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This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This study analyzed the transcriptome of the Tianzhu white yak, identifying differential transcripts that shed light on the molecular mechanisms influencing hair length growth variation in this species.

This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.

This study suggests that changes in expressed transcripts and splice isoforms may explain the transition from curly to straight fleece in Chinese Tan sheep as they age.

This study on Dorper sheep identified important genetic factors influencing hair follicle development, finding that expression patterns and genes like DBI, FZD3, and ZDHHC21 play a crucial role in wool shedding, which could help improve understanding of mammalian skin-related traits and human hair advancement.

This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.

This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.

This review discusses the pharmacological properties of progestins used in contraception and hormone replacement therapy, focusing on drospirenone's unique effects, but reports no new experimental findings.

The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.

This review discusses the developmental regulation of wound healing mechanisms in mammals, focusing on the role of the Wnt and TGF‐β signaling pathways, and reports no new clinical findings.

A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.

This study found that cPPARγ and dnPPARγ isoforms are differentially expressed in healthy human skin, suggesting that PPARγ modulators may have compartment-specific effects depending on isoform presence.

This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.

This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.

This study demonstrated that keratin K124 is specific to equine hoof lamellar tissue and established monoclonal antibodies that can specifically recognize K124 without cross-reacting with other tissues.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

In this review, the researchers detailed how the p63 transcription factor influences epithelial stem cell activities such as self-renewal, differentiation, and proliferation, highlighting the role of TAp63 and ΔNp63 isoforms in both normal tissue development and cancer pathogenesis.

This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.

This study found that TAp63 and ΔNp63 isoforms in the p63 family interact with different transcription factors to regulate distinct transcriptional programs, affecting various biological functions like metabolic pathways, oxidative stress response, and epithelial morphogenesis in mouse epidermal cells.

This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.

This study reports that versican expression plays a crucial role in maintaining the anagen phase and hair inductive properties, as shown in a transgenic mouse model and hair growth assays.

In this study, researchers found that disrupting the PRL gene in mice led to earlier hair molting, especially in females, suggesting that PRL inhibits murine hair cycle events.

This study found that photoexposure significantly increased the gene expression of altered elastin, MMP12, and LOX, as well as the protein expression of tropoelastin and fibrillin-1, in skin models.

This study found that disrupting the PRL gene in mice alters the timing of hair cycling events, causing earlier molts and changes in hair characteristics, particularly affecting female mice more significantly.

This study found that keratinocyte growth factor is a potent mitogen in human hyperplastic prostate cells, suggesting it plays an important role in prostate growth by acting in a paracrine manner.

This study suggests that seasonal rhythm genes in cashmere goat skin are differentially expressed with changing daylight, potentially affecting hormone transformation and light sensitivity.

This study on feather pattern formation in chicken skin found that inhibiting gap junctional intercellular communication can lead to the emergence of new feather buds in specific spatial patterns, suggesting that GJIC may facilitate Turing-type periodic patterning by propagating inhibitory signals over long distances.