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    HMCN1 hemicentin 1 [ Homo sapiens (human) ]

    Gene ID: 83872, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    HOXD9 aggravates the development of cervical cancer by transcriptionally activating HMCN1.

    HOXD9 aggravates the development of cervical cancer by transcriptionally activating HMCN1.
    Wen D, Wang L, Tan S, Tang R, Xie W, Liu S, Tang C, He Y.

    12/24/2022
    Comprehensive Analysis of HMCN1 Somatic Mutation in Clear Cell Renal Cell Carcinoma.

    Comprehensive Analysis of HMCN1 Somatic Mutation in Clear Cell Renal Cell Carcinoma.
    Gong Z, Wu X, Guo Q, Du H, Zhang F, Kong Y., Free PMC Article

    08/6/2022
    the findings of the present study suggest that targeting the Cancerassociated fibroblasts genes, SRPX and HMCN1, can inhibit ovarian cancer migration and invasion.

    SRPX and HMCN1 regulate cancer‑associated fibroblasts to promote the invasiveness of ovarian carcinoma.
    Liu CL, Pan HW, Torng PL, Fan MH, Mao TL.

    04/4/2020
    Identify HMCN1 as a new molecule involved in the dynamic changes of podocyte foot processes in glomerular disease.

    Hemicentin 1 influences podocyte dynamic changes in glomerular diseases.
    Toffoli B, Zennaro C, Winkler C, Giordano Attianese GMP, Bernardi S, Carraro M, Gilardi F, Desvergne B.

    09/14/2019
    In the group that combined individuals affected by isolated cleft lip and palate, tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries, we found an association with rs622260 but not with the rs10798049 marker. We determined that allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of these conditions.

    Rethinking isolated cleft lip and palate as a syndrome.
    Koruyucu M, Kasimoğlu Y, Seymen F, Bayram M, Patir A, Ergöz N, Tuna EB, Gencay K, Deeley K, Bussaneli D, Modesto A, Vieira AR.

    12/22/2018
    A null-variant in HMCN1 (c.4162delC), has been identified in a Tunisian Jewish family with early-onset age-related macular degeneration.

    Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.
    Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E.

    03/19/2016
    HMCN1 mutation is associated with gastric and colorectal cancers.

    HMCN1, a cell polarity-related gene, is somatically mutated in gastric and colorectal cancers.
    Lee SH, Je EM, Yoo NJ, Lee SH.

    03/12/2016
    Fibulin-6, a fibroblast-released extracellular matrix protein, may play an important role during myocardial remodelling by imparting an effect on cardiac fibroblasts migration in close and complementary interplay with TGF-beta1 signalling

    Expression of fibulin-6 in failing hearts and its role for cardiac fibroblast migration.
    Chowdhury A, Herzog C, Hasselbach L, Khouzani HL, Zhang J, Hammerschmidt M, Rudat C, Kispert A, Gaestel M, Menon MB, Tudorache I, Hilfiker-Kleiner D, Mühlfeld C, Schmitto JD, Müller M, Theilmeier G.

    06/20/2015
    The identified variants of HMCN1 are on conserved domains, particularly the two variants on calcium-binding epidermal growth factor domain.

    Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst.
    Omer WH, Narita A, Hosomichi K, Mitsunaga S, Hayashi Y, Yamashita A, Krasniqi A, Iwasaki Y, Kimura M, Inoue I., Free PMC Article

    02/28/2015
    this is the first association study based on a candidate gene approach to confirm that a HMCN1 polymorphism (rs2891230) is associated with postpartum depression diagnosis. heterozygosity (GA) for this SNP was associated with an increased risk of PPD.

    HMNC1 gene polymorphism associated with postpartum depression.
    Alvim-Soares AM, Miranda DM, Campos SB, Figueira P, Correa H, Romano-Silva MA.

    10/4/2014
    Constructs show that EGF repeats 4 and 5 are required for hemicentin-dependent assembly and function of transgenic fibulin-1D in native locations.

    Distinct regions within fibulin-1D modulate interactions with hemicentin.
    Muriel JM, Dong C, Vogel BE.

    01/26/2013
    Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)

    Integrative predictive model of coronary artery calcification in atherosclerosis.
    McGeachie M, Ramoni RL, Mychaleckyj JC, Furie KL, Dreyfuss JM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich S, Sale M, Ramoni MF., Free PMC Article

    04/7/2010
    down-regulated in salivary gland epithelial cell from Sjogren's syndrome patients following in vitro treatment with anti-Ro/SSA auto-antibodies; associated with increase in anoikis cell death

    Fibulin-6 expression and anoikis in human salivary gland epithelial cells: implications in Sjogren's syndrome.
    Sisto M, D'Amore M, Lofrumento DD, Scagliusi P, D'Amore S, Mitolo V, Lisi S.

