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A specific gene mutation causes severe skin and nail issues and hair loss.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.

This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.

This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.

This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.

In this study, researchers developed two novel mouse models to investigate how CD271 deletion in keratinocytes affects skin homeostasis, finding that it leads to changes resembling dysplastic skin conditions with immune cell recruitment and inflammatory cytokine release.

This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.

This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.

This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.

In this case study, a 70-year-old male with lymphoid variant hypereosinophilic syndrome presented with rare isolated pulmonary involvement, which improved with prednisone treatment.

This study found that patients with psoriasis had a significantly higher prevalence of autoimmune diseases and other comorbidities compared to individuals without psoriasis.

In this study, the researchers identified a PBX1-SIRT1-PARP1 axis that plays a crucial role in reducing senescence and apoptosis in hair follicle-derived mesenchymal stem cells.

This study identified PTEN as a key regulator in non-healing venous leg ulcers, suppressing immune responses and lymphangiogenesis, suggesting its potential as a therapeutic target for promoting VLU healing.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.

This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.

This study suggests that PLA2R1 overexpression in PMN affects the podocyte cycle and may involve an additional immune response, which could provide new directions for PMN treatment development.

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.

This study found that actively targeted AN2728-loaded nanocarriers reduced inflammation and improved skin condition in a mouse model of psoriasiform inflammation compared to free drug and non-targeted nanoparticles.

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

The enzyme PA-PLA1α is important for proper hair follicle development.

This A.S.P.E.N. document offers guidance for managing parenteral nutrition shortages, emphasizing alternative routes and careful allocation to prevent deficiencies.

This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.

In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.

This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.

This study found that human skin expresses proenkephalin, whose expression is upregulated by environmental stress and varies in pathological conditions, increasing in psoriasis and decreasing in melanocytic tumors.