Published in N Engl J Med on April 06, 2006
Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the american heart association/american stroke association. Stroke (2011) 10.11
Basement membranes: cell scaffoldings and signaling platforms. Cold Spring Harb Perspect Biol (2011) 2.73
Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation (2011) 1.96
Vitamin C function in the brain: vital role of the ascorbate transporter SVCT2. Free Radic Biol Med (2009) 1.94
Developmental and pathogenic mechanisms of basement membrane assembly. Curr Pharm Des (2009) 1.80
A sulfilimine bond identified in collagen IV. Science (2009) 1.69
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Ann Neurol (2012) 1.62
The relationship of retinopathy in persons without diabetes to the 15-year incidence of diabetes and hypertension: Beaver Dam Eye Study. Trans Am Ophthalmol Soc (2006) 1.51
The diagnosis, management, and postnatal prevention of intraventricular hemorrhage in the preterm neonate. Clin Perinatol (2008) 1.50
Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation. BMC Biol (2016) 1.42
Hemorrhagic transformation after ischemic stroke in animals and humans. J Cereb Blood Flow Metab (2013) 1.41
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet (2011) 1.38
Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol (2011) 1.34
Establishment and Dysfunction of the Blood-Brain Barrier. Cell (2015) 1.30
Small vessels, big problems. N Engl J Med (2006) 1.29
The glomerular basement membrane. Exp Cell Res (2012) 1.28
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet (2012) 1.26
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology (2009) 1.21
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet (2011) 1.20
Extracellular matrix and matrix receptors in blood-brain barrier formation and stroke. Dev Neurobiol (2011) 1.18
Cerebral microbleeds: a guide to detection and clinical relevance in different disease settings. Neuroradiology (2013) 1.17
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Am J Hum Genet (2011) 1.17
A unique covalent bond in basement membrane is a primordial innovation for tissue evolution. Proc Natl Acad Sci U S A (2013) 1.12
Mutations in a P-type ATPase gene cause axonal degeneration. PLoS Genet (2012) 1.11
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease. Proc Natl Acad Sci U S A (2011) 1.08
Glomerular basement membrane composition and the filtration barrier. Pediatr Nephrol (2011) 1.06
Organogenesis of the kidney glomerulus: focus on the glomerular basement membrane. Organogenesis (2011) 1.04
COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet (2012) 0.98
FoxC1 is essential for vascular basement membrane integrity and hyaloid vessel morphogenesis. Invest Ophthalmol Vis Sci (2009) 0.94
Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. Hum Mol Genet (2010) 0.94
Ablation of astrocytic laminin impairs vascular smooth muscle cell function and leads to hemorrhagic stroke. J Cell Biol (2013) 0.93
Genetics of cerebral small vessel disease. J Stroke (2015) 0.93
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet (2010) 0.93
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Hum Mol Genet (2013) 0.93
Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention. Circulation (2015) 0.93
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease. J Am Soc Nephrol (2015) 0.92
Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models. J Mol Biol (2007) 0.92
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Hum Mol Genet (2013) 0.91
Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest (2014) 0.91
Treatment targets in intracerebral hemorrhage. Neurotherapeutics (2011) 0.89
Developmental distribution of collagen IV isoforms and relevance to ocular diseases. Matrix Biol (2009) 0.88
Aortic abnormalities in males with Alport syndrome. Nephrol Dial Transplant (2010) 0.88
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clin Genet (2014) 0.88
Peroxidasin is essential for eye development in the mouse. Hum Mol Genet (2014) 0.87
Unravelling the genetics of ischaemic stroke. PLoS Med (2010) 0.87
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. Hum Mol Genet (2012) 0.87
Crucial role for the VWF A1 domain in binding to type IV collagen. Blood (2015) 0.87
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. J Neurol (2014) 0.87
Intraocular hemorrhage causes retinal vascular dysfunction via plasma kallikrein. Invest Ophthalmol Vis Sci (2013) 0.86
Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Brain Res (2012) 0.86
Prognostic Impact of Cerebral Small Vessel Disease on Stroke Outcome. J Stroke (2015) 0.86
Role of the podocyte (and glomerular endothelium) in building the GBM. Semin Nephrol (2012) 0.86
Neuropathological diagnosis of vascular cognitive impairment and vascular dementia with implications for Alzheimer's disease. Acta Neuropathol (2016) 0.85
Assembly, heterogeneity, and breaching of the basement membranes. Cell Adh Migr (2014) 0.85
Intracerebral hemorrhage in a young man. CMAJ (2010) 0.84
Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates. Pediatr Res (2013) 0.83
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. BMC Med Genet (2014) 0.83
Stroke-related translational research. Arch Neurol (2011) 0.83
Tissue localization and extracellular matrix degradation by PI, PII and PIII snake venom metalloproteinases: clues on the mechanisms of venom-induced hemorrhage. PLoS Negl Trop Dis (2015) 0.83
Microvascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brain. Brain Pathol (2014) 0.82
Cerebral small vessel disease: Capillary pathways to stroke and cognitive decline. J Cereb Blood Flow Metab (2015) 0.82
Detection of metals and metalloproteins in the plasma of stroke patients by mass spectrometry methods. Metallomics (2012) 0.81
Genetic factors in cerebral small vessel disease and their impact on stroke and dementia. J Cereb Blood Flow Metab (2016) 0.81
Monogenic causes of stroke: now and the future. J Neurol (2015) 0.81
Association of COL4A1 genetic polymorphisms with coronary artery disease in Uygur population in Xinjiang, China. Lipids Health Dis (2013) 0.81
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus. Mol Vis (2011) 0.81
Endothelial depletion of murine SRF/MRTF provokes intracerebral hemorrhagic stroke. Proc Natl Acad Sci U S A (2015) 0.81
Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain? J Cereb Blood Flow Metab (2016) 0.80
Elk3 deficiency causes transient impairment in post-natal retinal vascular development and formation of tortuous arteries in adult murine retinae. PLoS One (2014) 0.80
Supramolecular organization of the α121-α565 collagen IV network. J Biol Chem (2014) 0.80
Cilostazol ameliorates collagenase-induced cerebral hemorrhage by protecting the blood-brain barrier. J Cereb Blood Flow Metab (2015) 0.79
Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. Neurology (2015) 0.79
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy. Sci Rep (2016) 0.79
Muscle Tissue Damage Induced by the Venom of Bothrops asper: Identification of Early and Late Pathological Events through Proteomic Analysis. PLoS Negl Trop Dis (2016) 0.79
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biol (2016) 0.79
The nature and biology of basement membranes. Matrix Biol (2016) 0.78
Stroke Risk Factors, Genetics, and Prevention. Circ Res (2017) 0.78
Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction. PLoS Genet (2016) 0.78
Von Willebrand factor inhibits mature smooth muscle gene expression through impairment of Notch signaling. PLoS One (2013) 0.78
Transcriptomics of post-stroke angiogenesis in the aged brain. Front Aging Neurosci (2014) 0.78
Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis. Stroke Res Treat (2011) 0.78
Copy number variations and stroke. Neurol Sci (2016) 0.78
The incidence of cerebral amyloid angiopathy in surgically treated intracranial hemorrhage in the Chinese population. Neurosurg Rev (2013) 0.77
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Graefes Arch Clin Exp Ophthalmol (2014) 0.77
Genes and environment in neonatal intraventricular hemorrhage. Semin Perinatol (2015) 0.77
Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe. BMC Med Genomics (2017) 0.76
ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice. Dis Model Mech (2016) 0.76
Collagen Type IV and Laminin Expressions during Cartilage Repair and in Late Clinically Failed Repair Tissues from Human Subjects. Cartilage (2016) 0.76
Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma. Case Rep Neurol (2015) 0.76
Lens capsule as a model to study type IV collagen. Connect Tissue Res (2014) 0.76
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect. Am J Pathol (2017) 0.76
Endothelial cell-oligodendrocyte interactions in small vessel disease and aging. Clin Sci (Lond) (2017) 0.75
A preliminary method development study to identify potential stroke biomarkers in plasma using multiple chromatographies with nanoLC-ESIMS detection. J Neural Transm (Vienna) (2013) 0.75
