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Miscellaneous disorders
Published in Giuseppe Micali, Francesco Lacarrubba, Dermatoscopy in Clinical Practice, 2018
Enzo Errichetti, Giuseppe Stinco, Anna Elisa Verzì, Francesco Lacarrubba, Salvatore Ferraro, Cecilia Santagati, Giuseppe Micali
LS is a common disease that primarily involves the anogenital area (85% of cases), but extragenital lesions (15% of cases) can also occur. It is five times more prevalent in women than men.1–2 The causes of LS are unknown, but some studies showed a significant correlation with the presence of antibodies against the extracellular matrix protein-1, thus supporting a possible autoimmune pathogenesis;3 a genetic component was also hypothesized.1–2
Vulvar lichen sclerosus
Published in Miranda A. Farage, Howard I. Maibach, The Vulva, 2017
Jill M. Krapf, Andrew T. Goldstein
Many experts consider LS to be an autoimmune disorder. This is supported by an association with certain HLA haplotypes as discussed above, as well as the disease displaying characteristics of other autoimmune conditions: higher prevalence in females, an association with other autoimmune diseases, and the presence of autoimmune antibodies (13,14). The most frequent autoimmune diseases associated with LS include autoimmune thyroiditis, alopecia areata, vitiligo, pernicious anemia, and lichen planus (2,14,15). Other conditions have also been reported in association with LS, such as diabetes, cicatricial pemphigoid, primary biliary cirrhosis, systemic lupus erythematosus, lupus panniculitis, and polymyalgia rheumatic (15). Oyama et al. (16) identified circulating IgG autoantibodies to a specific skin antigen, extracellular matrix protein 1 (ECM1), in the sera of 74% of patients with vulvar LS, compared with 7% in controls. The authors theorized that in LS, acquired autoantibodies disrupt the function of ECM1, contributing to disease pathology (16). In comparing expression patterns of ECM proteins and related growth factors in LS compared to healthy skin, Gambichler et al. (17) found that expression of ECM1 and connective tissue growth factor (CTGF) is altered in LS, with up-regulation of CTGF possibly inducing the accumulation of ECM proteins and maintaining fibrosis in chronic LS.
EFEMP1 in Direct Inguinal Hernia: correlation with TIMP3 and Regulation Toward Elastin Homoeostasis as Well as Fibroblast Mobility
Published in Journal of Investigative Surgery, 2022
Xiaohui Peng, Zhongwu Guo, Yinlong Zhang, Baichen Sun, Qi Zhang
In order to investigate the molecular mechanism of ELN abnormity in IH, a genome-wide association study observes four genes that are correlated with the risk of IH, in which EGF containing fibulin extracellular matrix protein 1 (EFEMP1) is the important gene for connective tissue maintenance as well as homoeostasis [5]. In mice model, EFEMP1 knockout mice present early aging and herniation due to the lack of fibulin-3 (which maintains the integrity of fascia connective tissues) [7]. Additionally, previous studies reveal that EFEMP1 strongly interacts with COOH-terminal end of TIMP metallopeptidase inhibitor 3 (TIMP3), which is a peptidase involved in inhibiting matrix metalloprotease (MMP), such as MMP9, and thereby affects ELN reduction and extracellular matrix (ECM) degradation [8, 9]. Therefore, we speculated that EFEMP1 might interact with TIMP3, subsequently regulate the activity of MMP9, and thereby affect ELN metabolism in IH as well. In this basic study, we compared the transversalis fascia EFEMP1, TIMP3, MMP9 and ELN expressions between direct IH patients and varicocele patients, analyzed the inner-correlation of EFEMP1, TIMP3, MMP9 and ELN, then, we constructed the EFEMP1 overexpression and knock-out L929 cells to investigate the influence of EFEMP1 dysregulation on fibroblasts migration, invasion, and validated its interaction with TIMP3/MMP9/ELN via rescue experiments.
Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee
Published in Amyloid, 2020
Merrill D. Benson, Joel N. Buxbaum, David S. Eisenberg, Giampaolo Merlini, Maria J. M. Saraiva, Yoshiki Sekijima, Jean D. Sipe, Per Westermark
EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1), also known as fibulin 3 and several other names is a 476 aa (mature protein, without a 17 aa signal peptide) extracellular matrix protein with several proposed functions. In a paper by Tasaki et al. [7] there is strong evidence that the venular gastrointestinal amyloid, originally described as portal amyloid [8] is derived from EFEMP1. This type of amyloid seems to be a common localised form in aging people (16 out of 110 patients, 85 years and older in the study by Röcken et al.) but obviously overlooked. The study by Tasaki et al. indicates that the amyloid fibril protein is a 10 kDa C-terminal EFEMP1 fragment but the exact sequence is not known. The amyloid fibril component has been added as protein AEFEMP1 (Table 1).
Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review
Published in Cancer Investigation, 2020
Cléciton Braga Tavares, Francisca das Chagas Sheyla Almeida Gomes-Braga, Emerson Brandao Sousa, José Nazareno Pearce de Oliveira Brito, Mariella de Almeida Melo, Viriato Campelo, Fidelis Manes Neto, Ricardo Marques Lopes de Araújo, Iruena Moraes Kessler, Leonardo de Moura Sousa Júnior, Luís Carlos Carvalho Filho, Yousef Qathaf Aguiar, Pedro Vitor Lopes Costa, Benedito Borges da Silva
The gene epidermal growth factor containing fibulin-like extracellular matrix protein 1 (EFEMP1) is found on chromosome 2 and encodes a member of the fibulin family of extracellular matrix glycoproteins; according to some authors, increased or decreased expression of this protein may be linked to the promotion or inhibition of certain neoplasms, such as lung, kidney, breast, prostate, nasopharynx, and hepatocellular cancer. Our review found four SNPs that are correlated with increased glioma risk, such as rs 3791679 (the most prevalent), rs 1346787, and 1346786 ers3791675 (22–25). Qin et al. showed an association between rs3791679 and increased glioma risk in the Chinese population, especially in those with family history of this neoplasm, and Jiang et al. showed an association between the GG genotype of rs3791679 and glial tumor risk (23,24).