Familial hypercholesterolemia class II low-density lipoprotein receptor response to statin treatment.

Low-density lipoprotein (LDL) receptor (LDLR) mutations are the primary cause of familial hypercholesterolemia (FH). Class II LDLR mutations result in a misfolded LDLR retained in the endoplasmic reticulum (ER). We have developed a model of FH class II and CRISPR-corrected induced pluripotent stem cells (iPSC) capable of replicating mutant and repaired LDLR functions.

Investigation of RNA Editing Sites within Bound Regions of RNA-Binding Proteins.

Studies in epitranscriptomics indicate that RNA is modified by a variety of enzymes. Among these RNA modifications, adenosine to inosine (A-to-I) RNA editing occurs frequently in the mammalian transcriptome. These RNA editing sites can be detected directly from RNA sequencing (RNA-seq) data by examining nucleotide changes from adenosine (A) to guanine (G), which substitutes for inosine (I).

Long Non-coding RNAs in Endothelial Biology.

In recent years, the role of RNA has expanded to the extent that protein-coding RNAs are now the minority with a variety of non-coding RNAs (ncRNAs) now comprising the majority of RNAs in higher organisms. A major contributor to this shift in understanding is RNA sequencing (RNA-seq), which allows a largely unconstrained method for monitoring the status of RNA from whole organisms down to a single cell. This observational power presents both challenges and new opportunities, which require specialized bioinformatics tools to extract knowledge from the data and the ability to reuse data for multiple studies.

A novel long non-coding RNA Myolinc regulates myogenesis through TDP-43 and Filip1.

Myogenesis is a complex process required for skeletal muscle formation during embryonic development and for regeneration and growth of myofibers in adults. Accumulating evidence suggests that long non-coding RNAs (lncRNAs) play key roles in regulating cell fate decision and function in various tissues. However, the role of lncRNAs in the regulation of myogenesis remains poorly understood.

Regulates Igf2bp2 Translation in Cardiomyocytes.

Rationale: Increasing evidence indicates the presence of lncRNAs in various cell types. is an imprinting gene transcribed from the paternal chromosome. It is in antisense orientation to the imprinted, but maternally derived, gene, on which exerts its regulation in .

Logic programming to infer complex RNA expression patterns from RNA-seq data.

To meet the increasing demand in the field, numerous long noncoding RNA (lncRNA) databases are available. Given many lncRNAs are specifically expressed in certain cell types and/or time-dependent manners, most lncRNA databases fall short of providing such profiles. We developed a strategy using logic programming to handle the complex organization of organs, their tissues and cell types as well as gender and developmental time points.

ANGIOGENES: knowledge database for protein-coding and noncoding RNA genes in endothelial cells.

Increasing evidence indicates the presence of long noncoding RNAs (lncRNAs) is specific to various cell types. Although lncRNAs are speculated to be more numerous than protein-coding genes, the annotations of lncRNAs remain primitive due to the lack of well-structured schemes for their identification and description. Here, we introduce a new knowledge database "ANGIOGENES" (http://angiogenes.

Screening and validation of lncRNAs and circRNAs as miRNA sponges.

Intensive research in past two decades has uncovered the presence and importance of noncoding RNAs (ncRNAs), which includes microRNAs (miRs) and long ncRNAs (lncRNAs). These two classes of ncRNAs interact to a certain extent, as some lncRNAs bind to miRs to sequester them. Such lncRNAs are collectively called 'competing endogenous RNAs' or 'miRNA sponges'.

The identification and characterization of novel transcripts from RNA-seq data.

Owing greatly to the advancement of next-generation sequencing (NGS), the amount of NGS data is increasing rapidly. Although there are many NGS applications, one of the most commonly used techniques 'RNA sequencing (RNA-seq)' is rapidly replacing microarray-based techniques in laboratories around the world. As more and more of such techniques are standardized, allowing technicians to perform these experiments with minimal hands-on time and reduced experimental/operator-dependent biases, the bottleneck of such techniques is clearly visible; that is, data analysis.

Videodermoscopy: a useful tool for diagnosing congenital triangular alopecia.

Congenital triangular alopecia, despite its name, usually presents in children between 3 and 6 years of age, but adult patients have been reported. It is not uncommon for triangular alopecia to be misdiagnosed as alopecia areata and treated for such. This is especially true when a lesion of triangular alopecia presents in an area of the scalp other than the typical fronto-temporal hairline or later in adulthood.

