April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
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.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
1 citations
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June 2007 in “Journal of Clinical Oncology” This study found that weekly low-dose bicalutamide was safe and appeared to be associated with high-grade PIN remission and favorable PSA modulation in subjects with persistently elevated PSA but negative biopsy.
September 2024 in “Genes” This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.
January 2026 in “International Journal of Biological Macromolecules”
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
March 2026 in “Folia Histochemica et Cytobiologica” This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
June 2023 in “Journal of Burn Care & Research” This study found that combining bone marrow aspirate concentrate with platelet-rich plasma significantly improved wound healing in mice compared to other treatments.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
21 citations
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September 2010 in “Cancer Prevention Research” This study suggests that IGFBP-2 may play a role in basal cell carcinoma development by mediating epidermal progenitor cell expansion in hair follicles with activated Shh signaling.
10 citations
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May 2016 in “Journal of Dermatological Science” This study found that PDGF-BB affects human melanocytes differently depending on their differentiation stage, stimulating melanoblast proliferation but inhibiting melanocyte proliferation while promoting their differentiation.
1 citations
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April 2008 in “Progrès en Urologie” Systematic end-of-trial biopsies are the most reliable way to assess outcomes.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
26 citations
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August 2019 in “Stem Cell Research & Therapy” This study found that PBX1 enhances the proliferation and reprogramming of hair follicle mesenchymal stem cells by activating the AKT/GSK3β signaling pathway, promoting NANOG expression, and inhibiting apoptosis.
27 citations
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January 2016 in “Cellular Physiology and Biochemistry” This study found that the extract of Bidens pilosa L. improved dry eye symptoms associated with androgen deficiency in rats by enhancing tear production, stabilizing the tear film, and reducing lacrimal gland inflammation.
34 citations
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April 1982 in “BMJ”
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
18 citations
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December 2009 in “Canadian Journal of Animal Science” This study reports that BMP2 expression in goat skin is higher during late telogen and early anagen phases, indicating a potential role in hair follicle regeneration.
46 citations
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November 2022 in “The Journal of Dermatology” This review discusses recent findings on the mechanisms driving bullous pemphigoid, highlighting epitope spreading and the roles of regulatory T cells, and reports no new experimental results.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
September 2026 in “Stem Cell Reviews and Reports” Bulge progenitor cells show promise for regenerating hair follicles and increasing hair density.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
November 2024 in “Journal of Investigative Dermatology” Bimekizumab quickly improves psoriasis symptoms and skin at the molecular level.
September 2023 in “Journal of the American Academy of Dermatology” In this study of pediatric melanocytic lesions, researchers at Massachusetts General Hospital observed no concurrent BAP1 loss and BRAFV600E positivity, characteristics of adult BIMT, suggesting that these tumors may develop at a later age rather than in childhood.
11 citations
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March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
This case report describes perifollicular melanocyte regeneration in the affected skin of a patient with bullous pemphigoid, highlighting an underreported aspect of the condition in skin of color patients, and emphasizing the need for increased awareness and earlier diagnosis in this demographic.
5 citations
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September 2010 in “Cancer Prevention Research” This perspective discusses Villani et al.'s findings on the role of the IGF regulatory protein Igfbp2 in basal cell carcinogenesis and highlights potential therapeutic and preventive targets, while raising questions about the cell of origin.