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2004 1
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Page 1
Vascular Collagen Type-IV in Hypertension and Cerebral Small Vessel Disease.
Kumar AA, Yeo N, Whittaker M, Attra P, Barrick TR, Bridges LR, Dickson DW, Esiri MM, Farris CW, Graham D, Lin WL, Meijles DN, Pereira AC, Perry G, Rosene DL, Shtaya AB, Van Agtmael T, Zamboni G, Hainsworth AH. Kumar AA, et al. Stroke. 2022 Dec;53(12):3696-3705. doi: 10.1161/STROKEAHA.122.037761. Epub 2022 Oct 7. Stroke. 2022. PMID: 36205142 Free PMC article.
BACKGROUND: Cerebral small vessel disease (SVD) is common in older people and causes lacunar stroke and vascular cognitive impairment. Risk factors include old age, hypertension and variants in the genes COL4A1/COL4A2 encoding collagen alpha-1(IV) and alpha-2(IV), h …
BACKGROUND: Cerebral small vessel disease (SVD) is common in older people and causes lacunar stroke and vascular cognitive impairment …
PECAM1, COL4A2, PHACTR1, and LMOD1 Gene Polymorphisms in Patients with Unstable Angina.
Kosiński K, Malinowski D, Safranow K, Dziedziejko V, Pawlik A. Kosiński K, et al. J Clin Med. 2022 Jan 13;11(2):373. doi: 10.3390/jcm11020373. J Clin Med. 2022. PMID: 35054067 Free PMC article.
Plaque formation and stability are influenced by endothelial function and vascular smooth muscle cell function. In this study, we investigated the association between polymorphisms in genes affecting endothelial and vascular smooth muscle cell (VSMC) function and th …
Plaque formation and stability are influenced by endothelial function and vascular smooth muscle cell function. In this study, we inv …
Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction.
Yang W, Ng FL, Chan K, Pu X, Poston RN, Ren M, An W, Zhang R, Wu J, Yan S, Situ H, He X, Chen Y, Tan X, Xiao Q, Tucker AT, Caulfield MJ, Ye S. Yang W, et al. PLoS Genet. 2016 Jul 7;12(7):e1006127. doi: 10.1371/journal.pgen.1006127. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27389912 Free PMC article.
Analyses of primary cultures of vascular smooth muscle cells (SMCs) and endothelial cells (ECs) from different individuals showed a difference between rs4773144 genotypes in COL4A2 and COL4A1 expression levels, being lowest in the G/G genotype, intermediate in A/G a …
Analyses of primary cultures of vascular smooth muscle cells (SMCs) and endothelial cells (ECs) from different individuals showed a d …
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
Traylor M, Persyn E, Tomppo L, Klasson S, Abedi V, Bakker MK, Torres N, Li L, Bell S, Rutten-Jacobs L, Tozer DJ, Griessenauer CJ, Zhang Y, Pedersen A, Sharma P, Jimenez-Conde J, Rundek T, Grewal RP, Lindgren A, Meschia JF, Salomaa V, Havulinna A, Kourkoulis C, Crawford K, Marini S, Mitchell BD, Kittner SJ, Rosand J, Dichgans M, Jern C, Strbian D, Fernandez-Cadenas I, Zand R, Ruigrok Y, Rost N, Lemmens R, Rothwell PM, Anderson CD, Wardlaw J, Lewis CM, Markus HS; Helsinki Stroke, Study Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group; National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network; UK DNA Lacunar Stroke Study Investigators; International Stroke Genetics Consortium. Traylor M, et al. Lancet Neurol. 2021 May;20(5):351-361. doi: 10.1016/S1474-4422(21)00031-4. Epub 2021 Mar 25. Lancet Neurol. 2021. PMID: 33773637 Free PMC article.
Mendelian randomisation analyses identified positive associations of elevated blood pressure, history of smoking, and type 2 diabetes with lacunar stroke. ...These loci provide insights into lacunar stroke pathogenesis, highlighting disruption of the vascular extrac …
Mendelian randomisation analyses identified positive associations of elevated blood pressure, history of smoking, and type 2 diabetes …
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
METHODS: We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event. ...RESULTS: One de novo missense COL4A1 mutation (c.3715 G > A, p.( …
METHODS: We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular …
Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S. Yamasaki E, et al. Proc Natl Acad Sci U S A. 2023 Jan 31;120(5):e2217327120. doi: 10.1073/pnas.2217327120. Epub 2023 Jan 24. Proc Natl Acad Sci U S A. 2023. PMID: 36693102 Free PMC article.
