Single-gene skin disease research: past, present and prospect

2020 ◽  
Keyword(s):  
Skin Disease ◽  
Single Gene ◽  
Disease Research

scholarly journals The Study of Cryosurgical Micro-instrument on Biomedicine

2021 ◽  
Vol 233 ◽  
pp. 02005
Author(s):  
Tao Song ◽  
Baolin Liu ◽  
Linhan Jiao ◽  
Wanzhu Zhang
Keyword(s):  
Skin Disease ◽  
Surgical Instruments ◽  
Disease Treatment ◽  
Advantages And Disadvantages ◽  
Disease Research ◽  
New Type ◽  
And Performance ◽  
Development Course ◽  
Application Scope ◽  
Pathological Tissues

This paper introduces the development course of cryosurgery, mechanism, advantages and disadvantages, application scope, the analysis of the current world advanced the development of cryogenic surgical instruments and its principle and performance, found that at present, the development of the cryoablation equipment mainly for the treatment of diseases such as cancer such heavy research, thus ignore the crowd larger quantity of the treatment of skin disease research. cryopen are introduced in this paper to solve small pathological tissues such as skin disease treatment. we study a new type of freezing and melting equipment, named cryopen. at the same time, the simulation of treating abnormal skin is completed effectively. The results show that cryopen is very good for the treatment of abnormal skin. The future development of small cryoablation equipment is also put forward.

scholarly journals Aberrations in Lipid Expression and Metabolism in Psoriasis

2021 ◽  
Vol 22 (12) ◽  
pp. 6561
Author(s):  
Julia Nowowiejska ◽  
Anna Baran ◽  
Iwona Flisiak
Keyword(s):  
Adipose Tissue ◽  
Liver Disease ◽  
General Population ◽  
Economic Burden ◽  
Skin Disease ◽  
Fatty Liver Disease ◽  
Nonalcoholic Fatty Liver ◽  
Disease Research ◽  
Cardiometabolic Disorders ◽  
Common Skin

Psoriasis (PSO) is a common skin disease that affects about 1%–3% of the general population. It is a great medical, social and economic burden since PSO is associated with many comorbidities, of which the most common are cardiometabolic disorders. Psoriatic patients suffer more frequently from obesity, dyslipidemia, atherosclerosis, and nonalcoholic fatty liver disease. Research shows that lipid expression and metabolism disorders are present more often in such patients. This review focuses on a variety of aberrations in lipids in the skin, blood, and adipose tissue in psoriatic patients and their multifactorial impact on the pathogenesis of psoriasis.

scholarly journals AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

2020 ◽  
Vol 12 (544) ◽  
pp. eaau9113 ◽  
Author(s):  
Johannes Birgmeier ◽  
Maximilian Haeussler ◽  
Cole A. Deisseroth ◽  
Ethan H. Steinberg ◽  
Karthik A. Jagadeesh ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Retrospective Cohort ◽  
Developmental Disorders ◽  
Single Gene ◽  
Rapid Diagnosis ◽  
Causative Gene ◽  
Mendelian Disorders ◽  
Disease Research ◽  
Primary Literature ◽  
The Right

The diagnosis of Mendelian disorders requires labor-intensive literature research. Trained clinicians can spend hours looking for the right publication(s) supporting a single gene that best explains a patient’s disease. AMELIE (Automatic Mendelian Literature Evaluation) greatly accelerates this process. AMELIE parses all 29 million PubMed abstracts and downloads and further parses hundreds of thousands of full-text articles in search of information supporting the causality and associated phenotypes of most published genetic variants. AMELIE then prioritizes patient candidate variants for their likelihood of explaining any patient’s given set of phenotypes. Diagnosis of singleton patients (without relatives’ exomes) is the most time-consuming scenario, and AMELIE ranked the causative gene at the very top for 66% of 215 diagnosed singleton Mendelian patients from the Deciphering Developmental Disorders project. Evaluating only the top 11 AMELIE-scored genes of 127 (median) candidate genes per patient resulted in a rapid diagnosis in more than 90% of cases. AMELIE-based evaluation of all cases was 3 to 19 times more efficient than hand-curated database–based approaches. We replicated these results on a retrospective cohort of clinical cases from Stanford Children’s Health and the Manton Center for Orphan Disease Research. An analysis web portal with our most recent update, programmatic interface, and code is available at AMELIE.stanford.edu.

Genetic Studies in Skin Disease Research: Flare-up of Psoriasis Genes

1997 ◽  
Vol 2 (2) ◽  
pp. 120-122
Author(s):  
Sherri J. Bale
Keyword(s):  
Genetic Heterogeneity ◽  
Skin Disease ◽  
Chromosomal Location ◽  
Susceptibility Loci ◽  
Genetic Studies ◽  
Disease Research ◽  
Genetic Linkages ◽  
Large Families ◽  
Statistical Approaches

Background: The chromosomal location of several genes for familial psoriasis has recently been reported. Objective: This article reviews these recent reports of genetic linkages in psoriasis. Methods: An explanation and discussion of the type of family material studied and the statistical approaches used are presented. Results: Linkage of psoriasis-susceptibility loci have been reported on chromosomes 17, 4, and 6. Conclusion: Due to genetic heterogeneity and decreased penetrance, confirmation of reported genetic linkages is likely to be difficult. The use of single, large families in which many members are affected with psoriasis may yield the most information.

