(Q36105205)

12 August 2017

COL4A2 mutation associated with familial porencephaly and small-vessel disease (English)

1 reference

12 August 2017

Elly Verbeek

1

1 reference

12 August 2017

Marije E C Meuwissen

2

1 reference

12 August 2017

Frans W Verheijen

3

1 reference

12 August 2017

Paul P Govaert

4

1 reference

12 August 2017

Daniel J Licht

5

1 reference

12 August 2017

Debbie S Kuo

6

1 reference

12 August 2017

Cathryn J Poulton

7

1 reference

12 August 2017

Rachel Schot

8

1 reference

12 August 2017

Maarten H Lequin

9

1 reference

12 August 2017

Jeroen Dudink

10

1 reference

12 August 2017

Dicky J Halley

11

1 reference

12 August 2017

René I F de Coo

12

1 reference

12 August 2017

Jan C den Hollander

13

1 reference

12 August 2017

Renske Oegema

14

1 reference

12 August 2017

Douglas B Gould

15

1 reference

12 August 2017

Grazia M S Mancini

16

1 reference

12 August 2017

15 February 2012

1 reference

European Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

20

1 reference

12 August 2017

8

1 reference

12 August 2017

844-851

1 reference

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Cellular origins of type IV collagen networks in developing glomeruli.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Biological functions of miR-29b contribute to positive regulation of osteoblast differentiation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Genetics of stroke: a review of recent advances.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

2 October 2017

Mammalian collagen IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

IRE1 signaling affects cell fate during the unfolded protein response

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

mir-29 regulates Mcl-1 protein expression and apoptosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

A review of genetic causes of ischemic and hemorrhagic stroke

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Genetics of ischaemic stroke

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificati

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

A developmental and genetic classification for malformations of cortical development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Characterization of alpha1(IV) collagen mutations in Caenorhabditis elegans and the effects of alpha1 and alpha2(IV) mutations on type IV collagen distribution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

The NC1 domain of type IV collagen promotes axonal growth in sympathetic neurons through interaction with the alpha 1 beta 1 integrin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

New functions for non-collagenous domains of human collagen type IV. Novel integrin ligands inhibiting angiogenesis and tumor growth in vivo.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Differential effects of laminin, intact type IV collagen, and specific domains of type IV collagen on endothelial cell adhesion and migration

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

2 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.20

Ophthalmological features associated with COL4A1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.20

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.20

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.20

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.20

Accumulation of type IV collagen in dilated ER leads to apoptosis in Hsp47-knockout mouse embryos via induction of CHOP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.20

Diffusion tensor imaging: the normal evolution of ADC, RA, FA, and eigenvalues studied in multiple anatomical regions of the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.20

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400734

Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis

21 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22333902

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/22333902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.20

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22333902

1 reference