6 citations
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March 2018 in “The American journal of dermatopathology/American journal of dermatopathology” This study found that immunohistochemistry can effectively distinguish between tricholemmoma and basal cell carcinoma, with BerEP4 and CD34 serving as key differentiators.
July 2026 in “Journal of Investigative Dermatology” This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This study suggests that alkaline phosphatase-regulated expression of CCL5 contributes to the trichogenicity of human dermal papilla spheres.
7 citations
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July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
41 citations
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April 2019 in “PLOS genetics” This study found that CD34- melanocyte stem cells regenerated pigmentation more efficiently, while CD34+ cells showed potential for neuron myelination, suggesting different therapeutic applications for each population.
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.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
28 citations
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January 2013 in “Stem cells” This study found that the CD44(+) ALDH(+) population of neonatal human keratinocytes exhibited enhanced stem cell properties, including significantly increased long-term epidermal regeneration and multipotency, compared to unfractionated cells.
April 2026 in “Frontiers in Cell and Developmental Biology” This study found that CD200-negative human hair follicle bulge cells have a higher hair-regenerative capability compared to CD200-positive cells, suggesting that reduced CD200 expression may enhance hair regeneration, providing insights for improving bulge cell-based hair restoration techniques.
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.
November 2022 in “Journal of Investigative Dermatology” This study generated a transcriptomic map of human hair follicle compartments, providing a database for identifying compartment-specific gene expression which may aid in developing targeted treatments for hair follicle disorders.
3 citations
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January 2020 in “Indian Journal of Dermatology” This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
4 citations
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November 2016 in “Journal of Cutaneous Pathology” This letter discusses three plasmacytoid dendritic cell-related parameters that may help differentiate lupus alopecia from lichen planopilaris, but it reports no new study results.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
7 citations
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May 2021 in “EBioMedicine” This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
1 citations
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February 2025 in “Scientific Reports” In this study, researchers found that CD4 is expressed on murine K5+ keratinocytes, and its expression is crucial for maintaining epidermal stem cell balance and wound repair capacity, particularly during aging.
January 2021 in “Research Square (Research Square)” This study mapped copy number variations in Chinese fine-wool sheep, identifying regions linked to important traits like milk production and growth, and highlighting a strong selection signal at the RXFP2 gene.
20 citations
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May 2016 in “Journal of Cutaneous Pathology” This study suggests that the presence and arrangement of plasmacytoid dendritic cells can help distinguish chronic cutaneous lupus erythematosus from other types of scarring alopecia.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
September 2023 in “Frontiers in cell and developmental biology” This study found that a catalytically active version of Vav2 significantly altered gene expression patterns in hair follicle stem cells in mice, with these changes varying over the animals' lifespans.
60 citations
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January 2021 in “BMC Genomics” This study mapped genomic copy number variation in Chinese fine-wool sheep, identifying genes involved in sensory perception, nutrient metabolism, growth, and development, and highlighting significant selection on the RXFP2 gene.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
December 2025 in “International Journal of Surgery” In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.