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This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

In this study, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, partly improved cardiac outflow tract septation in Tbx1 mutant mice, suggesting that inhibiting collagen cross-linking may mitigate some effects of Tbx1 mutation associated with DiGeorge syndrome.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.

In this study, researchers developed a novel genetic tool using Wif1-CreER knock-in mice for precise labeling and manipulation of dermal papilla cells, which could enhance understanding of hair biology and aid in developing targeted therapies for hair-related disorders.

The Celsr1 gene is crucial for normal hair patterning in mice.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.

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 reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

In this study, researchers demonstrated that their technology efficiently produces CFx-δ2 from stem cells and accelerates wound healing by enhancing fibroblast activity, reducing inflammation, and promoting blood vessel formation.

This study found that inhibiting the interaction between CXXC5 and Dishevelled could stimulate hair regrowth in mouse models by enhancing WNT/β-catenin signaling, suggesting a potential therapeutic strategy for hair loss involving compounds that block this interaction, such as interfering short peptides.

This study found that CD90+ cells, resembling mesenchymal stem cells, are abundantly present in the lower part of anagen hair follicles in dogs.

This study found that overexpressing PKCδ in transgenic mice did not reduce squamous cell carcinoma development induced by UV radiation, despite its effectiveness against TPA-promoted cancer in these mice.

In this study, researchers found that the gene Dkk4 influences color pattern formation in domestic cat fetuses, and its mutation is linked to the Ticked pattern type.

This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.

This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.

This study identified that disrupting Mef2c in dermal papilla cells delays the early stages of hair cycle catagen in mice, revealing potential interactions with Sox18 in regulating hair growth.

This study identified a subpopulation of neural crest-derived progenitor cells in human corneal endothelial tissue from normal and Fuchs endothelial corneal dystrophy donors, which may have potential for future cell therapy development.

This quiz article provides a series of dermatological diagnosis questions based on a Journal of Investigative Dermatology article and includes explanations but reports no original research findings.

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 in a transgenic mouse model, a modified form of β-catenin inhibited normal hair follicle development and promoted epidermal cyst formation, revealing distinct effects on Wnt signaling.