Miconazole protects blood vessels from MMP9-dependent rupture and hemorrhage. Dis Model Mech (2017) 0.75
A Comprehensive View of the Structural and Functional Alterations of Extracellular Matrix by Snake Venom Metalloproteinases (SVMPs): Novel Perspectives on the Pathophysiology of Envenoming. Toxins (Basel) (2016) 0.75
Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation. Neurol Sci (2015) 0.75
Phylogenomic analyses reveal a molecular signature linked to subterranean adaptation in rodents. BMC Evol Biol (2015) 0.75
The vascular basement membrane in the healthy and pathological brain. J Cereb Blood Flow Metab (2017) 0.75
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
The classical complement cascade mediates CNS synapse elimination. Cell (2007) 9.06
Glomerular-specific alterations of VEGF-A expression lead to distinct congenital and acquired renal diseases. J Clin Invest (2003) 6.44
The RESTORE study: ranibizumab monotherapy or combined with laser versus laser monotherapy for diabetic macular edema. Ophthalmology (2011) 6.33
A promoter-level mammalian expression atlas. Nature (2014) 6.25
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature (2006) 5.07
The Mouse Tumor Biology Database: a public resource for cancer genetics and pathology of the mouse. Cancer Res (2002) 4.31
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Somatic retrotransposition alters the genetic landscape of the human brain. Nature (2011) 4.16
SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis. Nature (2011) 4.14
The control of vascular integrity by endothelial cell junctions: molecular basis and pathological implications. Dev Cell (2009) 3.87
Manipulation of stem cell proliferation and lineage commitment: visualisation of label-retaining cells in wholemounts of mouse epidermis. Development (2003) 3.84
Elimination of antigen-presenting cells and autoreactive T cells by Fas contributes to prevention of autoimmunity. Immunity (2007) 3.84
A simplified laminin nomenclature. Matrix Biol (2005) 3.81
CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science (2003) 3.61
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet (2006) 3.54
Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol (2007) 3.45
The PCR suite. Bioinformatics (2004) 3.33
Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet (2001) 3.30
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels. Aging Cell (2009) 3.16
Notch3 is required for arterial identity and maturation of vascular smooth muscle cells. Genes Dev (2004) 3.00
Notch-deficient skin induces a lethal systemic B-lymphoproliferative disorder by secreting TSLP, a sentinel for epidermal integrity. PLoS Biol (2008) 2.98
Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice. J Cell Biol (2005) 2.98
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (2005) 2.92
Dome-shaped macula in eyes with myopic posterior staphyloma. Am J Ophthalmol (2008) 2.92
Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration. Vis Neurosci (2005) 2.86
Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. Proc Natl Acad Sci U S A (2005) 2.85
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science (2011) 2.78
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. Lancet (2002) 2.78
Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects. Eur J Hum Genet (2008) 2.75
EndMT contributes to the onset and progression of cerebral cavernous malformations. Nature (2013) 2.70
Podocyte-specific deletion of dicer alters cytoskeletal dynamics and causes glomerular disease. J Am Soc Nephrol (2008) 2.69
Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage. PLoS Genet (2005) 2.68
Pathbase: a database of mutant mouse pathology. Nucleic Acids Res (2004) 2.66
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol (2005) 2.64
Vertebral artery dissection: presenting findings and predictors of outcome. Stroke (2006) 2.52
Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science (2003) 2.41
Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease. Curr Biol (2005) 2.35
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics (2003) 2.29
Molecular clustering identifies complement and endothelin induction as early events in a mouse model of glaucoma. J Clin Invest (2011) 2.25
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol (2003) 2.23
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain (2003) 2.20
The Mouse Tumor Biology database. Nat Rev Cancer (2008) 2.15
