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This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

This study found that while epidermal PLCγ1 is not necessary for keratinocyte differentiation in interfollicular epidermis, it is crucial for normal hair and sebaceous gland formation in mice.

This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.

This case report describes a 2-year-old boy with uncombable hair syndrome-like hair changes that resolved spontaneously after 9 months, with genetic analysis revealing a PLCD1 gene variant.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

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.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

This study identified miR-200c-3p as influencing key genes in the EGFR resistance pathway, suggesting its potential theranostic role in addressing issues related to this pathway.

This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.

This study observed that electro-acupuncture reduced global DNA methylation and DNMT3b expression in a PCOS-like rat model, suggesting a role of hypothalamic DNA methylation in PCOS development and treatment.

This study found that hMSC secretomes from umbilical cord Wharton's jelly had the most potent angiogenic effects, whereas those from adipose tissue demonstrated the weakest angiogenic potential.

In this study, the researchers reported that Notch/CSL signaling is crucial for hair follicle differentiation, with Wnt5a signaling and FoxN1 acting as mediators in mice.

This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.

This review discusses recent findings on molecular changes in cutaneous adnexal tumours and reports novel markers and pathways involved, highlighting the diverse oncogenic drivers and tumour suppressor alterations.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.

This study presented an elderly male with a nodular lesion diagnosed as pilomatricoma and discussed the value of diagnostic tools like dermoscopy and high-frequency ultrasonography, encouraging clinicians to consider pilomatricoma in differential diagnoses of nodular lesions across all ages.

This review discusses the current understanding of polycystic ovary syndrome, focusing on its epidemiology, pathophysiology, diagnosis, management, and future research directions, but reports no new clinical results.

This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.

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

This review examines the functions of vitamin D and its receptor in skin and explores how these are regulated, reporting no new clinical results.

This study found that in mice, dermal adipocytes initiate inflammation and aid repair after skin injury by releasing lipids, suggesting a role in managing inflammatory diseases and impaired wound healing.

This study reports previously unrecognized cellular complexity in growing mouse incisors, suggesting species-specific differences in cell dynamics between mouse and human teeth related to growth and differentiation.

This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.

This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.

This study found that newborn mouse skin organoids can robustly grow hair in vivo, while adult organoids require specific interventions to restore their hair-forming ability.

In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.

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.