A novel frameshift mutation in the &lt;em&gt;FERMT1&lt;/em&gt; gene in a Chinese patient with Kindler syndrome

Li, Meng; Yang, Xiaoqin; Wu, Yuhao; Zhao, Zijun; Yang, Lianjuan; Li, Ming; Wang, Xiuli; Zhang, Guolong

doi:10.3892/etm.2020.9233

Cited by 3 publications

(2 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutations in FERMT1 (also known as KIND1), encoding the focal adhesion protein kindlin-1, cause Kindler syndrome (KS). KS patients are predominantly offspring of consanguineous couples (12) but there are exceptions (46). The major manifestation of KS is skin disorder such as atrophy, blistering, poikiloderma, photosensitivity (12,13,47).…”

Section: Fermt1 Deficiencymentioning

confidence: 99%

Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity

et al. 2021

View full text Add to dashboard Cite

With the expansion of our knowledge on inborn errors of immunity (IEI), it gradually becomes clear that immune dysregulation plays an important part. In some cases, autoimmunity, hyperinflammation and lymphoproliferation are far more serious than infections. Thus, immune dysregulation has become significant in disease monitoring and treatment. In recent years, the wide application of whole-exome sequencing/whole-genome sequencing has tremendously promoted the discovery and further studies of new IEI. The number of discovered IEI is growing rapidly, followed by numerous studies of their pathogenesis and therapy. In this review, we focus on novel discovered primary immune dysregulation diseases, including deficiency of SLC7A7, CD122, DEF6, FERMT1, TGFB1, RIPK1, CD137, TET2 and SOCS1. We discuss their genetic mutation, symptoms and current therapeutic methods, and point out the gaps in this field.

show abstract

Section: Fermt1 Deficiencymentioning

confidence: 99%

Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Previous studies have demonstrated that the HFD consumption, due to a lack of adequate dietary ber, causes intestinal microbial community disorders, which is a underlying reason for disturbed physiological processes and metabolic diseases, including obesity [5], hyperlipidemia and other symptoms [3,6]. Thus, how to prevent HFD-induced obesity and its complications in modern society has attracted increasing attention [7].…”

Section: Introductionmentioning

confidence: 99%

Medium-chain inulin alleviates the obesity and improves systemic health in diet-induced obese mice via mediating the gut microbiome and metabolome

Wang,

Kim,

Cui

et al. 2023

Preprint

View full text Add to dashboard Cite

Background Inulin is well known as a natural dietary fiber with multiple beneficial effects on promoting the physiological and intestinal health of hosts. However, it is unclear whether medium-chain inulin can inhibit high-fat diet (HFD)-induced obesity in mice and its mechanism(s) that underlie such effects. In this study, we tested the hypothesis that medium-chain inulin consumption can counteract the obesity in HFD-fed mice by selectively modulating the gut microbiota, metabolome, and metabolic pathways. Results The results shown that the medium-chain inulin is a polymer primarily consisting of fructose linked 2,1 glycosidic bonds with an average degree polymerization of 12. Among them, molecules of different chain lengths form spherical or cross-linked network spatial structures by folding and coiling. Medium-chain inulin supplementation (3% or 5%) reduced lipid deposition in tissues, ameliorated intestinal health, and thus prevented diet-induced obesity in mice. Furthermore, dietary inclusion of inulin shaped a significantly different microbial community by specially increasing the abundances of Bacteroidota, Faecalibaculum, Bifidobacterium, Parasutterella, Lactobacillaceae, Bacteroides, Clostridium_sensu_stricto_1, and Akkermansia in inulin-supplemented groups compared with the HFD group. Additionally, dietary inulin supplementation enhanced the concentrations of nicotinamide, indole-3-acetate, 5-hydroxytryptophan, maltose, taurocholic acid, aldosterone 5α-dihydrotestosterone, and corticosterone in gut content of HFD-fed mice, and thus modulated certain energy utilization-related metabolic pathways. Especially, those significantly modulated microbes and metabolites by inulin supplementation positively correlated with ameliorated healthy parameters. Therefore, medium-chain inulin inhibits HFD-induced obesity by specifically modulating key gut microbes and metabolites, thereby affecting the inulin-gut microbiota/metabolome-tissue (phenotype) axis. Conclusions Taken together, dietary inulin supplementation improved the gut barrier and physiological health, while alleviated HFD-induced obesity and complications of mice, including fat deposition and metabolic disorders, etc. This beneficial effect was attributed to the fact that feeding medium-chain inulin could specifically promote certain key beneficial gut bacteria and metabolites, and thus arouse energy utilization-related metabolic pathways alteration. Thus, medium-chain inulin can be employed as a potential functional food or therapeutic agent to prevent or treat diet-induced obesity in the host.

show abstract

Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population

Shehata,

Shaik,

Irfan Thalib

2024

Cureus

View full text Add to dashboard Cite

Epidermolysis bullosa (EB) is a genetic skin disorder characterized by skin fragility and blister formation. This review explores the genetic basis and management of EB in the Saudi population, emphasizing the need for genetic insights to enable precise diagnosis, targeted treatments, and effective counseling. Diagnosis in Saudi Arabia relies on clinical assessments and genetic testing. Prenatal diagnosis may be suggested in families with children affected by EB, but it is not widely used in the Middle East. Current management focuses on symptom relief, while emerging experimental approaches such as gene and stem cell therapies are under extensive research. Challenges in EB research include developing effective targeted therapies and understanding the variability in how genotypes manifest phenotypically. Continuous research is crucial to enhance diagnostic methods, therapeutic approaches, and overall patient care.

show abstract

A novel frameshift mutation in the <em>FERMT1</em> gene in a Chinese patient with Kindler syndrome

Cited by 3 publications

References 40 publications

Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity

Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity

Medium-chain inulin alleviates the obesity and improves systemic health in diet-induced obese mice via mediating the gut microbiome and metabolome

Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population

Contact Info

Product

Resources

About