(Q35140102)

6 August 2017

title

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease (English)

1 reference

6 August 2017

1 reference

GOA release 2020-03-11

Forkhead box C1b

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Platelet-derived growth factor receptor, alpha polypeptide

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Sudha Seshadri

2

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6 August 2017

8

1 reference

6 August 2017

William Dietz

11

0 references

Sarah J Childs

Sarah J Childs

15

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Philip Gage

Philip J Gage

6

0 references

Kathleen J Millen

Kathleen J Millen

9

0 references

Myriam Fornage

4

Myriam Fornage

1 reference

6 August 2017

Curtis R French

1

1 reference

6 August 2017

Anita L Destefano

3

1 reference

6 August 2017

Corey R Arnold

5

1 reference

6 August 2017

Jonathan M Skarie

7

1 reference

6 August 2017

Ting Liu

10

1 reference

6 August 2017

Tsutomu Kume

12

1 reference

6 August 2017

Marten Hofker

13

1 reference

6 August 2017

Derek J Emery

14

1 reference

6 August 2017

Andrew J Waskiewicz

16

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6 August 2017

Ordan J Lehmann

17

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6 August 2017

language of work or name

English

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publication date

24 September 2014

1 reference

Journal of Clinical Investigation

6 August 2017

published in

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6 August 2017

volume

124

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6 August 2017

issue

11

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6 August 2017

page(s)

4877-4881

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Notch3 establishes brain vascular integrity by regulating pericyte number.

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Systematic identification of trans eQTLs as putative drivers of known disease associations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Risk of intraparenchymal hemorrhage with magnetic resonance imaging-defined leukoaraiosis and brain infarcts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

The clinical importance of white matter hyperintensities on brain magnetic resonance imaging: systematic review and meta-analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

FoxC1 is essential for vascular basement membrane integrity and hyaloid vessel morphogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Combinatorial regulation of endothelial gene expression by ets and forkhead transcription factors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Compartment-specific transcription factors orchestrate angiogenesis gradients in the embryonic brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Endothelial/pericyte interactions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Leukoaraiosis: an independent risk factor for stroke?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Platelet-derived growth factor receptor alpha subunit deleted Patch mouse exhibits severe cardiovascular dysmorphogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Foxc1 is required by pericytes during fetal brain angiogenesis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Essential role for thymosin β4 in regulating vascular smooth muscle cell development and vessel wall stability.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Specification of arterial, venous, and lymphatic endothelial cells during embryonic development

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Variants conferring risk of atrial fibrillation on chromosome 4q25.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

Cell autonomous requirement for PDGFRalpha in populations of cranial and cardiac neural crest cells.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347243

27 September 2018

Identifiers

DOI

10.1172/JCI75109

1 reference

6 August 2017

1 reference

6 August 2017

1 reference