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Novel Chimeric Peptides Based on the Enolase Peptide Antigen (CEP-1) Bearing Three Post-Translational Modifications (Citrullination, Homocitrullination and Acetylation) for Determining the Diagnosis and Severity of Rheumatoid Arthritis.
Int J Mol Sci
October 2024
Unit of Synthesis and Biomedical Applications of Peptides, Institut de Química Avançada de Catalunya, Consejo Superior de Investigaciones Científicas (IQAC-CSIC), Jordi Girona 18-26, 08034 Barcelona, Spain.
With the aim of improving the uncertainties associated with the correct diagnosis of seronegative rheumatoid arthritis (RA) and identifying those at risk of developing interstitial lung disease (ILD), we have designed new peptide antigens bearing three post-translational modifications (PTMs) (citrulline, homocitrulline and acetyl-lysine) related to RA that could complement existing tests based on anti-citrullinated peptide/protein antibodies (ACPAs). Several chimeric peptides were synthesized and comparatively tested as antigens in ELISAs with two cohorts of sera: 178 RAs and 110 healthy blood donors. The results indicated that although chimeric peptides containing all three PTMs and vimentin and enolase domains do not significantly outperform existing ACPA tests in terms of sensitivity and specificity, they show potential to complement current assays, especially when detecting antibodies in some seronegative patients.
View Article and Find Full Text PDFSymmetrical acral keratoderma associated with new variants in the filaggrin gene.
Eur J Dermatol
August 2024
Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Candidate Branch of National Clinical Research Center for Skin Diseases, Shenzhen, China.
Article Synopsis
- - Symmetrical acral keratoderma (SAK) is a rare skin condition characterized by symmetrical thick patches of skin on the hands and feet, linked to variations in the filaggrin gene (FLG).
- - A study investigated the clinical and genetic backgrounds of six SAK patients using whole-exome sequencing and other techniques.
- - Researchers discovered two new genetic variants and confirmed seven previously known variants related to FLG, reinforcing the connection between these variants and SAK.
Study of Genetic Mutations and Their Association With the Development of Atopic Dermatitis and Other Skin Diseases.
Plast Aesthet Nurs (Phila)
July 2024
Ilona Hartmane, MD, is a Dermatologist at the Department of Dermatology and Venereology, Rīga Stradinš University, Rīga, Latvia.
The purpose of this study was to identify the heterogeneity of atopic dermatitis and to identify key genetic factors. This can lead to new approaches and personalized treatment strategies. I conducted a literature review of three scientific publication platforms (i.
View Article and Find Full Text PDFIncreased loss-of-function filaggrin gene mutation prevalence in atopic dermatitis patients across northern latitudes indicates genetic fitness: A systematic review and meta-analysis.
Exp Dermatol
July 2024
Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark.
Article Synopsis
- Loss-of-function mutations in the filaggrin gene (FLG) are the strongest genetic risk factor for atopic dermatitis (AD), with a prevalence of 19.1% in AD patients compared to 5.8% in the general population.
- A systematic review and meta-analysis analyzed data from 248 studies to assess the geographic and ethnic distribution of these mutations, finding they are more common in populations living farther north of the Equator.
- Despite a significant association between AD and LoF FLG mutations in the Northern hemisphere, these mutations are less prevalent or absent in some ethnic groups, like Middle Easterners and most Africans, indicating a need for tailored AD management strategies.
Ethnic and Racial Disparities in Clinical Manifestations of Atopic Dermatitis.
Arch Intern Med Res
June 2024
Department of Translational Research, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona CA 91766.
Atopic dermatitis is a heterogenous inflammatory skin illness that may last for long time and affect people of different racial and ethnic backgrounds. The condition primarily appears in infants and young children. There are people living with atopic dermatitis in every country and every ethnic group, although the frequency of the disease varies greatly.
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