April 2023 in “Journal of Investigative Dermatology” This study found that tissue transcriptomics and a normalization approach can effectively cluster nine inflammatory skin diseases and identify specific biomarkers, including PTEN as a marker for cutaneous lupus erythematosus.
October 2024 in “Benha Medical Journal” In this case-control study, researchers found that patients with alopecia areata had significantly higher serum levels of interleukin-18 and NLRP3 compared to healthy controls, suggesting a potential link between these inflammatory markers and the disease.
4 citations
,
August 2024 in “Skin Research and Technology” The study was retracted.
July 2026 in “Journal of Investigative Dermatology”
7 citations
,
February 2023 in “Inflammation and Regeneration” This study found that IL-1α promotes hair follicle regeneration and stem cell activation in an age-dependent manner by modulating inflammatory cells and oxidative stress in mice.
58 citations
,
July 2018 in “Journal of Allergy and Clinical Immunology” Alopecia areata severity is linked to increased TH1 and TH2 activity.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
6 citations
,
October 2017 in “Oncotarget” In this study, NIH hairless mice showed increased susceptibility to Listeria monocytogenes infection compared to NIH mice, potentially due to differences in gut microbiota and monocyte levels.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
December 2024 in “Kufa Medical journal” The study reported that patients with alopecia areata had significantly higher serum levels of IL-17A and IL-2 compared to healthy controls, suggesting these interleukins may play an important role in the disease, though they did not correlate with its severity or duration.
January 2022 in “The Egyptian Journal of Hospital Medicine” This study found that higher serum IL-21 levels may serve as a promising diagnostic and prognostic marker for alopecia areata, strongly correlating with disease activity.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
June 2026 in “JEADV Clinical Practice” This review synthesizes cases of biopsy-confirmed alopecia areata occurring in patients using IL-17 or IL-23 inhibitors, suggesting the need for increased awareness and further investigation into this rare adverse event.
4 citations
,
January 2023 in “Frontiers in Immunology” In this Mendelian randomization study, shortened leukocyte telomere length was associated with an increased risk of androgenetic alopecia, but no causal relationship was found with alopecia areata.
October 2021 in “Postepy Dermatologii I Alergologii” In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.
30 citations
,
July 2019 in “PloS one” This study found that T-regulatory cells, specifically the FOXP3 CD39 subset, were significantly reduced in both circulation and hair follicles of alopecia areata patients compared to healthy subjects, suggesting potential therapeutic targets.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
15 citations
,
April 2003 in “Journal of Dermatological Science” This study found no significant associations between the polymorphisms of SRD5A1 and SRD5A2 genes and androgenetic alopecia, clinical types of baldness, or response to finasteride in Koreans.
1 citations
,
September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
77 citations
,
June 2002 in “Journal of Investigative Dermatology” CD44 variant changes start alopecia areata, but don't maintain it.
5 citations
,
March 2021 in “F1000Research” This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.
August 2026 in “Ebers Papyrus” 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.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” This study suggests that genetic variations in the AMH signal pathway may be linked to susceptibility and phenotype variations in PCOS among women with insulin resistance.
45 citations
,
November 2012 This review discusses the association between androgen receptor gene polymorphism and PCOS, reporting mixed findings on whether shorter or longer CAG repeats are linked to the disorder; it provides no new results and calls for further studies.
1 citations
,
May 2023 in “Frontiers in Pharmacology” In this study, a case of a young Chinese female with a specific NUDT15 genetic variant experienced severe azathioprine-induced myelosuppression and alopecia while treating systemic lupus erythematosus, highlighting the need for routine blood monitoring during treatment to manage AZA intolerance associated with genetic factors.