Human gene and disease associations for clinical‐genomics and precision medicine research

Clinical and Translational Medicine, Год журнала: 2020, Номер 10(1), С. 297 - 318

Опубликована: Март 1, 2020

Abstract We are entering the era of personalized medicine in which an individual's genetic makeup will eventually determine how a doctor can tailor his or her therapy. Therefore, it is becoming critical to understand basis common diseases, for example, genes predispose and rare variants contribute so on. Our study focuses on helping researchers, medical practitioners, pharmacists having broad view that may be implicated likelihood developing certain diseases. focus here create comprehensive database with mobile access all available, authentic actionable genes, SNPs, classified diseases drugs collected from different clinical genomics databases worldwide, including Ensembl, GenCode, ClinVar, GeneCards, DISEASES, HGMD, OMIM, GTR, CNVD, Novoseek, Swiss‐Prot, LncRNADisease, Orphanet, GWAS Catalog, SwissVar, COSMIC, WHO, FDA. present new cutting‐edge gene‐SNP‐disease‐drug smart phone application, integrating information about related germline somatic mutations, drugs. Its includes over 59 000 protein‐coding noncoding genes; 67 SNPs million mutations reported 19 located 1000 regions, published 3000 articles 415 journals available at PUBMED; 80 ICDs; 123 NDCs; 100 gene‐SNP‐disease associations. application provide insights into human complex assimilating genomic phenotypic data availability gene‐based designer drugs, precise targeting molecular fingerprints tumor, appropriate drug therapy, predicting individual susceptibility disease, diagnosis, treatment illnesses few many transformations expected decade come.

Язык: Английский

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Mechanisms of melanocyte death in vitiligo

Medicinal Research Reviews, Год журнала: 2020, Номер 41(2), С. 1138 - 1166

Опубликована: Ноя. 17, 2020

Abstract Vitiligo is an autoimmune depigment disease results from extensive melanocytes destruction. The destruction of melanocyte thought to be multifactorial causation. Genome‐wide associated studies have identified single‐nucleotide polymorphisms in a panel susceptible loci as risk factors death. But vitiligo onset can't solely attributed susceptive genetic background. Oxidative stress triggered by elevated levels reactive oxygen species accounts for melanocytic molecular and organelle dysfunction, minority demise, melanocyte‐specific antigens exposure. Of note, the self‐responsive immune function directly contributes bulk deaths vitiligo. aberrantly heightened innate immunity, type‐1‐skewed T helper, incompetent regulatory cells tip balance toward autoreaction CD8 + cytotoxic lymphocytes finally execute killing melanocytes, possibly alarmed resident memory cells. In addition well‐established apoptosis necrosis, we discuss several death modalities like oxeiptosis, ferroptosis, necroptosis that are probably employed This review focuses on various mechanisms pathogenesis demonstrate panorama that. We hope provide new insights into treatment strategies review.

Язык: Английский

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Accelerating skin regeneration and wound healing by controlled ROS from photodynamic treatment

Inflammation and Regeneration, Год журнала: 2022, Номер 42(1)

Опубликована: Окт. 4, 2022

Abstract Cellular metabolisms produce reactive oxygen species (ROS) which are essential for cellular signaling pathways and physiological functions. Nevertheless, ROS act as “double-edged swords” that have an unstable redox balance between production removal. A little raise of results in cell proliferation enhancement, survival, soft immune responses, while a high level could lead to damage consequently protein, nucleic acid, lipid damages finally death. play important role various pathological circumstances. On the contrary, can show selective toxicity is used against cancer cells pathogens. Photodynamic therapy (PDT) based on three components including photosensitizer (PS), oxygen, light. Upon excitation PS at specific wavelength, PDT process begins leads generation. produced during induce two different pathways. If produces control low ROS, it differentiation. However, excess by causes photo main mechanism treatment. This review summarizes functions living systems describes controllable special focus current ROS-generating therapeutic protocols regeneration wound healing.

