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This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This study found that epidermal stem cell-specific Jag1 expression levels are crucial for effective wound healing and scar reduction, and porcine acellular dermal matrix treatment enhances this process in mice by boosting Notch/Jagged1 signaling.

GLI2 activates GLI1, promoting skin tumor growth and hair development.

This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.

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.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

This case report suggests that tofacitinib may effectively manage symptoms of AGS7 in a patient with an IFIH1 mutation, though further studies are needed to confirm its long-term safety and efficacy.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

In this research, authors found that skin-resident ILCs regulate sebaceous gland function and microbial balance, emphasizing an immune-epithelia system that supports host-microbe symbiosis.

Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.

This review explores the role of FGFR2b-signaling in the pathogenesis of acne, highlighting its influence on sebaceous gland physiology and the effects of anti-acne agents like isotretinoin.

This review explores the similarities between wound healing, palatogenesis, and orofacial clefting, suggesting these processes share common pathways and genetic regulatory mechanisms, but reports no new experimental results.

This study found that Fibroblast growth factor-9 (FGF-9) accelerates epithelial invagination in engineered ectodermal organs and suggests its potential role in organogenesis and regeneration research.

This study found that the Notch signaling pathway is suppressed in basal cell carcinomas and highly expressed in hair follicles, suggesting it might be a target for treatment strategies.

This study identified a distinct CD49fhigh mesenchymal stem cell subpopulation in the dermis that supports hair follicle development and maintenance via Notch signaling activation.

This study reports differential gene expression in the leading edge and inner surface epithelial cells of murine eyelids, suggesting that distinct signaling pathways are active during embryonic eyelid closure.

In this study, researchers analyzed miRNA and gene expression in the hair follicles of FMD during different hair cycle stages, identifying differential expression patterns and key pathways involved in hair follicle development and growth.

This study found that the deletion of soluble epoxide hydrolase (sEH) in mice altered the hair follicle cycle and increased hair growth through effects on hair follicle stem and matrix cells.

This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.

This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.

Upadacitinib effectively treats pyoderma gangrenosum.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

In this study, researchers demonstrated that the Id2 gene acts as a direct target and effector of BMP signaling, playing a key role in maintaining quiescence in hair follicle stem cells in vivo.

Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This study predicted that 6-hydroxy genistein, coreximine, and scoulerine from Dadap leaves may act as anti-alopecia agents by interacting with JAK2, but further in-vivo testing is needed.

In this study, epidermal Notch activation increased jagged 1 expression, leading to skin changes like thickening and blistering, with these effects inhibited when jagged 1 was absent.