14 citations
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July 2021 in “Bioinformatics” This study demonstrates the use of rPanglaoDB, an R package for combining public single-cell datasets, to create the first unbiased transcriptome profile of fibrocytes, revealing their role in tissue healing.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 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.
16 citations
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December 2018 in “ACS Biomaterials Science & Engineering” This research found that a biodegradable fibrous membrane incorporating fibroblast-derived ECM accelerated wound healing and improved neovascularization in a mouse model.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
5 citations
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January 2015 in “Case reports in medicine” 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.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
43 citations
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January 2016 in “Development” This study identified a critical NF-κB-LHX2-TGFβ2 signaling pathway essential for primary hair follicle development in mice, revealing new insights into the underlying mechanisms of morphogenesis.
25 citations
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January 2014 in “Annals of Dermatology” Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
Lichen planopilaris and frontal fibrosing alopecia are likely the same disease with different clinical appearances.
99 citations
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May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
February 2025 in “Archives of Dermatological Research” This study observed that fibrosing alopecia in a pattern distribution shows varied histological features and may resemble lichen planopilaris with initial diffuse distribution, potentially leading to scarring alopecia.
49 citations
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January 2003 in “Clinical and Experimental Dermatology” This report from the UK reviews the literature on post-menopausal frontal fibrosing alopecia and highlights its under-recognition and distinctive characteristics compared to lichen planopilaris, but does not provide new results.
May 2022 in “The FASEB Journal” This experimental study suggests that finasteride may reduce Lymphocyte Specific Protein 1 gene expression through methylation in human Leydig cells, potentially offering a pathway for treating Neutrophil Actin Dysfunction.
29 citations
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January 2020 in “Frontiers in endocrinology” This paper considers fibrodysplasia ossificans progressiva as a segmental progeroid syndrome, which may help uncover mechanisms of normal aging and suggest targets for new treatments.
1 citations
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May 2022 in “International journal of molecular sciences” 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.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
22 citations
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April 2013 in “International Journal of Dermatology” Frontal fibrosing alopecia can occur with lichen planus pigmentosus, needing careful diagnosis and treatment.
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.
January 2022 in “SSRN Electronic Journal” This study found that lncRNA RP11-818024.3 transfection promoted hair growth in AGA mice and increased cellular proliferation in vitro, potentially involving the FGF2 and PI3K-Akt pathways.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
28 citations
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October 2014 in “Development” This study revealed that frizzled 3 can fully rescue polarity defects in frizzled 6-null mice, while frizzled 6 can partially rescue defects in frizzled 3-null mice, highlighting conserved signaling roles in these proteins.
April 2023 in “Journal of Investigative Dermatology” This study reports distinctive clinical, trichoscopic, and histopathological features of fibrosing alopecia in a pattern distribution among Chinese patients, suggesting possible racial differences compared to previous studies primarily involving Caucasians.
The researchers reported that PEG-FGF2 conjugates, particularly Compound 6, significantly enhanced stability, proliferation, migration, and wound healing activity compared to native FGF2, despite some reduction in bioactivity near crucial binding domains.
March 2026 in “Egyptian Journal of Forensic Sciences” This review critically examines Forensic DNA Phenotyping, highlighting high accuracy in predicting certain traits but also legal and ethical challenges, particularly around regulatory fragmentation and issues of genetic privacy.
February 2013 in “Journal of the American Academy of Dermatology”
February 2024 in “Skin research and technology” The researchers in this study identified molecular mechanisms involved in frontal fibrosis alopecia, highlighting immune response and fatty acid metabolism, and developed a four-gene diagnostic model showing high accuracy in distinguishing affected individuals from controls.
89 citations
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February 2002 in “Australasian journal of dermatology” This case report describes the first known instance of fibrosing alopecia associated with cutaneous lichen planus, suggesting fibrosing alopecia may be a variant of lichen planopilaris.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.