Genetic factors in cerebral small vessel disease and their impact on stroke and dementia

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

(2015) K. Rannikmae et al.   NEUROLOGY

Cysteine-Sparing CADASIL Mutations inNOTCH3Show Proaggregatory Properties In Vitro

(2015) Frank Arne Wollenweber et al.   STROKE

Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage

(2014) Daniel Woo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuropathology and Genetics of Cerebroretinal Vasculopathies

(2014) Grant R. Kolar et al.   BRAIN PATHOLOGY

Interpretation ofNOTCH3mutations in the diagnosis of CADASIL

(2014) Julie W Rutten et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease

(2014) Curtis R. French et al.   JOURNAL OF CLINICAL INVESTIGATION

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients

(2014) Silvia Bianchi et al.   JOURNAL OF NEUROLOGY

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

(2014) Anubha Mahajan et al.   NATURE GENETICS

Two novel HTRA1 mutations in a European CARASIL patient

(2014) S. Bianchi et al.   NEUROLOGY

Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12

(2014) L. L. Kilarski et al.   NEUROLOGY

Genetic variants of Adam17 differentially regulate TGF  signaling to modify vascular pathology in mice and humans

(2014) K. Kawasaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling

(2014) Nathalie Beaufort et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Features of Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

(2014) Hiroaki Nozaki et al.   STROKE

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits

(2014) Jessica Kast et al.   Acta Neuropathologica Communications

A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis

(2013) Atsumi Taguchi et al.   BIOCHEMICAL JOURNAL

Abnormal recruitment of extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in CADASIL

(2013) Marie Monet-Leprêtre et al.   BRAIN

Loci influencing blood pressure identified using a cardiovascular gene-centric array

(2013) Santhi K. Ganesh, Vinicius Tragante, Wei Guo, Yiran Guo, Matthew B. Lanktree, Erin N. Smith, Toby Johnson, Berta Almoguera Castillo, John Barnard, Jens Baumert, Yen-Pei Christy Chang, Clara C. Elbers, Martin Farrall, Mary E. Fischer, Nora Franceschini, Tom R. Gaunt, Johannes M.I.H. Gho, Christian Gieger, Yan Gong, Aaron Isaacs, Marcus E. Kleber, Irene Mateo Leach, Caitrin W. McDonough, Matthijs F.L. Meijs, Olle Mellander, Cliona M. Molony, Ilja M. Nolte, Sandosh Padmanabhan, Tom S. Price, Ramakrishnan Rajagopalan, Jonathan Shaffer, Sonia Shah, Haiqing Shen, Nicole Soranzo, Peter J. van der Most, Erik P.A. Van Iperen, Jessic A. Van Setten, Judith M. Vonk, Li Zhang, Amber L. Beitelshees, Gerald S. Berenson, Deepak L. Bhatt, Jolanda M.A. Boer, Eric Boerwinkle, Ben Burkley, Amber Burt, Aravinda Chakravarti, Wei Chen, Rhonda M. Cooper-DeHoff, Sean P. Curtis, Albert Dreisbach, David Duggan, Georg B. Ehret, Richard R. Fabsitz, Myriam Fornage, Ervin Fox, Clement E. Furlong, Ron T. Gansevoort, Marten H. Hofker, G. Kees Hovingh, Susan A. Kirkland, Kandice Kottke-Marchant, Abdullah Kutlar, Andrea Z. LaCroix, Taimour Y. Langaee, Yun R. Li, Honghuang Lin, Kiang Liu, Steffi Maiwald, Rainer Malik, Gurunathan Murugesan, Christopher Newton-Cheh, Jeffery R. O'Connell, N. Charlotte Onland-Moret, Willem H. Ouwehand et al.   HUMAN MOLECULAR GENETICS

TGFβ Signaling and Cardiovascular Diseases

(2013) Evangelia Pardali et al.   International Journal of Biological Sciences

Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging

(2013) Joanna M Wardlaw et al.   LANCET NEUROLOGY

Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration

(2013) Joanna M Wardlaw et al.   LANCET NEUROLOGY

Serine Protease HTRA1 Antagonizes Transforming Growth Factor-β Signaling by Cleaving Its Receptors and Loss of HTRA1 In Vivo Enhances Bone Formation

