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This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.

This review discusses the potential regulation of signal transduction pathways by microRNAs in animal cells, aiming to identify biological processes that may be influenced by miRNA-mediated regulation, but it reports no new experimental outcomes.

This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.

This genome-wide association study identified 20 genetic signals at 15 risk loci related to severe acne, revealing new insights into its genetic predisposition, particularly affecting skin structure and maintenance.

This study found that TSC2-null fibroblast cells from TSC skin hamartomas can induce hair follicle formation and hamartomatous changes in keratinocytes, with active mTOR signaling observable in a mouse xenograft model.

This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.

This study describes the positive effects of the JAK inhibitor ruxolitinib in treating autoimmune manifestations in three patients with autoimmune polyendocrine syndrome type-1 over a period of at least 30 months, with excellent tolerance and no adverse events observed.

This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.

This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

This review article summarizes recent strategies to enhance the precise control of CRISPR/Cas9 gene editing, addressing tissue-specific challenges and off-target effects by exploring various activation methods like cell-specific promoters and small molecules.

This study suggests that androgen receptor gene CAG repeat length may influence serum free testosterone levels in some PCOS patients, with longer repeats associated with higher testosterone concentrations.

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 two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.

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 case report details the first observed instance of congenital erythropoietic porphyria in Armenia, where standard treatments did not stop symptom progression in a 22-year-old man, prompting consideration of stem cell transplant.

In this study of male patients with 46,XY 5α-reductase type 2 deficiency, DHT therapy was effective in achieving penile enlargement during infancy, while testosterone replacement therapy proved more beneficial during puberty, possibly due to increased conversion to DHT.

This review explores potential indications for prolactin receptor inhibitors beyond breast and prostate cancers, emphasizing the need for potent antibodies to further research prolactin receptor expression.

This review identifies cysteine's central role in hair growth and its potential impact on Alopecia Areata's pathogenesis, suggesting examination of cysteine metabolism might clarify the disease's underlying mechanisms and lead to new treatments.

In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.

This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.

This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.

This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals.

This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.

This chapter reviews various mucocutaneous manifestations of endocrine disorders and provides illustrative images of these clinical features, but reports no new research findings.

This study found that quiescence in hair follicle stem cells acts as a tumor suppression mechanism for cutaneous squamous cell carcinoma, with Pten activity necessary to maintain this state.

This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.

This study explores the complex and not yet fully understood causes of premature hair greying, noting genetic factors such as Pax3 and MITE genes, potential defects in melanin transfer, and associations with certain syndromes, while stating that effective treatments are currently lacking.

In this study, CD4+ non-haematopoietic, skin-resident stem cell-like populations were identified in both murine and human epidermis, suggesting they may serve as potential basal cell carcinoma precursors.