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    COL18A1 collagen type XVIII alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 80781, updated on 9-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain.

    Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain.
    Rinta-Jaskari MM, Naillat F, Ruotsalainen HJ, Koivunen JT, Sasaki T, Pietilä I, Elamaa HP, Kaur I, Manninen A, Vainio SJ, Pihlajaniemi TA.

    02/26/2023
    Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.

    Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
    Li S, Wang Y, Sun L, Yan W, Huang L, Zhang Z, Zhang T, Ding X., Free PMC Article

    02/12/2022
    Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.

    Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
    Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C.

    11/27/2021
    Collagen type XVIII alpha 1 chain (COL18A1) variants affect the risk of anti-tuberculosis drug-induced hepatotoxicity: A prospective study.

    Collagen type XVIII alpha 1 chain (COL18A1) variants affect the risk of anti-tuberculosis drug-induced hepatotoxicity: A prospective study.
    Cheng Y, Jiao L, Li W, Wang J, Lin Z, Lai H, Ying B., Free PMC Article

    10/30/2021
    Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy.

    Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy.
    Zhai Y, Long X, Gao J, Yao X, Wang X, Zhao Z.

    06/12/2021
    Knobloch syndrome in a patient from Chile.

    Knobloch syndrome in a patient from Chile.
    Nakousi-Capurro N, Huserman J, Castillo S, Herrera L, Romero P, Pizarro F, Quezada C, Cea F.

    06/5/2021
    Three cases of molecularly confirmed Knobloch syndrome.

    Three cases of molecularly confirmed Knobloch syndrome.
    Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, de Baere E, Cordonnier M.

    03/13/2021
    Serum Endostatin Is a Novel Marker for COPD Associated with Lower Lung Function, Exacerbation and Systemic Inflammation.

    Serum Endostatin Is a Novel Marker for COPD Associated with Lower Lung Function, Exacerbation and Systemic Inflammation.
    Wu Y, Qin J, He J, Shen Y, Wang H, Li Y, Zeng Q, Dong J, An Y, Xiong S, Feng M, Wen F., Free PMC Article

    02/13/2021
    COL18A1/ES expression is markedly increased in remodeled pulmonary vessels in PAH.

    Functional Impact of Human Genetic Variants of COL18A1/Endostatin on Pulmonary Endothelium.
    Goyanes AM, Moldobaeva A, Marimoutou M, Varela LC, Wang L, Johnston LF, Aladdin MM, Peloquin GL, Kim BS, Damarla M, Suresh K, Sato T, Kolb TM, Hassoun PM, Damico RL., Free PMC Article

    07/18/2020
    our study demonstrated that down-regulation of COL18A1 in vitro resulted in inhibition of keratinization of epithelial cells. Moreover, deletion of Col18a1 in vivo led to an inadequate keratinization phenotype of oral mucosa in the Col18-KO mice, as demonstrated by a suppressed KRT10 expression and remarkably smaller size of KHG in the granular layer of epithelial tissue in those mice.

    Type XVIII Collagen Modulates Keratohyalin Granule Formation and Keratinization in Oral Mucosa.
    Nguyen HTT, Ono M, Hara ES, Komori T, Edamatsu M, Yonezawa T, Kimura-Ono A, Maekawa K, Kuboki T, Oohashi T., Free PMC Article

    02/15/2020
    This study showed that endostatin might be a potential marker of vasculogenesis because of its significant increase after autologous cell therapy in diabetic patients with critical limb ischemia in contrast to those undergoing percutaneous transluminal angioplasty. This increase may be a sign of a protective feedback mechanism of this anti-angiogenic factor.

    Difference in Serum Endostatin Levels in Diabetic Patients with Critical Limb Ischemia Treated by Autologous Cell Therapy or Percutaneous Transluminal Angioplasty.
    Nemcova A, Jirkovska A, Dubsky M, Kolesar L, Bem R, Fejfarova V, Pysna A, Woskova V, Skibova J, Jude EB., Free PMC Article

    09/28/2019
    Combination of DESI2 and endostatin gene therapy in the mouse models significantly improves antitumor efficacy by accumulating DNA lesions, inducing apoptosis and inhibiting angiogenesis.

    Combination of DESI2 and endostatin gene therapy significantly improves antitumor efficacy by accumulating DNA lesions, inducing apoptosis and inhibiting angiogenesis.
    Yan H, Guo W, Li K, Tang M, Zhao X, Lei Y, Nie CL, Yuan Z.

    09/21/2019
    The role of COL18A1 in pathogenesis of angle closure was found by observation of COL18A1 mutations in primary angle-closure suspect-affected individuals of two additional unrelated families.

    COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
    Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E.

    04/27/2019
    Higher endostatin predicted incident myocardial infarction predominantly in women but not independently of C-reactive protein.

