HMCN1 Antibody

1. 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. PMID: 29500156
2. A null-variant in HMCN1 (c.4162delC), has been identified in a Tunisian Jewish family with early-onset age-related macular degeneration. PMID: 25986072
3. HMCN1 mutation is associated with gastric and colorectal cancers. PMID: 24912920
4. 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 PMID: 24951538
5. The identified variants of HMCN1 are on conserved domains, particularly the two variants on calcium-binding epidermal growth factor domain. PMID: 25338956
6. 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. PMID: 24604465
7. Constructs show that EGF repeats 4 and 5 are required for hemicentin-dependent assembly and function of transgenic fibulin-1D in native locations. PMID: 22981695
8. 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. PMID: 14570714
9. None of our subjects (258 macular degeneration,AMD, cases, 72 non-AMD controls) had the Gln5345Arg variant in the HMCN1 gene. PMID: 16885922
10. 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. PMID: 17057786
11. 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. PMID: 17157600
12. 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. PMID: 17216616
13. hemicentin-1 gene appears to play a role in both age-related macular degeneration and renal pathophysiology PMID: 17591627
14. 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 PMID: 19190085
15. 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 PMID: 19229767
16. Observational study of genotype prevalence, gene-disease association, and genetic testing. (HuGE Navigator) PMID: 15467524

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HGNC: 19194

OMIM: 603075

KEGG: hsa:83872

STRING: 9606.ENSP00000271588

UniGene: Hs.58877