Single-cell sequencing analysis related to sphingolipid metabolism guides immunotherapy and prognosis of skin cutaneous melanoma.

Background: We explore sphingolipid-related genes (SRGs) in skin melanoma (SKCM) to develop a prognostic indicator for patient outcomes. Dysregulated lipid metabolism is linked to aggressive behavior in various cancers, including SKCM. However, the exact role and mechanism of sphingolipid metabolism in melanoma remain partially understood.

Innovative breakthroughs facilitated by single-cell multi-omics: manipulating natural killer cell functionality correlates with a novel subcategory of melanoma cells.

Background: Melanoma is typically regarded as the most dangerous form of skin cancer. Although surgical removal of lesions can be used to effectively treat metastatic disease, this condition is still difficult to cure. Melanoma cells are removed in great part due to the action of natural killer (NK) and T cells on the immune system.

Analysis of related factors affecting hemoporfin-mediated photodynamic therapy for port-wine stain: A retrospective study.

Background: Hemoporfin-mediated photodynamic therapy (HMME-PDT) is currently considered one of the most promising therapies for port-wine stain (PWS). However, the efficacy of this is very variable and needs further studies.

Methods: A total of 101 patients with PWS in the face, neck, or extremities who received at least 2 HMME-PDT sessions were included in the study, and correlations of efficacy with age, gender, locations, treatment sessions, and PDL treatment history were analyzed.

Trans-ethnic Mendelian randomization study of systemic lupus erythematosus and common female hormone-dependent malignancies.

Background: Observational research has reported that systemic lupus erythematosus (SLE) is related to common female hormone-dependent cancers, but the underlying causal effect remains undefined. This study aimed to explore the causal association of these conditions by Mendelian randomization (MR) analysis.

Methods: We selected instrumental variables for SLE from genome-wide association studies (GWASs) conducted in European and East Asian populations.

Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations.

Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be involved in the pathogenesis of IPP. IPP usually develops with no preceding psoriasis vulgaris (PV) or familial history.

Bullous Pemphigoid After Vaccination With the Inactivated Severe Acute Respiratory Syndrome Coronavirus 2 Vaccine: Two Cases in China.

Background: Coronavirus disease-2019 (COVID-19) led to a global pandemic in March 2020 that has involved tens of millions of people. To date, prophylactic vaccines have been found to be the most effective method to contain the pandemic. Bullous pemphigoid (BP) is an autoimmune skin disease that mainly affects older individuals.

Evaluation of Susceptibility Genes/Loci Associated with Male Androgenetic Alopecia (MAGA) for Female-Pattern Hair Loss in a Chinese Han Population and a Brief Literature Review.

BACKGROUND Female-pattern hair loss (FPHL) is a common disorder affecting women, and FPHL can cause psychological dysfunction and affect the social activities of patients. The disease-causing mechanisms are believed to be similar to those of male androgenetic alopecia (MAGA). Although genome-wide association studies (GWAS) have confirmed susceptibility genes/loci for MAGA, the associations between these genetic loci and FPHL are largely unknown.

Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.

Background: Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.

Objectives: We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity.

Exome-wide association study identifies four novel loci for systemic lupus erythematosus in Han Chinese population.

Objectives: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of considerable genetic predisposition. Genome-wide association studies have identified tens of common variants for SLE. However, the majority of them reside in non-coding sequences.

Discovery of a novel genetic susceptibility locus on X chromosome for systemic lupus erythematosus.

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease affecting predominantly females. To discover additional genetic risk variants for SLE on the X chromosome, we performed a follow-up study of our previously published genome-wide association study (GWAS) data set in this study.

Methods: Twelve single nucleotide polymorphisms (SNPs) within novel or unpublished loci with P-value < 1.

A common variant in the SIAH2 locus is associated with estrogen receptor-positive breast cancer in the Chinese Han population.

Background: Genome-wide association studies (GWAS) have identified many loci associated with breast cancer risk. These studies have primarily been conducted in populations of European descent.

Objective: To determine whether previously reported susceptibility loci in other ethnic groups are also risk factors for breast cancer in a Chinese population.

Genetic variants at 20p11 confer risk to androgenetic alopecia in the Chinese Han population.

Background: Androgenetic alopecia (AGA) is a well-characterized type of progressive hair loss commonly seen in men, with different prevalences in different ethnic populations. It is generally considered to be a polygenic heritable trait. Several susceptibility genes/loci, such as AR/EDA2R, HDAC9 and 20p11, have been identified as being involved in its development in European populations.

Identification of a missense variant in LNPEP that confers psoriasis risk.

Psoriasis is a chronic inflammatory disease with a complex genetic architecture. To further advance gene discovery, we extended our genome-wide association study data set of 1,139 cases and 2,234 controls and replicated two independent cohorts of 7,200 cases and 10,491 controls. We identified the missense variant rs2303138 (p.

Association study confirmed susceptibility loci with keloid in the Chinese Han population.

Keloid is benign fibroproliferative dermal tumors with unknown etiology. Recently, a genome-wide association study (GWAS) in Japanese population has identified 3 susceptibility loci (rs873549 at 1q41, rs940187 and rs1511412 at 3q22.3, rs8032158 at 15p21.

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

Disseminated superficial actinic porokeratosis (DSAP) is an autosomal dominantly inherited epidermal keratinization disorder whose etiology remains unclear. We performed exome sequencing in one unaffected and two affected individuals from a DSAP family. The mevalonate kinase gene (MVK) emerged as the only candidate gene located in previously defined linkage regions after filtering against existing SNP databases, eight HapMap exomes and 1000 Genomes Project data and taking into consideration the functional implications of the mutations.