Язык: Английский

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Vitiligo: Mechanistic insights lead to novel treatments

Journal of Allergy and Clinical Immunology, Год журнала: 2017, Номер 140(3), С. 654 - 662

Опубликована: Авг. 1, 2017

Язык: Английский

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The enigma and challenges of vitiligo pathophysiology and treatment

Pigment Cell & Melanoma Research, Год журнала: 2020, Номер 33(6), С. 778 - 787

Опубликована: Март 21, 2020

Vitiligo is the most common acquired pigmentary disorder, which afflicts 0.5%-1% of world population, and characterized by depigmented skin patches resulting from melanocyte loss. has a complex etiology varies in its manifestations, progression, response to treatment. It presents as an autoimmune disease, evidenced circulating melanocyte-specific antibodies, association with other diseases. However, autoimmunity may be secondary high oxidative stress vitiligo intrinsic defects melanocytes their microenvironment, contribute aberrant response, neo-antigenicity, susceptibility immune attack apoptosis. There also genetic predisposition vitiligo, sensitizes environmental agents, such phenolic compounds. Currently, there are different treatment modalities for re-pigmenting skin. when repigmentation achieved, major challenge maintaining pigmentation, lost 40% cases. In this review, we present overview clinical aspects pathophysiology, strategies. Based on lessons biology human melanocytes, our perspective how can achieved sustained.

Язык: Английский

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Resident Memory T Cells in Autoimmune Skin Diseases

Frontiers in Immunology, Год журнала: 2021, Номер 12

Опубликована: Май 3, 2021

Tissue resident memory T cells (TRM) are a critical component of the immune system, providing body with an immediate and highly specific response against pathogens re-infecting peripheral tissues. More recently, however, it has been demonstrated that TRM also form during autoimmunity. mediated autoimmune diseases particularly destructive, because unlike foreign antigens, self-antigens never cleared, continuously activating self-reactive cells. In this article, we will focus on how TRMs mediate disease in skin conditions, specifically vitiligo, psoriasis, cutaneous lupus erythematosus, alopecia areata frontal fibrosing alopecia.

Язык: Английский

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A New Insight into the Potential Role of Tryptophan-Derived AhR Ligands in Skin Physiological and Pathological Processes

International Journal of Molecular Sciences, Год журнала: 2021, Номер 22(3), С. 1104 - 1104

Опубликована: Янв. 22, 2021

The aryl hydrocarbon receptor (AhR) plays a crucial role in environmental responses and xenobiotic metabolism, as it controls the transcription profiles of several genes ligand-specific cell-type-specific manner. Various barrier tissues, including skin, display expression AhR. Recent studies revealed multiple roles AhR skin physiology disease, melanogenesis, inflammation cancer. Tryptophan metabolites are distinguished among groups natural synthetic ligands, these include kynurenine, kynurenic acid 6-formylindolo[3,2-b]carbazole (FICZ). derivatives can affect regulate variety signaling pathways. Thus, interest how substances influence physiological pathological processes is expanding rapidly. widespread presence potential continuous exposure to their biological effects indicate important its ligands prevention, pathogenesis progression diseases. In this review, we summarize current knowledge physiology. Moreover, discuss processes, inflammatory diseases, pigmentation disorders Finally, impact FICZ, acid, kynurenine on considered. However, mechanisms regulates function require further investigation.

Язык: Английский

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Clinical Features, Immunopathogenesis, and Therapeutic Strategies in Vitiligo

Clinical Reviews in Allergy & Immunology, Год журнала: 2021, Номер 61(3), С. 299 - 323

Опубликована: Июль 20, 2021

Язык: Английский

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Janus kinase inhibitors in dermatology: Part II. A comprehensive review

Journal of the American Academy of Dermatology, Год журнала: 2021, Номер 86(2), С. 414 - 422

Опубликована: Июль 3, 2021

Язык: Английский

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Patho-immunological mechanisms of vitiligo: the role of the innate and adaptive immunities and environmental stress factors

Clinical & Experimental Immunology, Год журнала: 2021, Номер 207(1), С. 27 - 43

Опубликована: Дек. 5, 2021

Abstract Epidermal melanocyte loss in vitiligo, triggered by stresses ranging from trauma to emotional stress, chemical exposure or metabolite imbalance, the unknown, can stimulate oxidative stress pigment cells, which secrete damage-associated molecular patterns that then initiate innate immune responses. Antigen presentation melanocytes leads stimulation of autoreactive T-cell responses, with further targeting cells. Studies show a pathogenic basis for cellular responses and adaptive immunity vitiligo. Improved understanding aetiological mechanisms vitiligo has already resulted successful use Jak inhibitors In this review, we outline current pathological locate loci therapeutic attack might be directed.

Язык: Английский

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