Gould syndrome is a rare multisystem disorder resulting from autosomal dominant mutations in the collagen-encoding genes COL4A1 and COL4A2. Human patients and Col4a1 mutant mice display brain pathology that typifies cerebral small vessel diseases (cSVDs), including white m …
Gould syndrome is a rare multisystem disorder resulting from autosomal dominant mutations in the collagen-encoding genes COL4A1 and COL4A …
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 identification of the first two Col4a2 mutant alleles.
Favor J, Gloeckner CJ, Janik D, Klempt M, Neuhäuser-Klaus A, Pretsch W, Schmahl W, Quintanilla-Fend L. Favor J, et al. Genetics. 2007 Feb;175(2):725-36. doi: 10.1534/genetics.106.064733. Epub 2006 Dec 18. Genetics. 2007. PMID: 17179069 Free PMC article.
We present the genetic, molecular, and phenotypic characterization of nine Col4a1 and three Col4a2 missense mutations recovered in random mutagenesis experiments in the mouse. Heterozygous carriers express defects in the eye, the brain, kidney function, vascular sta …
We present the genetic, molecular, and phenotypic characterization of nine Col4a1 and three Col4a2 missense mutations recovered in ra …
Functional interaction between COL4A1/COL4A2 and SMAD3 risk loci for coronary artery disease.
Turner AW, Nikpay M, Silva A, Lau P, Martinuk A, Linseman TA, Soubeyrand S, McPherson R. Turner AW, et al. Atherosclerosis. 2015 Oct;242(2):543-52. doi: 10.1016/j.atherosclerosis.2015.08.008. Epub 2015 Aug 20. Atherosclerosis. 2015. PMID: 26310581
OBJECTIVE: The COL4A1/COL4A2 region on chromosome 13q34 is a highly replicated locus for coronary artery disease (CAD). ...Our aim was to decipher TGFbeta signaling components important in the regulation of COL4A1 and COL4A2 and determine whether these components sh …
OBJECTIVE: The COL4A1/COL4A2 region on chromosome 13q34 is a highly replicated locus for coronary artery disease (CAD). ...Our aim wa …
A role for collagen type IV in cardiovascular disease?
Steffensen LB, Rasmussen LM. Steffensen LB, et al. Am J Physiol Heart Circ Physiol. 2018 Sep 1;315(3):H610-H625. doi: 10.1152/ajpheart.00070.2018. Epub 2018 Apr 20. Am J Physiol Heart Circ Physiol. 2018. PMID: 29677463 Free article. Review.
Over the past decade, studies have repeatedly found single-nucleotide polymorphisms located in the collagen ( COL) 4A1 and COL4A2 genes to be associated with cardiovascular disease (CVD), and the 13q34 locus harboring these genes is one of ~160 genome-wide significant risk …
Over the past decade, studies have repeatedly found single-nucleotide polymorphisms located in the collagen ( COL) 4A1 and COL4A2 gen …
Intracranial calcifications in childhood: Part 2.
Gonçalves FG, Caschera L, Teixeira SR, Viaene AN, Pinelli L, Mankad K, Alves CAPF, Ortiz-Gonzalez XR, Andronikou S, Vossough A. Gonçalves FG, et al. Pediatr Radiol. 2020 Sep;50(10):1448-1475. doi: 10.1007/s00247-020-04716-y. Epub 2020 Jul 8. Pediatr Radiol. 2020. PMID: 32642802 Review.
Pathological intracranial calcification can be divided into infectious, congenital, endocrine/metabolic, vascular, and neoplastic. In Part 2, the chief focus is on discussing endocrine/metabolic, vascular, and neoplastic intracranial calcification etiologies of intr …
Pathological intracranial calcification can be divided into infectious, congenital, endocrine/metabolic, vascular, and neoplastic. In …
81 results