De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation

Somatic mutations in intracranial arteriovenous malformations

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals

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Somatic Gain of KRAS Function in the Endothelium is Sufficient to Cause Vascular Malformations that Require MEK but not PI3K Signaling

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Mesenchymal Behavior of the Endothelium Promoted by SMAD6 Downregulation Is Associated With Brain Arteriovenous Malformation Microhemorrhage

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Endothelial to Mesenchymal Transition in Cardiovascular Disease

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KRAS G12D or G12V mutation in human brain arteriovenous malformations

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Endothelial to Mesenchymal Transition: Role in Physiology and in the Pathogenesis of Human Diseases

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Activating KRAS mutations in arteriovenous malformations of the brain: frequency and clinicopathologic correlation

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Elevated endothelial Sox2 causes lumen disruption and cerebral arteriovenous malformations

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(2019) Ilya Korsunsky et al.   NATURE METHODS

De Novo Mutations Reflect Development and Aging of the Human Germline

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Deciphering Brain Complexity Using Single-cell Sequencing

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RNA-Sequencing Highlights Inflammation and Impaired Integrity of the Vascular Wall in Brain Arteriovenous Malformations

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Hif-1α and Hif-2α regulate hemogenic endothelium and hematopoietic stem cell formation in zebrafish

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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

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Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain

(2018) Sergey I. Nikolaev et al.   NEW ENGLAND JOURNAL OF MEDICINE

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

A molecular atlas of cell types and zonation in the brain vasculature

(2018) Michael Vanlandewijck et al.   NATURE

High prevalence of KRAS/BRAF somatic mutations in brain and spinal cord arteriovenous malformations

(2018) Tao Hong et al.   BRAIN

The first wave of T lymphopoiesis in zebrafish arises from aorta endothelium independent of hematopoietic stem cells

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Parental influence on human germline de novo mutations in 1,548 trios from Iceland

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Lovastatin Alleviates Endothelial-to-Mesenchymal Transition in Glomeruli via Suppression of Oxidative Stress and TGF-β1 Signaling

(2017) Zejun Ma et al.   Frontiers in Pharmacology

Fine-tuning vascular fate during endothelial-mesenchymal transition

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Clonal evolution of glioblastoma under therapy

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Endothelial to mesenchymal transition is common in atherosclerotic lesions and is associated with plaque instability

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Pharmacological HIF2α inhibition improves VHL disease–associated phenotypes in zebrafish model

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De Novo Cerebrovascular Malformation in the Adult Mouse After Endothelial Alk1 Deletion and Angiogenic Stimulation

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EndMT contributes to the onset and progression of cerebral cavernous malformations

(2013) Luigi Maddaluno et al.   NATURE

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

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An anatomically comprehensive atlas of the adult human brain transcriptome

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

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Reliable detection of subclonal single-nucleotide variants in tumour cell populations

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Management of Pediatric Intracranial Arteriovenous Malformations: Experience With Multimodality Therapy

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Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

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The role of endothelial-to-mesenchymal transition in cancer progression

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