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.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
10 citations
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May 2019 in “BMC Complementary and Alternative Medicine” This study found that Bacillus/Trapa japonica fruit ferment filtrate extracts enhanced human hair follicle dermal papilla cell proliferation through the Akt/ERK/GSK-3β signaling pathway, suggesting potential benefits for alopecia treatment.
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.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
10 citations
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August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
119 citations
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September 2000 in “Journal of Biological Chemistry” This study found that the K19 promoter is active in certain gastrointestinal cancer cells and its activity is influenced by the interaction between GKLF and Sp1 transcription factors.
March 2022 in “Oncology Times” In this study, tebentafusp-tebn improved overall survival in patients with metastatic uveal melanoma compared to standard therapies, despite higher rates of significant adverse events.
56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
December 2022 in “Journal of neurodevelopmental disorders” This study observed that repeated hair follicle sampling is feasible and reliable for measuring FMR1 mRNA and FMRP in individuals with Fragile X syndrome, supporting its use in longitudinal studies.
February 2024 in “Skin research and technology” The researchers in this study identified molecular mechanisms involved in frontal fibrosis alopecia, highlighting immune response and fatty acid metabolism, and developed a four-gene diagnostic model showing high accuracy in distinguishing affected individuals from controls.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
40 citations
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May 2005 in “Journal of Cell Science” In this study, transgenic mice expressing a truncated form of latent transforming growth factor-β-binding protein exhibited altered hair cycles due to increased active transforming growth factor-β, impacting keratinocyte proliferation and hair cycle phases.
26 citations
,
June 2003 in “PubMed” In this study, severe hair loss occurred in PKC epsilon transgenic mice treated with DFMO during skin tumor prevention, highlighting a link between polyamine biosynthesis, hair follicle maintenance, and metastasis suppression.
44 citations
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August 1990 in “PubMed” This study provides evidence for K1 and K10 derivatives' presence in the inner root sheath and hair cuticle, suggesting that these hair follicle parts may follow familiar keratinization principles.
November 2019 in “British Journal of Dermatology” FOL-005 peptide may help treat excessive hair growth safely.
14 citations
,
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.
38 citations
,
January 2014 in “Journal of Dermatological Science” This study found that Krtap11-1 may play an important role in keratin-bundle assembly in the hair cortex, influencing the physical properties of hair.
66 citations
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June 2004 in “Development” This study found that FGF signaling is necessary for the initiation of feather placode development in chicken embryos, with FGF10 being implicated as an early dermal signal in the process.
115 citations
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March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
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.
46 citations
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June 2013 in “Journal of structural biology” This study suggests that the mechanical robustness of hair may be enhanced by the binding interactions of keratin-associated proteins, particularly KAP8.1, with intermediate filament proteins.
158 citations
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February 2012 in “Journal of Investigative Dermatology” FGF18 helps keep hair in its resting phase, affecting hair growth cycles.
6 citations
,
July 2017 in “Clinical and Experimental Dermatology” This report presents four new cases of follicular porokeratosis, which exhibit distinct histological features where the cornoid lamella are confined to the follicular ostia.
71 citations
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August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.
13 citations
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July 1994 in “PubMed” This study found that TPA treatment induced expression of keratins K6 and K16 in mouse epidermis, with K6 expressed across all cell layers and K16 only in post-mitotic cells.
15 citations
,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.