    01/21/2010
    Dysregulation of fibulin expression by anti-Ro/SSA antibodies may contribute to disorganization of the extracellular environment and thus cause injury to the salivary gland architecture and functionality observed in Sjogren syndrome

    Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland.
    Lisi S, D'Amore M, Scagliusi P, Mitolo V, Sisto M.

    01/21/2010
    Observational study of genotype prevalence, gene-disease association, and genetic testing. (HuGE Navigator)

    A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.
    McKay GJ, Clarke S, Hughes A, McConnell V, Schultz DW, Klein ML, Silvestri G, Simpson DA.

    03/13/2008
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (7) articles

    Examination of association with candidate genes for diabetic nephropathy in a Mexican American population.
    Kim S, Abboud HE, Pahl MV, Tayek J, Snyder S, Tamkin J, Alcorn H Jr, Ipp E, Nast CC, Elston RC, Iyengar SK, Adler SG.

    Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.
    Thompson CL, Klein BE, Klein R, Xu Z, Capriotti J, Joshi T, Leontiev D, Lee KE, Elston RC, Iyengar SK, Thompson CL, Klein BE, Klein R, Xu Z, Capriotti J, Joshi T, Leontiev D, Lee KE, Elston RC, Iyengar SK.

    Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
    Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH, Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH.

    Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration.
    Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T, Tamai M, Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T, Tamai M.

    Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration.
    Bojanowski CM, Tuo J, Chew EY, Csaky KG, Chan CC, Bojanowski CM, Tuo J, Chew EY, Csaky KG, Chan CC.

    Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
    Seitsonen S, Lemmelä S, Holopainen J, Tommila P, Ranta P, Kotamies A, Moilanen J, Palosaari T, Kaarniranta K, Meri S, Immonen I, Järvelä I, Seitsonen S, Lemmelä S, Holopainen J, Tommila P, Ranta P, Kotamies A, Moilanen J, Palosaari T, Kaarniranta K, Meri S, Immonen I, Järvelä I.

    Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1.
    Hayashi M, Merriam JE, Klaver CC, Zernant J, Bergen AA, Smith RT, Chang S, Merriam JC, Allikmets R.

    03/13/2008
    hemicentin-1 gene appears to play a role in both age-related macular degeneration and renal pathophysiology

    Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.
    Thompson CL, Klein BE, Klein R, Xu Z, Capriotti J, Joshi T, Leontiev D, Lee KE, Elston RC, Iyengar SK, Thompson CL, Klein BE, Klein R, Xu Z, Capriotti J, Joshi T, Leontiev D, Lee KE, Elston RC, Iyengar SK.

    01/21/2010
    We mapped the ARMD1 gene. Identification of the genes involved in AMD will lead to a better understanding of this disease at the molecular level.

    Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
    Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS.

    01/21/2010
    The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD (age-related macular degeneration) cases in the Japanese population.

    Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration.
    Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T, Tamai M, Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T, Tamai M.

    01/21/2010
    Data shows that low-frequency variants encoding possible functional amino acid polymorphisms in the HMCN1 gene may not contribute substantially to disease, but HMCN1 mutations may still confer disease susceptibility in a small subset of patients.

    Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
    Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH, Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH.

    01/21/2010
    None of our subjects (258 macular degeneration,AMD, cases, 72 non-AMD controls) had the Gln5345Arg variant in the HMCN1 gene.

    Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
    Seitsonen S, Lemmelä S, Holopainen J, Tommila P, Ranta P, Kotamies A, Moilanen J, Palosaari T, Kaarniranta K, Meri S, Immonen I, Järvelä I, Seitsonen S, Lemmelä S, Holopainen J, Tommila P, Ranta P, Kotamies A, Moilanen J, Palosaari T, Kaarniranta K, Meri S, Immonen I, Järvelä I.

    01/21/2010
    We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and age-related macular degeneration development in the currently available cases and controls.

    Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration.
    Bojanowski CM, Tuo J, Chew EY, Csaky KG, Chan CC, Bojanowski CM, Tuo J, Chew EY, Csaky KG, Chan CC., Free PMC Articles: PMC1447557, PMC1447557

    01/21/2010
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