50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
12 citations
,
March 2021 in “Journal of Investigative Dermatology” TRPM5 is crucial for maintaining hair growth.
7 citations
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May 2022 in “Cancers” This study found that UC.145 influences DKK1 methylation and Wnt signaling in gastric cancer, with implications for patient survival and its potential as a predictive biomarker.
November 2025 in “The Journal of Immunology” This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.
60 citations
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March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
111 citations
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April 2000 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, physiological levels of free T3 significantly enhanced the survival of human hair follicles in vitro.
35 citations
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June 2012 in “PloS one” This study suggests that Keratin 15 expression in stratified epithelia may be regulated by two distinct mechanisms involving PKC/AP-1 pathway for differentiation and FOXM1 for basal cells, challenging its reliability as a sole stem cell marker.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
November 2025 in “Mendeley Data” This study observed that JAK inhibitors were safe and effective for patients with moderate-to-severe alopecia areata and comorbid latent hepatitis B or stable tuberculosis, with careful monitoring and selective prophylaxis.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
227 citations
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April 2023 in “The Lancet” Ritlecitinib effectively treats alopecia areata and is well-tolerated.
28 citations
,
November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.
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.
January 1993 in “Nihon Chikusan Gakkaiho” This research found that a monoclonal antibody (MAb 17) specifically reacts with certain subunits of trichocyte keratin in rats, and discovered that trichocyte keratin expression in hair and whiskers begins at different embryonic stages.
April 2026 in “Research Square” 29 citations
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October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
30 citations
,
June 2000 in “Journal of dermatological science” In this study, researchers found that keratinocytes are unlikely to be target cells for androgen, as shown by limited androgen receptor transcriptional activity in keratinocyte cells.
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.
11 citations
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September 2023 in “Nature Communications” In this study, researchers found that the cell surface protein Lrig1 plays a crucial role in regulating the suppressive function of regulatory T cells, suggesting it as a potential target for treating autoimmune diseases, as evidenced by experiments in mouse models.
February 2024 in “Biomedicines” This study found that NKB placental mRNA expression was higher in women with PCOS, particularly in pregnancies with female offspring, suggesting its involvement in PCOS-related placental dysfunction.
May 2026 in “Nature Communications” In this study, researchers identified that keloid fibroblasts respond to neurotransmitters from catecholaminergic nerves by producing bone matrix proteins, mediated by β1-adrenergic receptor activation, leading to fibro-osseous reprogramming; blocking this signaling in a rodent model prevented the development of keloid-like pathology.
3 citations
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July 2021 in “Life science alliance” This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.
January 2026 in “Dermatologic Therapy” This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
10 citations
,
November 2020 in “American Journal Of Pathology” The study suggests that integrin β1 is crucial for maintaining liver microstructure and its absence may promote fibrosis by disrupting hepatocyte-extracellular matrix interactions and increasing TGF-β secretion.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.
32 citations
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April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.