5 citations
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May 2024 in “Developmental Cell” Lower GATA3 levels in mice help hair regrow by changing certain immune cells.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
56 citations
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October 2007 in “Journal of Biological Chemistry” This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
7 citations
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February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
8 citations
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June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
16 citations
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August 2017 in “Lupus” This case report and literature review highlights an unusual acne-like presentation of chronic cutaneous lupus erythematosus that doesn't improve with standard acne treatments, emphasizing the importance of considering CCLE in atypical acneiform eruptions.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
8 citations
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February 2024 in “Matrix Biology”
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
April 2024 in “Journal of microbiology and biotechnology” The authors will correct the table to show the right antibody information.
7 citations
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April 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study reports the development of a novel protocol to purify human TRPV3 ion channels, revealing functional properties and differences in ligand interactions, enabling further structural and functional research.
3 citations
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January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
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.
27 citations
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This case report suggests that in African-American patients, the histology of Central Centrifugal Cicatricial Alopecia may resemble lichen planopilaris, indicating a potential diagnostic challenge.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
165 citations
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September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
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 2019 in “Proceedings for Annual Meeting of The Japanese Pharmacological Society” In this study, injecting Nε-(carboxymethyl) lysine into skin tissue weakened hair shaft and follicle formation, likely by inhibiting cell proliferation and migration needed for hair follicle morphogenesis.
23 citations
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February 2015 in “International Journal of Molecular Sciences” This study found that colchicine treatment significantly reduced hair fiber elongation in cultured hair follicles and altered protein expression and activity in dermal papilla cells, suggesting a role for the ubiquitin-proteasome system in its effects.
18 citations
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May 2011 in “Journal of Investigative Dermatology” Wnt signaling affects the development and growth of Langerhans cells in mice.
555 citations
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July 2001 in “Genes & Development” This study found that Tcf3 and Lef1 differently regulate cell differentiation in multipotent skin stem cells, with Tcf3 promoting follicle-like features and Lef1, when modified, promoting sebocyte differentiation.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.