoprotein ICAP1 inhibits its nuclear accumulation [PDF]

, 2021
Cerebral cavernous malformations (CCMs) are neurovascular abnormalities characterized by thin, leaky blood vessels resulting in lesions that predispose to hemorrhages, stroke, epilepsy, and focal neurological deficits.
Su, Valerie L
core   +1 more source

Multi‐Region Brain Organoids Integrating Cerebral, Mid‐Hindbrain, and Endothelial Systems

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Multi‐Region Brain Organoids combine cerebral, mid/hindbrain, and endothelial components into an advanced 3D model capturing 80% of fetal brain cellular diversity. This platform reveals essential endothelial‐neural signaling networks that maintain region‐specific intermediate progenitors during hindbrain development.
Anannya Kshirsagar, Hayk Mnatsakanyan, Sai Kulkarni, John Guo, Kai Cheng, Luke Daniel Ofria, Oce Bohra, Ram Sagar, Vasiliki Mahairaki, Christian E Badr, Annie Kathuria   +10 more
wiley   +1 more source

A feasibility study for quantitative assessment of cerebrovascular malformations using flutriciclamide ([18F]GE-180) PET/MRI

Frontiers in Medicine, 2023
AimNeuroinflammation plays a key role in both the pathogenesis and the progression of cerebral cavernous malformations (CCM). Flutriciclamide ([18F]GE-180) is a translocator protein (TSPO) targeting positron emission tomography (PET) tracer, developed ...
Sally Ji Who Kim, Sally Ji Who Kim, Janine M. Lupo, Yicheng Chen, Miguel H. Pampaloni, Henry F. VanBrocklin, Jared Narvid, Helen Kim, Youngho Seo   +8 more
doaj   +1 more source

Release of STK24/25 suppression on MEKK3 signaling in endothelial cells confers cerebral cavernous malformation

JCI Insight, 2023
Loss-of-function mutations in cerebral cavernous malformation (CCM) genes and gain-of-function mutation in the MAP3K3 gene encoding MEKK3 cause CCM. Deficiency of CCM proteins leads to the activation of MEKK3-KLF2/4 signaling, but it is not clear how ...
Xi Yang, Shi-Ting Wu, Rui Gao, Rui Wang, Yixuan Wang, Zhenkun Dong, Lu Wang, Chunxiao Qi, Xiaohong Wang, M. Lienhard Schmitz, Renjing Liu, Zhiming Han, Lu Wang, Xiangjian Zheng   +13 more
doaj   +1 more source

Programmed Cell Death Protein 10 (PDCD10) Regulates Vesicle Trafficking and Contributes to the Progression of Clear Cell Renal Cell Carcinoma

Journal of Extracellular Vesicles, Volume 14, Issue 6, June 2025.
ABSTRACT Vesicle trafficking is an essential cellular process that plays an important role in tumour progression. Here, we performed a comprehensive transcriptomic and proteomic analysis on 50 clear cell renal cell carcinoma (ccRCC) tumour samples, and the data systematically depicted the alterations in the molecular landscape.
Rui Wang, Tianyu Lin, Yi Liu, Hao Wang, Xinyu Liu, Yihan Dong, Jiaxin Li, Huamao Jiang, Ruibing Chen, Yong Wang, Dan Yue   +10 more
wiley   +1 more source

Compound Heterozygous Loss‐of‐Function Variants in CCM2L in a Fetus With Tetralogy of Fallot

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A potential association of CCM2L loss‐of ‐function variants with developmental anomalies of the heart. ABSTRACT Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Dandan Ling, Wanqin Xie, Xiao Mao, Zhiyu Liu, Yabing Tang, Fanjuan Kong   +5 more
wiley   +1 more source