    The association between circulating endostatin levels and incident myocardial infarction.
    Ruge T, Carlsson AC, Jansson JH, Söderberg S, Larsson A, Ärnlöv J.

    04/13/2019
    Higher serum endostatin was associated with left ventricular dysfunction and an increased heart failure risk in two community-based cohorts of elderly patients.

    Circulating endostatin and the incidence of heart failure.
    Ruge T, Carlsson AC, Ingelsson E, Risérus U, Sundström J, Larsson A, Lind L, Ärnlöv J.

    03/16/2019
    Our study suggests lack of association between DNA polymorphisms rs2236479 of COL18A1 and rs2862296 of LOXL-4 with advanced POP [pelvic organ prolapse] in this population [Brazil].

    Collagen XVIII and LOXL-4 polymorphisms in women with and without advanced pelvic organ prolapse.
    Dos Santos RGM, Pepicelli FCA, Batista NC, de Carvalho CV, Bortolini MAT, Castro RA.

    01/19/2019
    results suggested that common polymorphisms in these two candidate genes were unlikely to play major roles in the genetic susceptibility to HM. Nevertheless, to avoid filtering real myopia genes, the role of COL11A1 and COL18A1 in the pathogenesis of myopia requires more refinement in both animal models and human genetic epidemiological studies

    Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population.
    Wu H, Jiang L, Zheng R, Luo D, Liu X, Hao F, Jiang Z, Gong B, Yang Z, Shi Y.

    10/13/2018
    Increased serum levels of endostatin were associated with loss of graft function in kidney transplant recipients.

    FGF23, NGAL, and Endostatin: the Predictors of Allograft Function in Renal Transplant Recipients.
    Gürlek Demirci B, Sezer S, Uyanık Yıldırım S, Kaynar Erdoğan M, Tutal E, Özdemir Ö, Orazbayev G, Haberal M.

    09/22/2018
    endostatin may have a role in subclinical atherosclerosis as shown in a study of a healthy Japanese population

    The Relation between Serum Endostatin Level and Carotid Atherosclerosis in Healthy Residents of Japan: Results from the Kyushu and Okinawa Population Study (KOPS).
    Kato Y, Furusyo N, Tanaka Y, Ueyama T, Yamasaki S, Murata M, Hayashi J., Free PMC Article

    07/14/2018
    a protease capable of producing endostatin from human Col XVIII, is reported

    An extracellular proteasome releases endostatin from human collagen XVIII.
    Reiss-Pistilli ML, Schuppan D, Barroso MM, Assunção-Miranda I, Farias S, Lery L, Bauer M, Juliano L, Juliano MA, Coelho-Sampaio T.

    02/17/2018
    Structural and biological functions of COL18A1, such as its requirement in the maintenance of basement membrane integrity and its emerging roles in regulating cell survival, stem or progenitor cell maintenance and differentiation and inflammation have been reported. (Review)

    Collagen XVIII in tissue homeostasis and dysregulation - Lessons learned from model organisms and human patients.
    Heljasvaara R, Aikio M, Ruotsalainen H, Pihlajaniemi T.

    01/6/2018
    Lower endostatin levels or a predominance of VEGF over endostatin are predictors of poor short-term prognosis of intracranial atherosclerotic stenosis.

    Correlation of Plasma Vascular Endothelial Growth Factor and Endostatin Levels with Symptomatic Intra- and Extracranial Atherosclerotic Stenosis in a Chinese Han Population.
    Yu F, Lu J, Li Z, Zhou X, Zeng S, Zhan Q, Yuan M, Yang Q, Xia J.

    12/16/2017
    We further show that the SAGA deubiquitinase-activated gene Multiplexin (Mp) is required in glia for proper photoreceptor axon targeting. Mutations in the human ortholog of Mp, COL18A1, have been identified in a family with a SCA7-like progressive visual disorder, suggesting that defects in the expression of this gene in SCA7 patients could play a role in the retinal degeneration that is unique to this ataxia.

    Transcriptome Profiling Identifies Multiplexin as a Target of SAGA Deubiquitinase Activity in Glia Required for Precise Axon Guidance During Drosophila Visual Development.
    Ma J, Brennan KJ, D'Aloia MR, Pascuzzi PE, Weake VM., Free PMC Article

    11/26/2017
    Two COL18A1 variants co-segregated with familial epilepsy and anterior polymicrogyria in a family.

    Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
    Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J.

    10/14/2017
    Blood endostatin wasdddddddddddddddddddddddddf significantly higher in chronic hepatitis C patients with liver fibrosis compared to those without fibrosis.

    Noninvasive estimation of liver fibrosis in biopsy-proven hepatitis C virus-infected patients: angiogenic fibrogenic link.
    Toson EA, Shiha GE, El-Mezayen HA, Samir W, El-Khininy MM.

    07/22/2017
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