Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. (Q37808273)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Review: molecular genetics and pathology of hereditary small vessel diseases of the brain (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Lucinda Craggs

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Marc Baumann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

H Kalimo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

R N Kalaria

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

1 February 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

Neuropathology and Applied Neurobiology

16 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

94-113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062344%20AND%20SRC:MED&resulttype=core&format=json

Genes contributing to risk for common forms of stroke

16 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Genetics of ischaemic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Advances in genomic analysis of stroke: what have we learned and where are we headed?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Genomewide association studies of stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Common mitochondrial sequence variants in ischemic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Genetic determinants of white matter hyperintensities on brain scans: a systematic assessment of 19 candidate gene polymorphisms in 46 studies in 19,000 subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Advances in molecular genetics and pathology of cerebrovascular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Towards defining the neuropathological substrates of vascular dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19-21, 1993.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

MRI features of pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions: a new disease entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Retinal vascular abnormalities in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Insidious cognitive decline in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Damage within a network of white matter regions underlies executive dysfunction in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Monitoring disease progression in CADASIL with diffusion magnetic resonance imaging: a study with whole brain histogram analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Rounding up the usual suspects: lacunar infarction and impairment in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Detection of the founder effect in Finnish CADASIL families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Childhood-onset CADASIL: clinical, imaging, and neurocognitive features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

CADASIL: underdiagnosed in psychiatric patients?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Patterns of MRI lesions in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Arterioles of the lenticular nucleus in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: MR Imaging Findings at Different Ages—3rd–6th Decades

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Intracerebral haemorrhage in CADASIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Spontaneous lobar haemorrhage in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Intracerebral hemorrhages in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Histopathological abnormalities in ocular blood vessels of CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Coexistence of CADASIL and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral microbleeds in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Overexpression of semicarbazide sensitive amine oxidase in the cerebral blood vessels in patients with Alzheimer's disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Glycohistochemical characterization of vascular muscle cell destruction in CADASIL subjects by lectins, neoglycoconjugates and galectin-specific antibodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

CADASIL mimicking primary angiitis of the central nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Large cerebral artery involvement in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

A cortical form of CADASIL with cerebral Aβ amyloidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Progressive supranuclear palsy phenotype secondary to CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cortical neuronal apoptosis in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch signaling: cell fate control and signal integration in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch function in the vasculature: insights from zebrafish, mouse and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Mouse Notch 3 expression in the pre- and postnatal brain: relationship to the stroke and dementia syndrome CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch and vascular smooth muscle cell phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

An overview of Notch3 function in vascular smooth muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch3 is required for arterial identity and maturation of vascular smooth muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Functional redundancy of the Notch gene family during mouse embryogenesis: analysis of Notch gene expression in Notch3-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Smooth muscle Notch1 mediates neointimal formation after vascular injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Jagged1-selective notch signaling induces smooth muscle differentiation via a RBP-Jkappa-dependent pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Determinants of Notch-3 receptor expression and signaling in vascular smooth muscle cells: implications in cell-cycle regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

HRT1 modulates vascular smooth muscle cell proliferation and apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

The benefit of docosahexanoic acid on the migration of vascular smooth muscle cells is partially dependent on Notch regulation of MMP-2/-9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch3 is a major regulator of vascular tone in cerebral and tail resistance arteries

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Characteristic features of in vivo skin microvascular reactivity in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Abnormal vasoconstrictor responses to angiotensin II and noradrenaline in isolated small arteries from patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

PI 3-kinase, Akt and cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch3 signaling in vascular smooth muscle cells induces c-FLIP expression via ERK/MAPK activation. Resistance to Fas ligand-induced apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Implications of the serine protease HtrA1 in amyloid precursor protein processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Transforming growth factor beta and atherosclerosis: so far, so good for the protective cytokine hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

How cells read TGF-beta signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Extracellular control of TGFbeta signalling in vascular development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

TGF-beta and atherosclerosis in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

New roles for the major human 3'-5' exonuclease TREX1 in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Aicardi-Goutieres syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Trex1 prevents cell-intrinsic initiation of autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

TREX1 acts in degrading damaged DNA from drug-treated tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Macromolecular organization of basement membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Neurological signs in relation to type of cerebrovascular disease in vascular dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

The microvascular changes in cases of hereditary multi-infarct disease of the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

A novel hereditary small vessel disease of the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2010.01147.X