| Collagen type V alpha 2 promotes the development of gastric cancer via M2 macrophage polarization. | Collagen type V alpha 2 promotes the development of gastric cancer via M2 macrophage polarization.
Guo X, Bu X, Yuan L, Ji L. | 04/26/2023 |
| Phenotype of COL3A1/COL5A2 deletion patients. | Phenotype of COL3A1/COL5A2 deletion patients.
Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N, Loeys B. | 10/1/2022 |
| lncRNA BZRAP1-AS1 alleviates rheumatoid arthritis by regulating miR-1286/COL5A2 axis. | lncRNA BZRAP1-AS1 alleviates rheumatoid arthritis by regulating miR-1286/COL5A2 axis.
Zhu J, Tu S, Qu Q., Free PMC Article | 04/9/2022 |
| High expression of COL5A2, a member of COL5 family, indicates the poor survival and facilitates cell migration in gastric cancer. | High expression of COL5A2, a member of COL5 family, indicates the poor survival and facilitates cell migration in gastric cancer.
Tan Y, Chen Q, Xing Y, Zhang C, Pan S, An W, Xu H., Free PMC Article | 12/25/2021 |
| Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. | Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.
Urbizu A, Garrett ME, Soldano K, Drechsel O, Loth D, Marcé-Grau A, Mestres I Soler O, Poca MA, Ossowski S, Macaya A, Loth F, Labuda R, Ashley-Koch A., Free PMC Article | 10/30/2021 |
| Arterial complications in classical Ehlers-Danlos syndrome: a case series. | Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C, Brady AF, Pope FM, Vandersteen A, Baker D, Cheema H, Sobey G, Johnson D, von Klemperer K, Kazkaz H, van Dijk F, Ghali N. | 07/10/2021 |
| Foxf2 and Smad6 co-regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion. | Foxf2 and Smad6 co-regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion.
Chen G, Liu L, Sun J, Zeng L, Cai H, He Y., Free PMC Article | 04/24/2021 |
| COL5A2 as a potential clinical biomarker for gastric cancer and renal metastasis. | COL5A2 as a potential clinical biomarker for gastric cancer and renal metastasis.
Ding YL, Sun SF, Zhao GL., Free PMC Article | 02/27/2021 |
| COL5A1 is an unfavorable factor for tumorigenesis, clinicopathological outcomes, and prognosis, whereas COL5A2 is only a favorable factor for prognosis in tongue squamous cell carcinoma | Differential clinical significance of COL5A1 and COL5A2 in tongue squamous cell carcinoma.
Chen HC, Tseng YK, Shu CW, Weng TJ, Liou HH, Yen LM, Hsieh IC, Wang CC, Wu PC, Shiue YL, Fu TY, Tsai KW, Ger LP, Liu PF. | 01/11/2020 |
| Mutations affecting COL5A1 or COL5A2 are responsible for spectrum of mucocutaneous, ocular and facial features in 62 classical Ehlers-Danlos syndrome patients. | Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M. | 07/7/2018 |
| Bladder cancer patients in COL5A2 low expression group were associated with better invasiveness (P < .0001), tumor grade (P=.001), T staging (P < .0001), N staging (P = .002), and a trend of better M staging (P = .053) than those in COL5A2 high expression group. These results indicated that COL5A2 might promote the progression of Bladder Cancer cells. | The clinical significance of COL5A2 in patients with bladder cancer: A retrospective analysis of bladder cancer gene expression data.
Zeng XT, Liu XP, Liu TZ, Wang XH., Free PMC Article | 03/24/2018 |
| COL5A2(+/-) humans, although unlikely to present with frank classic Ehlers-Danlos syndrome, are likely to have fragile connective tissues with increased susceptibility to trauma and certain chronic pathologic conditions. | Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
Park AC, Phillips CL, Pfeiffer FM, Roenneburg DA, Kernien JF, Adams SM, Davidson JM, Birk DE, Greenspan DS., Free PMC Article | 06/11/2016 |
| data confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in classic Ehlers-danlos syndrome | Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M., Free PMC Article | 01/4/2014 |
| Col5a2 shows predictive potential in myocardial infarction , and in principle may represent a novel candidate marker for the identification and treatment of ischemic cardiovascular disease | Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease.
