A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases
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Stephen H. Bell | M. Abramowicz | S. Allan | S. Sinha | K. Horsburgh | C. Vilain | T. Van Agtmael | A. Granata | Tao Wang | Z. Cader | Lauren Fleming | Maha Al-Thani | Mary Goodwin-Trotman | H. Markus | Krushangi Patel | Tom Van Agtmael
[1] F. de Leeuw,et al. The global burden of cerebral small vessel disease in low- and middle-income countries: A systematic review and meta-analysis , 2022, International journal of stroke : official journal of the International Stroke Society.
[2] L. Tsai,et al. Single-cell dissection of the human brain vasculature , 2022, Nature.
[3] Junlei Chang,et al. Blood–Brain Barrier Breakdown: An Emerging Biomarker of Cognitive Impairment in Normal Aging and Dementia , 2021, Frontiers in Neuroscience.
[4] V. Salomaa,et al. Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies , 2021, The Lancet Neurology.
[5] M. Z. Cader,et al. Global proteomic analysis of extracellular matrix in mouse and human brain highlights relevance to cerebrovascular disease , 2021, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.
[6] Duc-Huy T. Nguyen,et al. Pluripotent stem cell-derived epithelium misidentified as brain microvascular endothelium requires ETS factors to acquire vascular fate , 2021, Proceedings of the National Academy of Sciences.
[7] C. Lewis,et al. Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants , 2020, Nature Communications.
[8] J. Finsterer,et al. Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology , 2020, European journal of neurology.
[9] Jean-Frédéric Gerbeau,et al. Reducing Hypermuscularization of the Transitional Segment Between Arterioles and Capillaries Protects Against Spontaneous Intracerebral Hemorrhage , 2020, Circulation.
[10] Sara B. Linker,et al. Modeling Brain Disorders Using Induced Pluripotent Stem Cells. , 2019, Cold Spring Harbor perspectives in biology.
[11] Eric E. Smith,et al. New Treatment Approaches to Modify the Course of Cerebral Small Vessel Diseases. , 2019, Stroke.
[12] B. Norrving,et al. Genome-wide association study of cerebral small vessel disease reveals established and novel loci. , 2019, Brain : a journal of neurology.
[13] M. Dichgans,et al. Small vessel disease: mechanisms and clinical implications , 2019, The Lancet Neurology.
[14] D. Iyer,et al. A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration , 2019, Stem cells and development.
[15] K. Kadler,et al. 4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease , 2018, Human molecular genetics.
[16] Samira M. Azarin,et al. Modeling and rescue of defective blood–brain barrier function of induced brain microvascular endothelial cells from childhood cerebral adrenoleukodystrophy patients , 2018, Fluids and Barriers of the CNS.
[17] A. Joutel,et al. Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1‐related stroke , 2018, The Journal of pathology.
[18] Andrew D. Johnson,et al. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes , 2018, Nature Genetics.
[19] A. Wallin,et al. Biochemical markers in vascular cognitive impairment associated with subcortical small vessel disease - A consensus report , 2017, BMC Neurology.
[20] E. Lippmann,et al. Accelerated differentiation of human induced pluripotent stem cells to blood–brain barrier endothelial cells , 2017, Fluids and Barriers of the CNS.
[21] K. Liu,et al. Blood Occludin Level as a Potential Biomarker for Early Blood Brain Barrier Damage Following Ischemic Stroke , 2017, Scientific Reports.
[22] David A Hartmann,et al. Pericytes as Inducers of Rapid, Matrix Metalloproteinase-9-Dependent Capillary Damage during Ischemia , 2017, The Journal of Neuroscience.
[23] Guanming Wu,et al. Functional Interaction Network Construction and Analysis for Disease Discovery. , 2017, Methods in molecular biology.
[24] U. Schlötzer-Schrehardt,et al. ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice , 2016, Disease Models & Mechanisms.
[25] M. Nelson,et al. Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain? , 2016, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.
[26] M. Jeanne,et al. Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention , 2015, Circulation.
[27] Lisa J. Martin,et al. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease , 2015, Neurology.
[28] W. Huber,et al. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.
[29] Valeria V Orlova,et al. Generation, expansion and functional analysis of endothelial cells and pericytes derived from human pluripotent stem cells , 2014, Nature Protocols.
[30] I. Deary,et al. Vascular risk factors, large-artery atheroma, and brain white matter hyperintensities , 2014, Neurology.
[31] F. Faraci,et al. Cerebral small vessel disease: insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. , 2014, Stroke.
[32] Christine L. Mummery,et al. Functionality of Endothelial Cells and Pericytes From Human Pluripotent Stem Cells Demonstrated in Cultured Vascular Plexus and Zebrafish Xenografts , 2014, Arteriosclerosis, thrombosis, and vascular biology.
[33] K. Kadler,et al. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke , 2013, Human molecular genetics.
[34] Thomas R. Gingeras,et al. STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..
[35] Jie Liu,et al. Matrix Metalloproteinase-2-Mediated Occludin Degradation and Caveolin-1-Mediated Claudin-5 Redistribution Contribute to Blood–Brain Barrier Damage in Early Ischemic Stroke Stage , 2012, The Journal of Neuroscience.
[36] S. Greenberg,et al. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. , 2012, American journal of human genetics.
[37] M. Trotter,et al. Generation of human vascular smooth muscle subtypes provides insight into embryological origin-dependent disease susceptibility , 2012, Nature Biotechnology.
[38] S. Black,et al. Vascular Contributions to Cognitive Impairment and Dementia: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association , 2011, Stroke.
[39] Colin N. Dewey,et al. RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome , 2011, BMC Bioinformatics.
[40] A. Dorrance,et al. Doxycycline, a matrix metalloprotease inhibitor, reduces vascular remodeling and damage after cerebral ischemia in stroke-prone spontaneously hypertensive rats. , 2011, American journal of physiology. Heart and circulatory physiology.
[41] Jeffrey F. Thompson,et al. Matrix Metalloproteinases Are Associated With Increased Blood–Brain Barrier Opening in Vascular Cognitive Impairment , 2011, Stroke.
[42] H. H. Marti,et al. Matrix Metalloproteinase-9 Mediates Hypoxia-Induced Vascular Leakage in the Brain via Tight Junction Rearrangement , 2010, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.
[43] J. Rankin,et al. A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. , 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[44] E. Lo,et al. MMP-9–Positive Neutrophil Infiltration Is Associated to Blood–Brain Barrier Breakdown and Basal Lamina Type IV Collagen Degradation During Hemorrhagic Transformation After Human Ischemic Stroke , 2008, Stroke.
[45] Jeffrey F. Thompson,et al. Matrix Metalloproteinase-Mediated Disruption of Tight Junction Proteins in Cerebral Vessels is Reversed by Synthetic Matrix Metalloproteinase Inhibitor in Focal Ischemia in Rat , 2007, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.
[46] S. Cross,et al. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. , 2005, Human molecular genetics.
[47] P. Heutink,et al. Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly , 2005, Science.
[48] A. Varelias,et al. Up-regulation of MMP-2 and MMP-9 leads to degradation of type IV collagen during skeletal muscle reperfusion injury; protection by the MMP inhibitor, doxycycline. , 2002, European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery.
[49] B. C. Killalea. Haemorrhagic stroke. , 1998, Australian family physician.
[50] A. Clark,et al. Increased gelatinase A (MMP-2) and gelatinase B (MMP-9) activities in human brain after focal ischemia , 1997, Neuroscience Letters.