A murine model of cerebral cavernous malformations with acute hemorrhage

Article Multidisciplinary Sciences

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

Huanjiao Jenny Zhou et al.

Summary: The study reveals that mice with brain EC-specific deletion of Pdcd10 develop genuine CCM lesions, allowing visualization of vascular dynamics, and uncovers the mechanisms of CCM initiation and formation.

NATURE COMMUNICATIONS (2021)

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Article Medicine, Research & Experimental

Propranolol inhibits cavernous vascular malformations by β1 adrenergic receptor antagonism in animal models

Wenqing Li et al.

Summary: Propranolol, a pleiotropic beta-adrenergic blocker, has shown promising results in reducing cerebral cavernous malformations in animal models such as zebrafish and mice, possibly due to its beta 1 adrenergic antagonism. These findings suggest that propranolol or other beta 1-selective antagonists may be beneficial in treating CCM disease.

JOURNAL OF CLINICAL INVESTIGATION (2021)

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Article Clinical Neurology

Propranolol Reduces the Development of Lesions and Rescues Barrier Function in Cerebral Cavernous Malformations A Preclinical Study

Joppe Oldenburg et al.

Summary: This study demonstrated that propranolol can reduce and stabilize vascular lesions in a CCM3(iECKO) murine model, leading to decreased lesion quantity, size, and volume in the brain and retina. Furthermore, novel characteristics of CCM3(iECKO) lesions were discovered using electron microscopy, and pericyte coverage increased with propranolol treatment, while vascular leakage was reduced. These findings support propranolol as a potential pharmaceutical treatment for CCM.

STROKE (2021)

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Article Multidisciplinary Sciences

PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism

Aileen A. Ren et al.

Summary: Vascular malformations are caused by increased signaling through the PI3K-mTOR pathway and loss of function of the CCM complex, which are found in the majority of human CCMs. Using mouse models, researchers discovered that the formation of CCMs can be effectively blocked by the mTORC1 inhibitor rapamycin.

NATURE (2021)

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Review Clinical Neurology

Neurological outcomes of untreated brainstem cavernous malformations in a prospective observational cohort and literature review

Da Li et al.

Summary: The study evaluated the neurological outcomes of untreated brainstem cavernous malformations (CMs) and found that the majority of patients experienced improved or stable conditions during follow-up. Radiological features were significantly predictive of worsened outcomes.

STROKE AND VASCULAR NEUROLOGY (2021)

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Review Biochemistry & Molecular Biology

The multifaceted PDCD10/CCM3 gene

Mariaelena Valentino et al.

Summary: The PDCD10/CCM3 protein plays diverse roles in cellular functions such as cell-to-cell junctions, cytoskeleton organization, proliferation, apoptosis, exocytosis, and angiogenesis. Dysregulation of PDCD10/CCM3 can lead to various diseases including CCM, cognitive disability, and cancers. Its functions extend beyond CCM, influencing multiple aspects of cellular physiology and pathology.

GENES & DISEASES (2021)

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Article Medicine, Research & Experimental

Astrocytes propel neurovascular dysfunction during cerebral cavernous malformation lesion formation

Miguel Alejandro Lopez-Ramirez et al.

Summary: Proliferative astrocytes play a critical role in the pathogenesis of CCM by being a major source of VEGF; non-cell-autonomous crosstalk between CCM endothelium and astrocytes propels vascular lesion development; components of the hypoxic program represent potential therapeutic targets for CCMs.

JOURNAL OF CLINICAL INVESTIGATION (2021)

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Article Clinical Neurology

Novel Chronic Mouse Model of Cerebral Cavernous Malformations

Cecile Cardoso et al.

STROKE (2020)

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Article Clinical Neurology

High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort

M. C. Mabray et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2020)

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Article Medicine, Research & Experimental

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial

Silvia Lanfranconi et al.

TRIALS (2020)

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Article Peripheral Vascular Disease

Novel Murine Models of Cerebral Cavernous Malformations

Matthew R. Detter et al.

ANGIOGENESIS (2020)

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Article Biology

Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution

Fabrizio Orsenigo et al.

ELIFE (2020)

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Review Immunology

Cell circuits and niches controlling B cell development

Sandra Zehentmeier et al.

IMMUNOLOGICAL REVIEWS (2019)

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Article Multidisciplinary Sciences

Endothelial cell clonal expansion in the development of cerebral cavernous malformations

Matteo Malinyerno et al.

NATURE COMMUNICATIONS (2019)

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Article Cell Biology

Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation

Alan T. Tang et al.

SCIENCE TRANSLATIONAL MEDICINE (2019)

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Article Hematology

Cerebral cavernous malformations form an anticoagulant vascular domain in humans and mice

Miguel Alejandro Lopez-Ramirez et al.

BLOOD (2019)

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Article Clinical Neurology

Plasma Biomarkers of Inflammation Reflect Seizures and Hemorrhagic Activity of Cerebral Cavernous Malformations

Romuald Girard et al.

