Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome (Q24323565)

basement membrane organization

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

cerebrovascular disease

1 reference

S Alamowitch

1

0 references

E Plaisier

2

0 references

P Favrole

3

0 references

C Prost

4

0 references

Z Chen

5

0 references

T Van Agtmael

6

0 references

B Marro

7

0 references

P Ronco

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

8

0 references

language of work or name

English

0 references

publication date

1 December 2009

0 references

published in

Neurology

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volume

73

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issue

22

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page(s)

1873-82

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cites work

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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Genetics of intracranial aneurysms

27 September 2017

1 reference

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Hypertensive cerebral small vessel disease and stroke.

27 September 2017

1 reference

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Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison.

27 September 2017

1 reference

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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

27 September 2017

1 reference

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Collagenous proteins of blood vessels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

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

27 September 2017

1 reference

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Patterns of MRI lesions in CADASIL.

30 May 2018

1 reference

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

30 May 2018

1 reference

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Periventricular lesions in the white matter on magnetic resonance imaging in the elderly. A morphometric correlation with arteriolosclerosis and dilated perivascular spaces

30 May 2018

1 reference

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A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

30 May 2018

1 reference

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Clinical and brain MRI follow-up study of a family with COL4A1 mutation

29 November 2018

1 reference

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COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage

29 November 2018

1 reference

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Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Hereditary porencephaly: clinical and MRI findings in two Dutch families.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Basement membrane type IV collagen molecules in the choroid plexus, pia mater and capillaries in the mouse brain

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

A semiquantative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2881859

Distribution of type I, III, IV and V collagen in normal and atherosclerotic human arterial wall: immunomorphological characteristics

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19949034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19949034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19949034