Recombinant Human Fermitin family homolog 1 (FERMT1)

1. Kindlin-1 is mainly expressed in the cytoplasm of normal esophageal squamous epithelium and Esophageal cancer (EC) cells. Kindlin-1 expression is positively correlated with tumor cell differentiation and is higher in stage I tumors. Kindlin-1 expression is higher in non-smoker patients than in smoker patients, and in patients with a family history of EC. PMID: 28667517
2. Kindlin supports platelet GPIIB IIIA activation by interacting with paxillin. PMID: 28954813
3. we demonstrated that Kindlin-1 promotes CRC progression by recruiting SARA and Smad3 to TbetaRI and thereby activates TGF-beta/Smad3 signaling. Thus, Kindlin-1 is a novel regulator of TGF-beta/Smad3 signaling and may also be a potential target for CRC therapeutics. PMID: 27776350
4. Sequence analysis of KIND1 exons in patient 1 revealed a commonly reported homozygous nonsense mutation in exon 6 (c.811C>T;p.R271X). Both Patients 2 and 3 had novel homozygous single nucleotide deletions PMID: 27862150
5. KS patients' periodontal disease activity could be taken under control with regular follow-up. PMID: 29168364
6. these data define a novel role for Kin1 in microtubule acetylation and stability PMID: 26993041
7. keratinocytes derived from KS patients are unable to undergo electrotaxis, and this defect is restored by overexpression of wild-type kindlin-1 but not a W612A mutation that prevents kindlin-integrin binding. PMID: 27427485
8. FERMT1 activates the beta-catenin transcriptional activity to promote EMT in CC metastasis. PMID: 27641329
9. KIND1 is important not only for keratinocyte proliferation but also for the suppression of UV-induced inflammation and DNA damage. PMID: 27725201
10. We show a direct relationship between kindlin-1 abundance and UV-B induced apoptosis in keratinocytes, whereas kindlin-2 overexpression has no compensatory effect. PMID: 27798104
11. These results indicate that Kindlin-1 is essential in EGF-induced re-epithelialization in skin wound healing and provide additional rationale for the clinical application of EGF in the treatment of acute wounds. PMID: 28290610
12. KS is caused by mutations in the FERMT1 gene. Including the present, more than 60 mutations in FERMT1 have been identified since 2003. In spite of the expanding FERMT1 mutation database, there seems to be a lack of a clear genotype-phenotype correlation in KS PMID: 25865288
13. A nonsense mutation in Exon 5 of KIND1 Gene in an Iranian Family may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome. PMID: 27293055
14. we show that a certain number of KS patients may harbor FERMT1 transcriptional regulatory mutations which are not routinely detected. PMID: 25156791
15. Kindlin-1 is highly expressed in epithelial tissues derived from ectoderm and endoderm, whereas Kindlin-2 is mainly expressed in mesoderm-derived tissues. Likewise, Kindlin-1 was also found highly expressed in endoderm/ectoderm-derived tissues in embryos. PMID: 25591451
16. FERMT1 mutation causing Kindler syndrome. PMID: 26083552
17. our data suggest that Kindlin-1 could play an important role in hepatocellular carcinoma and might serve as a promising prognostic marker and potential target for hepatocellular carcinoma therapy. PMID: 25592379
18. A spectrum of FERMT1 mutations in 13 Iranian families with a diagnosis of Kindler syndrome have been ascertained. PMID: 25599393
19. We identified a novel mutation in FERMT1. These data are in agreement with the fact that the majority of KS-causing mutations in FERMT1 lead to premature termination of translation and to loss of kindlin-1 function in Kindler sysndrome PMID: 24635080
20. C-terminal LIM domains of migfilin dictate its focal adhesion localization, and these domains mediate an interaction with kindlin in vitro and in cells, demonstrating that kindlin is important for normal migfilin dynamics. PMID: 24165133
21. Data uncover a role for kindlin-1 in the regulation of integrin trafficking and adhesion turnover. PMID: 23776470
