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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 study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.

This study found that TRPV3 ion channels on human epidermal keratinocytes suppress cell proliferation, induce cell death, and trigger a proinflammatory response, suggesting a role in cutaneous inflammatory processes.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

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 case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.

This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.

This study found that TPA treatment induced expression of keratins K6 and K16 in mouse epidermis, with K6 expressed across all cell layers and K16 only in post-mitotic cells.

This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.

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.

In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.

This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

In this study, PKCepsilon transgenic mice showed increased TNFalpha shedding during skin tumor promotion, which may contribute to the development of metastatic squamous cell carcinoma.

In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.

This study found that the long non-coding RNA lnc056 promotes the proliferation of hair follicle stem cells by upregulating TRIP6 expression through interaction with the transcription factor HNRNPUL1, suggesting a potential target for hair loss treatment.

This study found that TRPV4 activation induced massive exocytosis and cellular changes associated with ferroptosis in melanoma cells, highlighting a potential role for TRPV4 in mediating these processes.

Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.

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 suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.

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 Polycomb Repressive Complex 1 is crucial for maintaining stem cell identity across different lineages, but its loss results in varied transcriptional outcomes depending on the tissue context.

This study identifies specific molecular components involved in the intracellular trafficking of LGR5, revealing mechanisms that differ from typical GPCR recycling processes.

This study suggests that TIP39 and its receptor PTH2R, identified in human epidermis, may play a role in keratinocyte function and influence skin differentiation.

This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.

This laboratory study concluded that TRPA1 and TRPV1 channels do not play a role in mechanotransduction processes in slowly adapting type II mechanoreceptors in isolated rat sinus hair follicles.

This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.