Search Results - "Snellings, Daniel"
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Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells
Published in Circulation research (26-10-2018)“…Vascular malformations arise in vessels throughout the entire body. Causative genetic mutations have been identified for many of these diseases; however,…”
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Cerebral Cavernous Malformation: From Mechanism to Therapy
Published in Circulation research (25-06-2021)“…Cerebral cavernous malformations are acquired vascular anomalies that constitute a common cause of central nervous system hemorrhage and stroke. The past 2…”
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Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
Published in American journal of human genetics (07-11-2019)“…Hereditary hemorrhagic telangiectasia (HHT) is a Mendelian disease characterized by vascular malformations (VMs) including visceral arteriovenous malformations…”
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Adaptive sequence divergence forged new neurodevelopmental enhancers in humans
Published in Cell (23-11-2022)“…Searches for the genetic underpinnings of uniquely human traits have focused on human-specific divergence in conserved genomic regions, which reflects adaptive…”
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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism
Published in Nature (London) (10-06-2021)“…Vascular malformations are thought to be monogenic disorders that result in dysregulated growth of blood vessels. In the brain, cerebral cavernous…”
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Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations
Published in Nature communications (02-11-2023)“…Cerebral Cavernous Malformations (CCMs) are vascular malformations of the central nervous system which can lead to moderate to severe neurological phenotypes…”
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Gonomics: uniting high performance and readability for genomics with Go
Published in Bioinformatics (Oxford, England) (01-08-2023)“…Abstract Summary Many existing software libraries for genomics require researchers to pick between competing considerations: the performance of compiled…”
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Characterization of longitudinal canal tissue in the acorn barnacle Amphibalanus amphitrite
Published in PloS one (10-12-2018)“…The morphology and composition of tissue located within parietal shell canals of the barnacle Amphibalanus amphitrite are described. Longitudinal canal tissue…”
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The diversity, evolution, and development of setal morphologies in bumble bees (Hymenoptera: Apidae: Bombus spp.)
Published in PeerJ (San Francisco, CA) (21-12-2022)“…Bumble bees are characterized by their thick setal pile that imparts aposematic color patterns often used for species-level identification. Like all bees, the…”
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Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations
Published in Acta neuropathologica communications (19-08-2019)“…Cerebral cavernous malformations (CCMs) are dilated capillaries causing epilepsy and stroke. Inheritance of a heterozygous mutation in CCM3/PDCD10 is…”
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Somatic Mutations Drive Vascular Malformation Initiation, Progression, and Predisposition
Published 01-01-2022“…Vascular malformations are a diverse class of focal lesions that may occur throughout the body and affect different vascular beds. Since the advent of…”
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Dissertation -
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Abstract TMP1: Multi-omic Biomarker Development In A Mendelian Neurovascular Disease, Cavernous Angioma
Published in Stroke (1970) (01-02-2022)“…IntroductionCavernous Angioma (CA) is a hemorrhagic neurovascular disease characterized by either a familial form with autosomal dominant germline mutations in…”
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Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease
Published in Translational stroke research (01-08-2023)“…Patients with familial cerebral cavernous malformation (CCM) inherit germline loss of function mutations and are susceptible to progressive development of…”
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