Results 21 to 30 of about 3,837 (194)

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy. [PDF]

Brain Behav
CCM1, CCM2, CCM3, MAP3K3, and PIK3CA genes mediate CCM pathogenesis by regulating the RhoA–ROCK, MAP3K3–KLF2/4, and PIK3CA–AKT–mTOR pathways, affecting processes such as cell migration, intercellular junctions, cell proliferation, inflammation, autophagy, EndMT, angiogenesis, and oxidative stress.
Zhang Z, Deng J, Sun W, Wang Z.
europepmc   +2 more sources

CCM2 Expression Parallels That of CCM1 [PDF]

Stroke, 2006
Background and Purpose— Mutations in CCM2 (MGC4607 or malcavernin) cause familial cerebral cavernous malformation (CCM), an autosomal dominant neurovascular disease. Both the function of this molecule and the pathogenesis of the disease remain elusive.
Askin, Seker, Katie L, Pricola, Bulent, Guclu, Ali K, Ozturk, Angeliki, Louvi, Murat, Gunel   +5 more
openaire   +2 more sources

Abortive intussusceptive angiogenesis causes multi-cavernous vascular malformations

eLife, 2021
Mosaic inactivation of CCM2 in humans causes cerebral cavernous malformations (CCMs) containing adjacent dilated blood-filled multi-cavernous lesions. We used CRISPR-Cas9 mutagenesis to induce mosaic inactivation of zebrafish ccm2 resulting in a novel ...
Wenqing Li, Virginia Tran, Iftach Shaked, Belinda Xue, Thomas Moore, Rhonda Lightle, David Kleinfeld, Issam A Awad, Mark H Ginsberg   +8 more
doaj   +1 more source

Differential angiogenesis function of CCM2 and CCM3 in cerebral cavernous malformations [PDF]

Neurosurgical Focus, 2010
Object Loss-of-function mutations in CCM genes are frequently detected in familial cerebral cavernous malformations (CCMs). However, the current functional studies of the CCM genes in vitro have been ...
Zhu, Yuan, Sure, Ulrich, Zhang, Jian-Min, Sandalcioglu, Ibrahim Erol, Miller, Dorothea, Wu, Qun, Xu, Jin-Fang   +6 more
openaire   +3 more sources

Use of Single-Cell Data and scPagwas Analysis to Identify T Cell Subsets and Construct a Prognostic Model for Clear Cell Renal Cell Carcinoma. [PDF]

Hum Mutat
Background Clear cell renal cell carcinoma (KIRC), the most prevalent pathological renal cell carcinoma (RCC) subtype, makes up approximately 75%–84% of total cases. KIRC is characterized by high heterogeneity, high metastasis rates, and a poor prognosis. Its incidence rate has continued to rise in recent years.
Yi X, Jia Z, Wu J, Wang S, Yu Y, Kong Y, He X, Huang Y.   +7 more
europepmc   +2 more sources

Using mounting, orientation, and design to improve bat box thermodynamics in a northern temperate environment

Scientific Reports, 2021
Wildlife managers design artificial structures, such as bird houses and bat boxes, to provide alternative nesting and roosting sites that aid wildlife conservation. However, artificial structures for wildlife may not be equally efficient at all sites due
Amélie Fontaine, Anouk Simard, Bryan Dubois, Julien Dutel, Kyle H. Elliott   +4 more
doaj   +1 more source

Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations [PDF]

The American Journal of Human Genetics, 2007
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including hemorrhagic stroke and seizures. Mutations in the gene KRIT1 are responsible for CCM1, mutations in the gene MGC4607 are responsible for CCM2, and mutations in the gene PDCD10 are responsible for CCM3. DNA
Liquori, Christina L., Berg, Michel J., Squitieri, Ferdinando, Leedom, Tracey P., Ptacek, Louis, Johnson, Eric W., Marchuk, Douglas A.   +6 more
openaire   +2 more sources

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources

Cerebral vascular malformations: pathogenesis and therapy. [PDF]

MedComm (2020)
CVMs management based on imaging genomics and liquid biopsy. In the future, somatic or de novo germline mutation information could be used to direct neurosurgical and medical management of CVMs. Somatic or germline variants can be acquired from imaging genomics or liquid biopsies preoperatively.
He Q, Huo R, Sun Y, Zheng Z, Xu H, Zhao S, Ni Y, Yu Q, Jiao Y, Zhang W, Zhao J, Cao Y.   +11 more
europepmc   +2 more sources

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]

, 2018
OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K., Gooch, MD, Michael R., Khanna, Omaditya   +2 more
core   +2 more sources