10(E)-Pentadecenoic Acid Inhibits Melanogenesis Partly Through Suppressing the Intracellular MITF/Tyrosinase Axis.

Melanogenesis, the biological process responsible for melanin synthesis, plays a crucial role in determining skin and hair color, photoprotection, and serving as a biomarker in various diseases. While various factors regulate melanogenesis, the role of fatty acids in this process remains underexplored. This study investigated the anti-melanogenic properties of 10(E)-pentadecenoic acid (10E-PDA) through both in silico and in vitro analyses.

The Beneficial Roles of Seaweed in Atopic Dermatitis.

Atopic dermatitis (AD) is a chronic, inflammatory skin condition characterized by severe pruritus and recurrent flare-ups, significantly impacting patients' quality of life. Current treatments, such as corticosteroids and immunomodulators, often provide symptomatic relief but can lead to adverse effects with prolonged use. Seaweed, a sustainable and nutrient-dense resource, has emerged as a promising alternative due to its rich bioactive compounds-polysaccharides, phlorotannins, polyphenols, and chlorophyll-that offer anti-inflammatory, antioxidant, and immunomodulatory properties.

Docosatrienoic Acid Inhibits Melanogenesis Partly through Suppressing the Intracellular MITF/Tyrosinase Axis.

Melanogenesis, essential for skin photoprotection and pigmentation, can lead to disorders like melasma and hyperpigmentation, which are challenging to treat and affect quality of life. Docosatrienoic acid (DTA), a polyunsaturated omega-3 fatty acid, has been identified as a potential regulator of skin aging. This study investigates DTA's effects on melanogenesis and its underlying molecular mechanisms using in silico and in vitro analyses.

The beneficial effects of ethanolic extract of Sargassum serratifolium in DNCB-induced mouse model of atopic dermatitis.

Atopic dermatitis is a chronic complex inflammatory skin disorder that requires sustainable treatment methods due to the limited efficacy of conventional therapies. Sargassum serratifolium, an algal species with diverse bioactive substances, is investigated in this study for its potential benefits as a therapeutic agent for atopic dermatitis. RNA sequencing of LPS-stimulated macrophages treated with ethanolic extract of Sargassum serratifolium (ESS) revealed its ability to inhibit a broad range of inflammation-related signaling, which was proven in RAW 264.

Plant callus-derived shikimic acid regenerates human skin through converting human dermal fibroblasts into multipotent skin-derived precursor cells.

Background: The human skin-derived precursors (SKPs) are a good cell source for regeneration. However, the isolation of SKP from human skin is limited. To overcome this drawback, we hypothesized that the component of plant stem cells could convert human fibroblasts to SKPs.

A nonsense variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.

Genes that are primarily expressed in cochlear glia-like supporting cells (GLSs) have not been clearly associated with progressive deafness. Herein, we present a deafness locus mapped to chromosome 3p25.1 and an auditory neuropathy spectrum disorder (ANSD) gene, , mainly expressed in GLSs.

Genomic Analysis of Korean Patient With Microcephaly.

Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients. We analyzed their clinical phenotypes and radiologic images and conducted whole exome sequencing (WES) and analysis of copy number variation (CNV).

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.

Introduction: Besides cerebellar ataxia, various other movement disorders, including dystonia, could manifest as main clinical symptoms in ataxia-telangiectasia (A-T). However, the clinical characteristics of dystonic A-T patients are not clearly elucidated.

Methods: To investigate the characteristics of dystonic A-T, we screened previous reports with A-T patients presenting dystonia as a main manifestation, and included 38 dystonic A-T patients from 16 previous studies and our 2 cases.

Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia.

Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.

A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.

CHARGE syndrome has a clinically broad spectrum of phenotypes, including partial or atypical type. CHD7 mutation is related to CHARGE syndrome that shows various phenotypes according to the CHD7 variant. Developments in genetic analysis techniques, such as next-generation sequencing (NGS), are helping both diagnosis and treatment of diseases.

One-pot copper-catalyzed three-component reaction: a modular approach to functionalized 2-quinolones.

A copper-catalyzed three-component annulation for the synthesis of functionalized 2-quinolones was developed. Three reactions including an S2, a Knoevenagel, and finally C-N bond formation are involved in the designed cascade reaction using 2-bromoacylarenes, 2-iodoacetamide, and nucleophiles as the three components. A new catalytic system was discovered during the study and this modular approach is highly efficient to access functionalized 2-quinolone derivatives, compatible with a broad range of functional groups, scalable, and step-economic.

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.

DNA polymerase δ, whose catalytic subunit is encoded by POLD1, is responsible for synthesizing the lagging strand of DNA. Single heterozygous POLD1 mutations in domains with polymerase and exonuclease activities have been reported to cause syndromic deafness as a part of multisystem metabolic disorder or predisposition to cancer. However, the phenotypes of diverse combinations of POLD1 genotypes have not been elucidated in humans.

Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human -related cytoskeletopathy.

Background: Diaphanous-related formin 1 (DIA1), which assembles the unbranched actin microfilament and microtubule cytoskeleton, is encoded by . Constitutive activation by the disruption of autoinhibitory interactions between the N-terminal diaphanous inhibitory domain (DID) and C-terminal diaphanous autoregulatory domain (DAD) dysregulates DIA1, resulting in both hearing loss and blood cell abnormalities.

Methods And Results: Here, we report the first constitutively active mutant in the DID (p.

The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6.

Objective: The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation.

Methods: We provide the first report of a dystonia patient with a genetically confirmed GNAL mutation in the Korean population and reviewed the literature on patients with the GNAL mutation who underwent GPi-DBS. We compared the effectiveness of DBS in patients with the GNAL mutation compared to that in patients with DYT1 and DYT6 in a previous study.

Development of a HA1-specific enzyme-linked immunosorbent assay against pandemic influenza virus A H1N1.

Purpose: Enzyme-linked immunosorbent assay (ELISA) has been used in the diverse field to evaluate influenza virus infection; for the surveillance, diagnosis, efficacy evaluation, and development of the vaccine. The aim of this study was to establish an ELISA for detecting HA strain-specific antibodies using recombinant pandemic A H1N1 (pH1N1) HA1 (rHA1) protein.

Materials And Methods: rHA1 was produced in baculovirus system.

Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.

Otoancorin (OTOA), encoded by OTOA, is required for the development of the tectorial membrane in the inner ear. Mutations in this gene cause nonsyndromic hearing loss (DFNB22). The molecular mechanisms underlying most DFNB22 remain poorly understood.

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.

The mutational spectrum of deafness in Indochina Peninsula, including Vietnam, remains mostly undetermined. This significantly hampers the progress toward establishing an effective genetic screening method and early customized rehabilitation modalities for hearing loss. In this study, we evaluated the genetic profile of severe-to-profound hearing loss in a Vietnamese pediatric population using a hierarchical genetic analysis protocol that screened 11 known deafness-causing variants, followed by massively parallel sequencing targeting 129 deafness-associated genes.

Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.

Recent advances in next-generation sequencing technologies have uncovered the genetic backgrounds of various diseases. Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene. In this study, we aimed to review the previous reports of type 1 sialidosis and compare those with the first case of type 1 sialidosis in Korea.