Azuaje F, Zhang L, Jeanty C, Puhl SL, Rodius S, Wagner DR., Free PMC Article | 10/19/2013 |
| study shows that over 90% of patients, which strictly satisfy all major Villefranche criteria for classic Ehlers-Danlos Syndrome (EDS)harbor a type V collagen defect which indicates that this is the major--if not only--cause of classic EDS | Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A. | 08/31/2013 |
| This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous preterm delivery. | Candidate gene analysis of spontaneous preterm delivery: new insights from re-analysis of a case-control study using case-parent triads and control-mother dyads.
Myking S, Myhre R, Gjessing HK, Morken NH, Sengpiel V, Williams SM, Ryckman KK, Magnus P, Jacobsson B., Free PMC Article | 03/10/2012 |
| Before but not after developing bronchiolitis obliterans, lung transplantation patients had antibodies to Col-V, alpha2(V). Pep5-8 to alpha1,2(V) and pep9-14 to alpha2(V)were immunodominant. | A shift in the collagen V antigenic epitope leads to T helper phenotype switch and immune response to self-antigen leading to chronic lung allograft rejection.
Tiriveedhi V, Angaswamy N, Brand D, Weber J, Gelman AG, Hachem R, Trulock EP, Meyers B, Patterson G, Mohanakumar T., Free PMC Article | 01/28/2012 |
| role of mutations in Ehlers-Danlos syndrome (Review) | Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
Malfait F, Wenstrup RJ, De Paepe A. | 04/2/2011 |
| Physical and laboratory examinations revealed that true haploinsufficiency of COL3A1, COL5A2, and MSTN, but not that of SLC40A1, leads to a clinical phenotype. | Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G., Free PMC Article | 03/5/2011 |
| The formation of [alpha1(V)](3) homotrimers was considerably favored over the heterotrimer [alpha1(V)](2)alpha2(V). | The collagen V homotrimer [alpha1(V)](3) production is unexpectedly favored over the heterotrimer [alpha1(V)](2)alpha2(V) in recombinant expression systems.
Roulet M, Välkkilä M, Chanut-Delalande H, Hämäläinen ER, Kessler E, Ala-Kokko L, Männikkö M, Bonod-Bidaud C, Ruggiero F., Free PMC Article | 10/23/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.
Velez DR, Fortunato SJ, Thorsen P, Lombardi SJ, Williams SM, Menon R., Free PMC Article | 10/8/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (8) articlesA genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
Romero R, Friel LA, Velez Edwards DR, Kusanovic JP, Hassan SS, Mazaki-Tovi S, Vaisbuch E, Kim CJ, Erez O, Chaiworapongsa T, Pearce BD, Bartlett J, Salisbury BA, Anant MK, Vovis GF, Lee MS, Gomez R, Behnke E, Oyarzun E, Tromp G, Williams SM, Menon R. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
Romero R, Velez Edwards DR, Kusanovic JP, Hassan SS, Mazaki-Tovi S, Vaisbuch E, Kim CJ, Chaiworapongsa T, Pearce BD, Friel LA, Bartlett J, Anant MK, Salisbury BA, Vovis GF, Lee MS, Gomez R, Behnke E, Oyarzun E, Tromp G, Williams SM, Menon R. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.
Ryckman KK, Morken NH, White MJ, Velez DR, Menon R, Fortunato SJ, Magnus P, Williams SM, Jacobsson B. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants.
Menon R, Pearce B, Velez DR, Merialdi M, Williams SM, Fortunato SJ, Thorsen P. Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
Videman T, Saarela J, Kaprio J, Näkki A, Levälahti E, Gill K, Peltonen L, Battié MC. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.
Velez DR, Fortunato S, Thorsen P, Lombardi SJ, Williams SM, Menon R. Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.
McCarthy JJ, Meyer J, Moliterno DJ, Newby LK, Rogers WJ, Topol EJ, GenQuest multicenter study. | 03/13/2008 |
| In the eye, COL5A1 and COL5A2 mutations manifest as abnormally thin and steep corneas with floppy eyelids. | Structural abnormalities of the cornea and lid resulting from collagen V mutations.
Segev F, Héon E, Cole WG, Wenstrup RJ, Young F, Slomovic AR, Rootman DS, Whitaker-Menezes D, Chervoneva I, Birk DE. | 01/21/2010 |