Podocytes use FcRn to clear IgG from the glomerular basement membrane. Proc Natl Acad Sci U S A (2008) 2.12
Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet (2011) 2.12
Vascular endothelial growth factor a signaling in the podocyte-endothelial compartment is required for mesangial cell migration and survival. J Am Soc Nephrol (2006) 2.10
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
Molecular phenotyping for analyzing subtle genetic effects in mice: application to an angiotensinogen gene titration. Proc Natl Acad Sci U S A (2002) 2.08
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol (2005) 2.06
Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability. Am J Hum Genet (2010) 2.02
Genetics of cavernous angiomas. Lancet Neurol (2007) 2.02
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
SHARPIN is an endogenous inhibitor of β1-integrin activation. Nat Cell Biol (2011) 2.01
Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals. Cell (2007) 2.00
Long-term follow-up of high myopic foveoschisis: natural course and surgical outcome. Am J Ophthalmol (2006) 1.94
Proteinuria precedes podocyte abnormalities inLamb2-/- mice, implicating the glomerular basement membrane as an albumin barrier. J Clin Invest (2006) 1.93
Gamma-secretase activity is dispensable for mesenchyme-to-epithelium transition but required for podocyte and proximal tubule formation in developing mouse kidney. Development (2003) 1.87
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol (2008) 1.86
Complete genome sequence of a novel avian paramyxovirus. J Virol (2012) 1.85
Macular retinoschisis in highly myopic eyes. Am J Ophthalmol (2002) 1.85
Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet (2005) 1.85
Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation. Genesis (2003) 1.84
Glaucoma: thinking in new ways-a rôle for autonomous axonal self-destruction and other compartmentalised processes? Prog Retin Eye Res (2005) 1.83
Cdcs1, a major colitogenic locus in mice, regulates innate and adaptive immune response to enteric bacterial antigens. Gastroenterology (2005) 1.81
Linkage disequilibrium in young genetically isolated Dutch population. Eur J Hum Genet (2004) 1.80
Optical coherence tomography assessment of the vitreoretinal relationship in diabetic macular edema. Am J Ophthalmol (2005) 1.79
Antithrombotic therapy and bleeding risk in a prospective cohort study of patients with cerebral cavernous malformations. Stroke (2012) 1.77
Ancient papillomavirus-host co-speciation in Felidae. Genome Biol (2007) 1.75
Maintenance of glomerular filtration barrier integrity requires laminin alpha5. J Am Soc Nephrol (2010) 1.73
Persistence of fundus fluorescence after use of indocyanine green for macular surgery. Ophthalmology (2003) 1.73
Characterization of macular edema from various etiologies by optical coherence tomography. Am J Ophthalmol (2005) 1.71
Podocyte-specific deletion of integrin-linked kinase results in severe glomerular basement membrane alterations and progressive glomerulosclerosis. J Am Soc Nephrol (2006) 1.70
'Cyclic alopecia' in Msx2 mutants: defects in hair cycling and hair shaft differentiation. Development (2003) 1.70
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Distinct epitopes for anti-glomerular basement membrane alport alloantibodies and goodpasture autoantibodies within the noncollagenous domain of alpha3(IV) collagen: a janus-faced antigen. J Am Soc Nephrol (2005) 1.69
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
Diagnosis of macular pseudoholes and lamellar macular holes by optical coherence tomography. Am J Ophthalmol (2004) 1.68
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet (2012) 1.68
DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor. J Biol Chem (2006) 1.68
Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome. Am J Pathol (2002) 1.67
Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. J Clin Invest (2006) 1.66
Under pressure: cellular and molecular responses during glaucoma, a common neurodegeneration with axonopathy. Annu Rev Neurosci (2012) 1.65
Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice. Dis Model Mech (2011) 1.62
Partial rescue of glomerular laminin alpha5 mutations by wild-type endothelia produce hybrid glomeruli. J Am Soc Nephrol (2007) 1.62
Effects of pressure overload on extracellular matrix expression in the heart of the atrial natriuretic peptide-null mouse. Hypertension (2003) 1.61