22. Short interfering RNA-mediated depletion of Kindlin-1 increases formation of abnormal mitotic spindles which is dependent on the ability of Kindlin-1 to bind integrins and Polo-like kinase 1-mediated Kindlin-1 phosphorylation. PMID: 23804033
23. Individuals with Kindler syndrome (KS) have loss-of-function mutations in the FERMT1 gene PMID: 23278235
24. Whereas both Integrin-linked kinase (Ilk) and Kindlin-1 cooperate with Integrin alpha3beta1 to resist trauma-induced epidermal defects, Kindlin-1 and Ilk, surprisingly, do not act synergistically but in parallel. PMID: 23549420
25. Kindlin-1 expression is involved in the progression of pancreatic cancer via enhancement of cell migration and invasion. PMID: 23440354
26. Kindlin-1 and Kindlin-2 have opposite roles in lung cancers PMID: 23209705
27. the results of this study indicate that FERMT1 is expressed specifically in colon carcinoma cells, and has roles in matrix invasion and cell growth PMID: 23267142
28. Direct sequencing of the FERMT1 gene revealed a homozygous insertion of cytosine at position 676 (c.676insC) in exon 5 in seven patients. PMID: 22220914
29. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications in Kindler syndrome ( FERMT1 ) PMID: 21936020
30. Kindlin-1 expression in breast tumors is associated with lung metastasis and lung metastasis-free survival through regulation of TGF-beta signaling. Kindlin-1-silencing prevented tumor growth and lung metastasis in mice. PMID: 21832234
31. FERMT1 is a novel prognostic factor for colon carcinoma. PMID: 21220475
32. Describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phenotype correlation in this disorder. PMID: 21336475
33. Induction of phenotype modifying cytokines by FERMT1 mutations PMID: 21309038
34. The phenotype of kindlin-1-deficient cells can be modulated by regulating kindlin-2 gene expression and vice versa. PMID: 21356350
35. In summary, we have described a recurrent splice-site deletion mutation in KIND1 in Kindler syndrome. PMID: 21146372
36. A novel mutation in the FERMT1 gene in a Spanish family with Kindler's syndrome is reported. PMID: 20028441
37. cellular functions and possible clinical relevance of kindlin-1 [REVIEW] PMID: 19854292
38. Null mutations in FERMT1 result in skin blistering from birth and early childhood progressive poikiloderma, mucosal fragility, and increased risk of cancer PMID: 19945623
39. kindlerin has a role in mediating cell processes that depend on integrins PMID: 14634021
40. loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity PMID: 14962093
41. Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton to the extracellular matrix and as such is proposed to have both structural and cell-signalling functions. Review. PMID: 15927810
42. Mutated at intron 13 in Kindler syndrome. PMID: 16051467
43. The abundance of repetitive elements in intronic regions of KIND1, together with the identification of a large deletion, suggests that genomic rearrangements could be responsible for a significant proportion of Kindler syndrome cases PMID: 16675959
44. Kindlin-1 has roles in regulation of polarity, proliferation, and motility of epidermal keratinocytes PMID: 17012746
45. Kindlin-1 links the actin cytoskeleton to the extracellular matrix and is supposed to have cell-signaling functions owing to different functional domains. PMID: 17178989
46. analysis of KIND1 gene mutations in Kindler syndrome [case reports] PMID: 17460733
47. The KIND1 mutation c.67insC represents the most common recurrent pathogenic gene mutation in patients with KS. PMID: 17916195
48. Two patients with Kindler Syndrome have mutations in KIND-1. In patient 1, there was a duplication of cytosine at position 676 in exon 5 of kindlin-1 mRNA. In patient 2, a novel mutation of exon 3 of KIND1 gene c.170C>A. PMID: 17989907
49. a splice site mutation in the first position of intron 13 of the FERMT1 gene caused skipping of exon 13. PMID: 18652585
50. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. PMID: 18835760

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HGNC: 15889

OMIM: 173650

KEGG: hsa:55612

STRING: 9606.ENSP00000217289

UniGene: Hs.472054