scholarly journals AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

2019 ◽  
Author(s):  
Johannes Birgmeier ◽  
Maximilian Haeussler ◽  
Cole A. Deisseroth ◽  
Ethan H. Steinberg ◽  
Karthik A. Jagadeesh ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Single Gene ◽  
Rapid Diagnosis ◽  
Web Portal ◽  
Causative Gene ◽  
Mendelian Disorders ◽  
Disease Research ◽  
Primary Literature ◽  
The Right ◽  
The Web

AbstractThe diagnosis of Mendelian disorders requires labor-intensive literature research. Trained clinicians can spend hours looking for the right publication/s supporting a single gene that best explains a patient’s disease. AMELIE (Automatic Mendelian Literature Evaluation) greatly accelerates this process. AMELIE parses all 29 million PubMed abstracts, downloads and further parses hundreds of thousands of full text articles in search of information supporting the causality and associated phenotypes of any published genetic variant. AMELIE then prioritizes patient candidate variants for their likelihood of explaining any patient’s given set of phenotypes. Diagnosis of singleton patients (without relatives’ exomes) is the most time-consuming scenario. AMELIE ranked the causative gene at the very top in 2/3 of 215 diagnosed singleton Mendelian patients. Evaluating only the top 11 AMELIE scored genes of 127 (median) candidate genes per patient results in rapid diagnosis for 90+% of cases. AMELIE-based evaluation of all cases is 3-19x more efficient than hand-curated database-based approaches. We replicate these results on a cohort of clinical cases from Stanford Children’s Health and the Manton Center for Orphan Disease Research. An analysis web portal with our most recent update, programmatic interface and code will be available at AMELIE.stanford.edu. A pilot run of the web portal has already served many thousands of job submissions from dozens of countries.

Paracrystalline Aggregates of Psoriatic Keratin and Their Relation to Normal Keratin Structure

1985 ◽  
Vol 43 ◽  
pp. 680-681
Author(s):  
S. Trachtenberg ◽  
P.M. Steinert ◽  
B.L. Trus ◽  
A.C. Steven
Keyword(s):  
Cell Death ◽  
Stratum Corneum ◽  
Intermediate Filament ◽  
Skin Disease ◽  
Amorphous Matrix ◽  
Terminal Differentiation ◽  
Proteolytic Degradation ◽  
Horny Layer ◽  
Chronic Skin ◽  
Chronic Skin Disease

During terminal differentiation of vertebrate epidermis, certain specific keratin intermediate filament (KIF) proteins are produced. Keratinization of the epidermis involves cell death and disruption of the cytoplasm, leaving a network of KIF embedded in an amorphous matrix which forms the outer horny layer known as the stratum corneum. Eventually these cells are shed (desquamation). Normally, the processes of differentiation, keratinization, and desquamation are regulated in an orderly manner. In psoriasis, a chronic skin disease, a hyperkeratotic stratum corneum is produced, resulting in abnormal desquamation of unusually large scales. In this disease, the normal KIF proteins are diminished in amount or absent, and other proteins more typical of proliferative epidermal cells are present. There is also evidence of proteolytic degradation of the KIF.

Linking transcription, RNA polymerase II elongation and alternative splicing

2020 ◽  
Vol 477 (16) ◽  
pp. 3091-3104 ◽  
Author(s):  
Luciana E. Giono ◽  
Alberto R. Kornblihtt
Keyword(s):  
Gene Expression ◽  
Alternative Splicing ◽  
Rna Polymerase Ii ◽  
Environmental Changes ◽  
Transcription Elongation ◽  
Single Gene ◽  
Regulation Of Gene Expression ◽  
Regulation Of Transcription ◽  
Stepping Stones ◽  
Eukaryotic Transcription

Gene expression is an intricately regulated process that is at the basis of cell differentiation, the maintenance of cell identity and the cellular responses to environmental changes. Alternative splicing, the process by which multiple functionally distinct transcripts are generated from a single gene, is one of the main mechanisms that contribute to expand the coding capacity of genomes and help explain the level of complexity achieved by higher organisms. Eukaryotic transcription is subject to multiple layers of regulation both intrinsic — such as promoter structure — and dynamic, allowing the cell to respond to internal and external signals. Similarly, alternative splicing choices are affected by all of these aspects, mainly through the regulation of transcription elongation, making it a regulatory knob on a par with the regulation of gene expression levels. This review aims to recapitulate some of the history and stepping-stones that led to the paradigms held today about transcription and splicing regulation, with major focus on transcription elongation and its effect on alternative splicing.

Changes in CD44 isoform expression during inflammatory skin disease

1997 ◽  
Vol 22 (03) ◽  
pp. 128-133
Author(s):  
A.J. HARRIS ◽  
D. DEAN ◽  
S. BURGE ◽  
F. WOJNAROWSKA
Keyword(s):  
Skin Disease ◽  
Inflammatory Skin Disease ◽  
Inflammatory Skin ◽  
Isoform Expression
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