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This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

This study found that Runx3 deficiency in mice affects hair type and shape, suggesting it may regulate hair formation through interactions between dermal and epidermal layers.

This study found that in mice with alopecia areata, CD8+ T cells showed clonal expansion and specific regulatory networks, which might help identify new therapeutic targets for patients not responding to JAK inhibitors.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

This study found that intravenous administration of a shark-derived receptor antibody, 3P17, promoted hair growth in mice by increasing hair matrix cell proliferation and activating leptin-STAT3 signaling, with transdermal leptin delivery enhancing this effect through improved skin penetration.

This report presents a case where multiple steatocystomas appeared in a psoriatic patient during ustekinumab treatment, suggesting the drug may unmask a genetic predisposition to steatocystoma multiplex.

This study found that inhibiting the Mitochondrial Pyruvate Carrier in human hair follicles ex vivo activated the integrated stress response, affecting cell proliferation and metabolism.

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 identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This study found that overexpression of NSD3 in the mammary gland of transgenic mice led to mammary hyperplasia, dysplasia, and invasive ductal carcinoma, mirroring patterns seen in human breast cancer.

This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.

This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.

This study found that PRC2 plays a non-instructive role in adult hair follicle stem cells, with its loss not affecting quiescence or cell identity, despite upregulation of genes linked to activation.

This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.

This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.

This study found that the absence of the stress-responsive protein Sesn2 increased hair cell susceptibility to gentamicin in the inner ear, indicating Sesn2's potential protective role against aminoglycoside-induced damage.

This study found that during amelogenesis in Msx2 null mice, a dysfunctional enamel organ developed due to abnormal epithelial transformation and lacked proper enamel formation.

This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.

PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.

This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.

This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.

In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.

This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.

This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.

Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.

This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.

This study found that Hex gene expression patterns in chick embryo dorsal skin during feather bud development suggest a significant role in initiating feather morphogenesis.