(2013) Julie R. Graham et al.   PLoS One

Heritability Estimates Identify a Substantial Genetic Contribution to Risk and Outcome of Intracerebral Hemorrhage

(2013) William J. Devan et al.   STROKE

Common Variants Within Oxidative Phosphorylation Genes Influence Risk of Ischemic Stroke and Intracerebral Hemorrhage

(2013) Christopher D. Anderson et al.   STROKE

17q25 Locus Is Associated With White Matter Hyperintensity Volume in Ischemic Stroke, But Not With Lacunar Stroke Status

(2013) Poneh Adib-Samii et al.   STROKE

Shared Genetic Susceptibility to Ischemic Stroke and Coronary Artery Disease

(2013) Martin Dichgans et al.   STROKE

COL4A2 mutation associated with familial porencephaly and small-vessel disease

(2012) Elly Verbeek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

(2012) R. Lemmens et al.   HUMAN MOLECULAR GENETICS

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

Hereditary cerebral small vessel diseases: A review

(2012) Antonio Federico et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Cerebral microinfarcts: the invisible lesions

(2012) Eric E Smith et al.   LANCET NEUROLOGY

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies

(2012) Matthew Traylor et al.   LANCET NEUROLOGY

The minimum prevalence of CADASIL in northeast England

(2012) S. K. Narayan et al.   NEUROLOGY

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

(2011) Marion Jeanne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association studies of cerebral white matter lesion burden

(2011) Myriam Fornage et al.   ANNALS OF NEUROLOGY

Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease

(2011) H. Schmidt et al.   BRAIN

Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis

(2011) Marco Duering et al.   HUMAN MOLECULAR GENETICS

Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1

(2011) Atsushi Shiga et al.   HUMAN MOLECULAR GENETICS

High Temperature Requirement Factor A1 (HTRA1) Gene Regulates Angiogenesis through Transforming Growth Factor-β Family Member Growth Differentiation Factor 6

(2011) Li Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): From Discovery to Gene Identification

(2011) Toshio Fukutake   Journal of Stroke & Cerebrovascular Diseases

APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study

(2011) Alessandro Biffi et al.   LANCET NEUROLOGY

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease

(2011) J. F. Arboleda-Velasquez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-Wide Association Study of Vascular Dementia

(2011) Elisabeth M.C. Schrijvers et al.   STROKE

A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci

(2011) Jonathan P. Bradfield et al.   PLoS Genetics

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants at APOE influence risk of deep and lobar intracerebral hemorrhage

(2010) Alessandro Biffi et al.   ANNALS OF NEUROLOGY

Common mitochondrial sequence variants in ischemic stroke

(2010) Christopher D. Anderson et al.   ANNALS OF NEUROLOGY

Pathogenesis of CADASIL

(2010) Anne Joutel   BIOESSAYS

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

(2010) Anne Joutel et al.   JOURNAL OF CLINICAL INVESTIGATION

A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population

(2010) M. Mendioroz et al.   NEUROLOGY

The Causative Classification of Stroke system: An international reliability and optimization study

(2010) E. M. Arsava et al.   NEUROLOGY

CADASIL mutations enhance spontaneous multimerization of NOTCH3

(2009) C. Opherk et al.   HUMAN MOLECULAR GENETICS

Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract

(2009) Zeynep Firtina et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?

(2009) A. Quattrone et al.   NEUROLOGY

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

(2009) Kenju Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Extracellular Matrix: Not Just Pretty Fibrils

(2009) R. O. Hynes   SCIENCE

The 1425G/A SNP in PRKCH Is Associated With Ischemic Stroke and Cerebral Hemorrhage in a Chinese Population

(2009) Lijun Wu et al.   STROKE

Potential Animal Models of Lacunar Stroke

(2009) Emma L. Bailey et al.   STROKE

Association between PRKCH gene polymorphisms and subcortical silent brain infarction

(2008) M. Serizawa et al.   ATHEROSCLEROSIS

HtrA1-dependent proteolysis of TGF-β controls both neuronal maturation and developmental survival

(2008) S Launay et al.   CELL DEATH AND DIFFERENTIATION

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

(2008) Jason D Cooper et al.   NATURE GENETICS

CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?

(2008) R. Scheid et al.   NEUROLOGY

Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

(2007) Takashi Oide et al.   NEUROPATHOLOGY