Results 61 to 70 of about 3,591 (208)

Deep-Learning Uncovers certain CCM Isoforms as Transcription Factors

Frontiers in Bioscience-Landmark
Background: Cerebral Cavernous Malformations (CCMs) are brain vascular abnormalities associated with an increased risk of hemorrhagic strokes. Familial CCMs result from autosomal dominant inheritance involving three genes: KRIT1 (CCM1), MGC4607 (CCM2 ...
Jacob Croft, Liyuan Gao, Victor Sheng, Jun Zhang   +3 more
doaj   +1 more source

Caveolae-mediated Tie2 signaling contributes to CCM pathogenesis in a brain endothelial cell-specific Pdcd10-deficient mouse model

Nature Communications, 2021
Cerebral cavernous malformations (CCMs) are vascular abnormalities that primarily occur in adulthood and cause cerebral hemorrhage, stroke, and seizures.
Huanjiao Jenny Zhou, Lingfeng Qin, Quan Jiang, Katie N. Murray, Haifeng Zhang, Busu Li, Qun Lin, Morven Graham, Xinran Liu, Jaime Grutzendler, Wang Min   +10 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

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

Antioxidants, 2022
Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta   +6 more
doaj   +1 more source

Pyrenoid loss impairs carbon-concentrating mechanism induction and alters primary metabolism in Chlamydomonas reinhardtii [PDF]

, 2017
Carbon-concentrating mechanisms (CCMs) enable efficient photosynthesis and growth in CO2-limiting environments, and in eukaryotic microalgae localisation of Rubisco to a microcompartment called the pyrenoid is key.
Madeline C Mitchell, Gergana Metodieva, Metodi V Metodiev, Howard Griffiths, Moritz T Meyer, Badger, Borkhsenious, Brueggeman, Caspari, Chen, Dionisio-Sese, Eriksson, Falda, Fang, Fukuzawa, Genkov, Giordano, Goodstein, Hochmal, Horton, Im, Jin, Karlsson, Karpievitch, Kelley, Kim, Krogh, Kropat, Lavigne, Lohse, Ma, Mackinder, McKew, Metodieva, Meyer, Mitchell, Miura, Morita, Moroney, Moroney, Raven, Reinfelder, Schloss, Schulze, Spalding, Spalding, Spalding, Spalding, Spalding, Spreitzer, Tardif, Tavío, Villarejo, Wang, Wang, Wang, Wang, Yamano, Yamano, Yamano, Zones   +60 more
core   +1 more source

The CCM1–CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity [PDF]

Journal of Cell Science, 2018
ABSTRACT Endothelial integrity relies on a mechanical crosstalk between intercellular and cell–matrix interactions. This crosstalk is compromised in hemorrhagic vascular lesions of patients carrying loss-of-function mutations in cerebral cavernous malformation (CCM) genes.
Lisowska, Justyna, Rödel, Claudia, Manet, Sandra, Miroshnikova, Yekaterina, Boyault, Cyril, Planus, Emmanuelle, de Mets, Richard, Lee, Hsiao-Hui, Destaing, Olivier, Mertani, Hichem, Boulday, Gweńola, Tournier-Lasserve, Elisabeth, Balland, Martial, Abdelilah-Seyfried, Salim, Albiges-Rizo, Corinne, Faurobert, Eva   +15 more
openaire   +4 more sources

Maltese study of intracranial vascular malformations [PDF]

, 2018
Intracranial vascular malformations (IVMs) are responsible for 49% of spontaneous intraparenchymal brain haemorrhage in patients under 40 years of age.
Chircop, Charmaine, Dalli, Theresia, Mallia, Maria   +2 more
core   +1 more source

Label free super resolution imaging with photonic nanojets from tunable tapered optical fibers

Nanophotonics, Volume 14, Issue 22, Page 3669-3680, 01 November 2025.
Abstract We demonstrate a label‐free, far‐field super‐resolution imaging approach based on photonic nanojets generated by tapered dielectric fibers. By systematically analyzing the dependence of nanojet confinement and focal distance on cylinder diameter (8–16 μm), we establish a geometric design framework for tunable light localization below the ...
Maya Hen Shor Peled, Göran Maconi, Ivan Kassamakov, Alina Karabchevsky   +3 more
wiley   +1 more source

Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis

Frontiers in Surgery, 2016
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski, M. Yashar S. Kalani, Joseph M. Zabramski   +2 more
doaj   +1 more source

An X‐ray beamline for utilizing intense, high‐energy undulator radiation

Journal of Synchrotron Radiation, Volume 32, Issue 5, Page 1201-1210, September 2025.
The design, development and performance of an X‐ray beamline for utilizing intense, high‐energy undulator radiation are presented.The design, development and performance of an X‐ray beamline for utilizing intense, high‐energy undulator radiation are presented.
Hirokatsu Yumoto, Takahisa Koyama, Hiroshi Yamazaki, Yasunori Senba, Yujiro Hayashi, Taito Osaka, Ichiro Inoue, Kenji Tamasaku, Shunji Goto, Makina Yabashi, Haruhiko Ohashi   +10 more
wiley   +1 more source