1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
10 citations
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August 2022 in “Bulletin of Mathematical Biology” This study demonstrated that the Turing bifurcation, typically a pitchfork bifurcation under zero-flux conditions, becomes transcritical under fixed boundary conditions, highlighting the importance of considering boundary condition variations in morphogenetic analyses.
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
7 citations
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August 2016 in “Nursing for Women's Health” This article reviews the issue of hair-thread tourniquets in infants, emphasizing the importance of awareness for timely diagnosis and suggesting prevention strategies, but reports no new clinical results.
September 2013 in “Metal Powder Report” This study found that dihydrotestosterone induces hair loss in male C57BL/6 mice, and this effect can be partially reversed by the androgen receptor antagonist bicalutamide.
288 citations
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January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
17 citations
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November 2017 in “PLoS ONE” This study observed dynamic behaviors such as cluster formation, migration, and active proliferation of transplanted bone marrow cells in a mouse model, providing insight into cellular-level changes post-transplantation.
176 citations
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January 2003 in “Journal of Investigative Dermatology” This review summarizes the roles of bone morphogenetic proteins in the development and regulation of normal and diseased skin, but it does not provide new clinical results.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
January 2026 in “Biochemical Pharmacology”
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
January 2026 in “International Journal of Biological Macromolecules” 18 citations
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April 2016 in “Molecular Genetics and Genomics” This study suggests that thymosin beta 4 may regulate hair growth by influencing VEGF and MMP-2 levels through the Wnt/β-catenin/Lef-1 signaling pathway in mouse models.
November 2013 in “Hair transplant forum international” This article discusses categorization changes for Hair Transplant Surgeon members at the British Association of Hair Restoration Surgery and reports no clinical outcomes.
33 citations
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May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
1 citations
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July 2020 in “International journal of radiology & radiation therapy” This study found that VMAT hair-sparing WBRT partially preserved scalp hair at four weeks post-treatment without compromising symptomatic disease control in the short term, but reduced hair loss did not improve quality of life.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
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.
14 citations
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December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
June 2021 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The researchers reported that basement membrane heterogeneity, especially laminin α5 composition, plays a critical role in distinct inter-tissue interactions and hair cycle regulation in mouse hair follicles.
October 2025 in “Indian Journal of Dermatology” This study examined the dermoscopic features of five patients with tuberous sclerosis and found that dermoscopy can differentiate characteristic cutaneous features from similar conditions, potentially aiding in earlier diagnosis when other symptoms are subtle or absent.
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.