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In this study, researchers characterized the retinal structure and function of the Oat^rhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.

Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.

This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.

This study identifies gene-regulatory networks related to genetic variants in skin and hair diseases, suggesting that dermal papilla cells are crucial in androgenetic alopecia.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.

This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.

In this study, hair-follicle-associated pluripotent stem cell implantation improved functional recovery and reduced inflammation in a mouse model of intracerebral hemorrhage.

This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.

This study introduces the multiple papillary centres model, offering a new explanation for hair twisting by combining known hair morphology features with differential growth rates caused by dermal papillae.

This study using a genetic mouse model found that S. aureus-driven dysbiosis sustains inflammatory skin side effects from EGFR inhibitors, suggesting prophylactic antibiotic treatment may reduce rash severity without fixing barrier defects.

This study demonstrated that in genetic mouse models, the calcium sensor Stim1, not Stim2, is essential for sweat secretion in sweat glands.

Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.

This review discusses various stem cell compartments in adult murine and human epidermis, examining their expressed markers and characterization assays, and reports no new experimental results.

Skin stem cells maintain and repair the outer layer of skin, with some types being essential for healing wounds.

This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.

This study found that altering cyclin-dependent kinase 4 (CDK4) levels in the bulge region of hair follicles affects the balance of stem cell numbers, potentially influencing hair follicle self-renewal and proliferation.

In this study, researchers presented a novel therapeutic approach for androgenetic alopecia combining AR-PROTAC degradation with regenerative strategies and evaluated the potential of GT20029 as a topical treatment, proposing a three-phase protocol and future research hypotheses.

This study identified three new genetic loci linked to sweat gland density in a GWAS involving 6,210 Han Chinese individuals, highlighting potential targets for understanding conditions like anhidrosis and hyperhidrosis and emphasizing the use of quantitative traits in genetic dermatology research.

This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.

This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.

One type of progenitor cell can maintain normal skin in mice.

In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.

In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.

This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.

This study identified more than 100 genetic loci associated with hair color variation in Europeans, explaining a significant portion of the trait's heritability and advancing understanding of hair pigmentation.

This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.

This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.

This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.

This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.