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This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.

This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.

In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.

This study found that the natural estrogen Estetrol (E4) may promote hair follicle growth and prevent miniaturization, suggesting its potential as a treatment for hair loss disorders.

This study found that hair root sheaths can be accurately typed for erythrocyte acid phosphatase, adenylate kinase, and adenosine deaminase, consistent with blood typing results from the same donors.

This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.

This study found that patients with alopecia areata have distinct mRNA and lncRNA expression profiles between normal and bald scalp areas, identifying differentially expressed genes and revealing potential biomarkers for diagnosis, with keratin family genes possibly playing a key role in the disease's pathogenesis.

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 found that subcutaneous adipose tissue-derived extracellular vesicles (AT-EVs) protect skin from photodamage by enhancing fibroblast proliferation and reducing oxidative stress compared to those from adipose-derived stem cells.

This study found that poly(adenosine diphosphate-ribose) synthesis in human skin varies by cell type and condition, with distinct patterns in psoriatic, cancerous, and normal tissues.

This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.

This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.

This study found that A-FABP serum levels were significantly higher in male patients with androgenetic alopecia compared to controls, and the authors concluded that A-FABP could serve as a biomarker for early detection of this condition.

In this study, researchers found that male and female APCHi mice exposed to ionizing radiation showed near-normal lipid and metabolite levels, suggesting activated protein C may offer some protective effects against radiation-induced damage affecting organ systems.

In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

This study found that the peptide derivative beta-Ala-Pro-Dab-NHbenzyl may reduce wrinkles and sebum production in human skin by inhibiting dipeptidyl peptidase 4, suggesting potential for acne and skin inflammation treatment.

This study found that EP 2 signaling is crucial for macrophage recruitment and inflammatory regulation in the injured heart, impacting cardiac repair processes.

This study suggests that EDA-A2 induces apoptosis in hair follicles by increasing DKK-1 expression, implicating EDA2R signaling as a potential therapeutic target for androgenetic alopecia.

In this genetic study, the researchers found that variants in the CLEC4D gene are significantly associated with the development of alopecia areata among individuals in the Jordanian population, pointing to a potential genetic influence on the disease's pathogenesis.

This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.

This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.

In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.

This study found that PPARα agonists provided protective effects in mouse models of alopecia areata by promoting early reversal of the condition and inhibiting T effector cell function, indicating potential therapeutic value for this inflammatory condition.

In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

The enzyme PA-PLA1α is important for proper hair follicle development.

This study identified rare nucleotide substitutions in the SLC39A4 gene in children with acrodermatitis enteropathica, suggesting a genetic component to the disease's etiology.