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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 case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.

This review discusses the complexities and uncertainties in the pathways and mechanisms for disulfide bond formation in multicellular organisms and reports no new experimental findings.

In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.

This study suggested that Nexin 1, a powerful serine-protease inhibitor, may have a role in regulating hair follicle growth by influencing cellular growth and differentiation.

This study suggests that PrPC plays a role in the differentiation of mouse embryonic stem cells during neurogenesis, impacting neural progenitor cell development.

This study reports on the biochemical characteristics of S100A3 protein in human hair cuticle, notably finding its N-terminal methionine is acetylated and has a slightly lower isoelectric point compared to the recombinant version.

This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.

This study explored the use of multiphoton microscopy to monitor changes in tumors and surrounding tissues in breast cancer patients undergoing neoadjuvant chemotherapy, finding it may effectively detect treatment response at cellular levels without using exogenous contrast agents.

This study found that AtT-20 pituitary cells with higher cAMP-dependent kinase activity had larger calcium currents and significantly increased beta-endorphin release compared to cells with lower kinase activity.

This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.

This study identified gene sets associated with Tourette Syndrome, implicating Ligand-gated Ion Channel Signaling, Lymphocytic, and Cell Adhesion and Trans-synaptic Signaling processes in the disorder's neurobiology.

This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.

This study engineered a bioluminescent yeast strain responsive to androgenic chemicals, demonstrating rapid and sensitive detection suitable for high-throughput screening and environmental monitoring.

This chapter reviews surface plasmon resonance (SPR) methodology and its applications in basic science and human disease without reporting new clinical results.

Tenascin is present in normal skin and certain skin tumors but not in sebaceous glands or their tumors.

S100A8 and S100A9 proteins help form hair shafts during growth.

This study found that the protein Formin 2 helps regulate cell-to-cell transport in thale cress by stabilizing actin filaments at plasmodesmata, with its absence leading to increased permeability and vulnerability to viral infections.

This study observed that innervation of the mystacial pad in rats by fine-caliber axons is more extensive and complex than previously described, with distinct differences in labeling patterns depending on the tracer and survival time.

This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.

This study found that the proteins GDNF, NTN, GFRα-1, GFRα-2, and c-Ret are differentially expressed during various stages of the human hair follicle cycle, with potential implications for hair biology.

This study found that small proline-rich proteins modify the biomechanical properties of cornified cell envelopes in rodent forestomachs, potentially affecting the tissue's ability to withstand mechanical stress.

This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.

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 found that epimorphin is closely linked to developing hair follicles in human fetuses, suggesting it plays a significant role in hair follicle morphogenesis.

This study found that epimorphin and a modified peptide, pep7, can stimulate hair follicles to shift from a resting phase to a growing phase in both an organ culture assay and in mice.

This study found that trichohyalin is expressed in various normal and pathological epithelia beyond hair follicle cells, where it is uniquely associated with filaggrin, suggesting a specific role in aggregating K6/K16-containing intermediate filaments.

This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.

This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.