Cutaneous epithelioid hemangioendothelioma.

Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of endothelial cell origin. We describe an EHE arising on the plantar surface of the foot that was treated as verruca vulgaris for several years before a biopsy showed EHE. We discuss the clinical and histopathologic differential diagnoses for these tumors and review additional cases in which EHE has been mistaken for benign entities clinically.

Allergic contact dermatitis caused by colophony in an epilating product.

Considering the widespread use of colophony-containing epilating products and the frequency of sensitization to colophony, it is somewhat surprising that reports of allergic contact dermatitis from these products are so infrequent. Reactions to colophony can be severe, and they may present even after initial exposure (primary sensitization). Consequently, health care practitioners should be aware of potential colophony-induced allergic contact dermatitis in patients exposed to epilating products.

Contact and primary irritant dermatitis of the nail unit diagnosis and treatment.

Contact dermatitis of the nail unit is not rare. The most common allergens are found in nail cosmetics such as enamel, sculptured nails, and preformed plastic tips. Toluene sulfonamide formaldehyde resin, acrylates, and ethylcyanoacrylate are the most common allergens.

The utility of the TRUE test in a private practice setting.

Background: Studies suggest that the Thin-Layer Rapid-Use Epicutaneous Test (TRUE Test) may be inadequate to completely diagnose a significant number of patients with allergic contact dermatitis (ACD).

Objective: To study the usefulness of the TRUE Test as a triage tool in a private practice setting.

Methods: A retrospective chart review of patients who were patch-tested with the TRUE Test between July 1, 2000, and June 30, 2004, in four private dermatology practices was conducted.

Allergic contact dermatitis in children.

Purpose Of Review: The following paper reviews the recent literature pertaining to allergic contact dermatitis in the pediatric population.

Recent Findings: Allergic contact dermatitis may affect as many as 20% of the pediatric population. Recent studies implicate the following chemicals as the most common causes: nickel, topical antibiotics, preservative chemicals, fragrances and rubber accelerators.

Etanercept for the treatment of psoriasis in the elderly.

This study's objective was to analyze the effect of etanercept on Psoriasis Area and Severity Index (PASI) 50, PASI 75, and Dermatology Life Quality Index in geriatric and nongeriatric populations. We conducted a post hoc analysis of two large phase III randomized placebo trials of etanercept. There were no statistically significant differences between the elderly and young with regard to the number of patients reaching a PASI 50 or PASI 75 at any of the 3 dosing regimens.

Eccrine porocarcinoma arising in two African American patients: distinct presentations both treated with Mohs micrographic surgery.

Abstract Background Eccrine porocarcinoma (EPC) is a rare, malignant adnexal tumor that has been reported only three times specifically in African American individuals. Diagnosis and treatment of EPC is important, given the 20% local recurrence and regional metastatic rates. However, no standard of care has been developed to guide effective treatment.

The CLASI (Cutaneous Lupus Erythematosus Disease Area and Severity Index): an outcome instrument for cutaneous lupus erythematosus.

We developed and validated a measurement instrument (CLASI-Cutaneous Lupus Erythematosus Disease Area and Severity Index) for lupus erythematosus that could be used in clinical trials. The instrument has separate scores for damage and activity. A group of seven American Dermato-Rheumatologists and the "American College of Rheumatology Response Criteria Committee on SLE (systemic lupus erythematosus)" assessed content validity.

Lyral: a fragrance allergen.

Fragrances are a common cause of contact dermatitis and account for a large percentage of reactions to cosmetic products. Novel fragrance compounds that may not be detected by the common fragrance screening agents (including balsam of Peru and fragrance mix) are continually being produced. Lyral is one of those allergens found in many cosmetic and household products.

Neoprene.

Neoprene is a synthetic rubber with many common uses, including use in shoe insoles and adhesives, orthopedic braces, and gloves. Many cases of type IV hypersensitivity from neoprene contact have been reported. Thioureas, the most commonly used vulcanization accelerators in the manufacture of neoprene, are responsible for the majority of these cases.

Allergic contact dermatitis from isocyanates among sculptors.

Allergic contact dermatitis from isocyanates is rare. We present the cases of two sculptors who developed a dermatitis from polyurethane sculpting materials. The patients reacted to diphenylmethane diisocyanate and isophorone diisocyanate.