TRANSLATIONAL STROKE RESEARCH (2018)

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Article Cardiac & Cardiovascular Systems

Plasma Biomarkers of Inflammation and Angiogenesis Predict Cerebral Cavernous Malformation Symptomatic Hemorrhage or Lesional Growth

Romuald Girard et al.

CIRCULATION RESEARCH (2018)

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Article Cardiac & Cardiovascular Systems

Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells

Matthew R. Detter et al.

CIRCULATION RESEARCH (2018)

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Review Genetics & Heredity

Review of familial cerebral cavernous malformations and report of seven additional families

Ivo J. H. M. de Vos et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

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Article Immunology

Thrombospondin1 (TSP1) replacement prevents cerebral cavernous malformations

Miguel Alejandro Lopez-Ramirez et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2017)

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Article Multidisciplinary Sciences

Endothelial TLR4 and the microbiome drive cerebral cavernous malformations

Alan T. Tang et al.

NATURE (2017)

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Review Hematology

Endothelial cell disease: emerging knowledge from cerebral cavernous malformations

Maria Grazia Lampugnani et al.

CURRENT OPINION IN HEMATOLOGY (2017)

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Article Medicine, Research & Experimental

KLF4 is a key determinant in the development and progression of cerebral cavernous malformations

Roberto Cuttano et al.

EMBO MOLECULAR MEDICINE (2016)

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Article Neurosciences

B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models

Changbin Shi et al.

JOURNAL OF NEUROIMMUNE PHARMACOLOGY (2016)

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Article Multidisciplinary Sciences

Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling

Zinan Zhou et al.

NATURE (2016)

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Article Biochemistry & Molecular Biology

Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation

Huanjiao Jenny Zhou et al.

NATURE MEDICINE (2016)

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Article Medicine, General & Internal

A Randomized, Controlled Trial of Oral Propranolol in Infantile Hemangioma

C. Leaute-Labreze et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

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Article Multidisciplinary Sciences

Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice

Luca Bravi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

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Article Clinical Neurology

Polymorphisms in Inflammatory and Immune Response Genes Associated with Cerebral Cavernous Malformation Type 1 Severity

Helene Choquet et al.

CEREBROVASCULAR DISEASES (2014)

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Article Clinical Neurology

Surgical outcomes and natural history of intramedullary spinal cord cavernous malformations: a single-center series and meta-analysis of individual patient data

Jetan H. Badhiwala et al.

JOURNAL OF NEUROSURGERY-SPINE (2014)

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Article Multidisciplinary Sciences

EndMT contributes to the onset and progression of cerebral cavernous malformations

Luigi Maddaluno et al.

NATURE (2013)

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Article Clinical Neurology

Natural history and imaging prevalence of cavernous malformations in children and young adults Clinical article

Wajd N. Al-Holou et al.

JOURNAL OF NEUROSURGERY-PEDIATRICS (2012)

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Article Biochemical Research Methods

Fiji: an open-source platform for biological-image analysis

Johannes Schindelin et al.

NATURE METHODS (2012)

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Article Immunology

Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice

Gwenola Boulday et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2011)

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Review Clinical Neurology

Management of incidental cavernous malformations: a review

Richard T. Dalyai et al.

NEUROSURGICAL FOCUS (2011)

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Article Biochemistry & Molecular Biology

Cerebral Cavernous Malformation 2 Protein Promotes Smad Ubiquitin Regulatory Factor 1-mediated RhoA Degradation in Endothelial Cells

Lisa E. S. Crose et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

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Article Biochemistry & Molecular Biology

The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

Kevin J. Whitehead et al.

NATURE MEDICINE (2009)

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Article Clinical Neurology

Immune Response in Human Cerebral Cavernous Malformations

Changbin Shi et al.

STROKE (2009)

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Article Clinical Neurology

Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation

Irene Toldo et al.

SURGICAL NEUROLOGY (2009)

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Article Medicine, General & Internal

Incidental findings on brain magnetic resonance imaging: systematic review and meta-analysis

Zoe Morris et al.

BMJ-BRITISH MEDICAL JOURNAL (2009)

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Article Clinical Neurology

Cerebral cavernomas and human leukocyte antigens: preliminary clinical results

Galip Zihni Sanus et al.

SURGICAL NEUROLOGY (2007)

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Article Clinical Neurology

Coexistence of intracranial and spinal cavernous malformations: a study of prevalence and natural history

AA Cohen-Gadol et al.

JOURNAL OF NEUROSURGERY (2006)

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Article Clinical Neurology

Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations

P Labauge et al.

NEUROLOGY (2001)

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Article Clinical Neurology

De novo lesions in familial form of cerebral cavernous malformations: Clinical and MR features in 29 non-hispanic families

L Brunereau et al.

SURGICAL NEUROLOGY (2000)

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A murine model of cerebral cavernous malformations with acute hemorrhage

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