3 citations
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March 2017 in “Pediatric Dermatology” This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
30 citations
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October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
21 citations
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January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
20 citations
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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.
2 citations
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July 2023 in “International Journal of Molecular Sciences” This study found that applying a formulation derived from Bacopa procumbens significantly promoted hair growth, pigmentation, and follicular cycle acceleration in mice compared to minoxidil, potentially offering a new therapeutic approach for hair health.
27 citations
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October 1998 in “Differentiation” Basonuclin helps identify and track hair follicle development and cycling in mice.
January 2026 in “Indian Journal of Paediatric Dermatology” This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.
March 2026 in “Journal of Investigative Dermatology” Folliculin slows hair growth, and blocking it might help treat hair loss.
January 1998 in “Differentiation” Basonuclin is crucial for hair follicle development and cycling in mice.
7 citations
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September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
10 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.
17 citations
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July 2022 in “BMC Genomics” This study found that overexpression of the FA2H gene in cashmere goats' hair follicle cells may enhance hair proliferation and regulate genes affecting cashmere fineness.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
April 2018 in “Journal of Investigative Dermatology” This study found that Basonuclin 1 knockdown in human primary keratinocytes significantly reduces cell proliferation and affects migration, indicating its role in coordinating the re-epithelization phase of wound healing.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
2 citations
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May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that fibronectin is crucial for hair follicle stem cell function and regeneration, with its deletion impairing regeneration but restoration by dermal injection of exogenous fibronectin.
36 citations
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September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
58 citations
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April 1993 in “Developmental Biology” This study found that subcutaneous injections of basic fibroblast growth factor in neonatal mice delayed the development and hair growth cycles of hair follicles compared to controls.
24 citations
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July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
11 citations
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August 2019 in “Journal of Molecular Histology” This study found that upregulation of NFIC may enhance proliferation and osteogenic/cementogenic differentiation in rat dental follicle cells.
5 citations
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June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
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.
This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
August 2025 in “Journal of Investigative Dermatology” Fibronectin is essential for hair follicle regeneration and may help rejuvenate aged skin.