6 citations
,
July 2013 in “Archives of Plastic Surgery” This article explains that proliferating trichilemmal tumors, originating in the hair follicle, can exhibit low-grade malignant potential, and recommends wide excision to minimize recurrence risk, but reports no new clinical findings.
9 citations
,
May 2022 in “Actas Dermo-Sifiliográficas” This study found that basal cell carcinoma exhibits altered expression patterns of CD10, p63, BCL-2, and EMA proteins compared to normal skin, with notable differences in staining and reactivity.
July 2026 in “Pathology - Research and Practice” 9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
This study found significantly higher P-Smad2 levels in both lesional and nonlesional skin of organ transplant recipients, suggesting elevated TGF-β signaling might contribute to their increased cancer susceptibility.
8 citations
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June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
This study found that chemically induced skin tumors in mice predominantly originated from Lgr6 + and/or Lrig1 + stem cells of the upper hair follicle rather than from other stem cell populations.
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.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study on adult-onset, whole body Spry1/2/4 triple knockout mice, researchers observed endocrine abnormalities and no increased tumor incidence, despite similar food intake and motor function.
60 citations
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February 2013 in “Cell reports” This study demonstrates that c-MYC overexpression in sebaceous glands affects differentiation via a regulatory axis involving the androgen receptor and p53, influencing carcinoma formation outcomes.
13 citations
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April 2019 in “iScience” In this study, researchers observed that EGFR deficiency in the epidermis affects gene expression related to cell differentiation and structure, highlighting spatial and temporal roles of EGFR during skin and hair follicle development.
This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
October 2014 in “Cancer research” This study found that targeting mTORC1 with rapamycin effectively inhibited skin tumor promotion in a mouse model, highlighting a potential target for cancer chemoprevention.
28 citations
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December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
47 citations
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April 2012 in “The Plant Journal” This study found that mutations in phosphorylation sites on the PIN3 protein disrupt its phosphorylation and subcellular trafficking, affecting auxin transport and root growth in a cell-type-specific manner.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.
3 citations
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April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study found that certain Y-chromosome alleles may influence susceptibility to prostate cancer among Iraqi males, suggesting potential genetic screening markers for the disease.
3 citations
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January 1989 in “The Nishinihon Journal of Dermatology” This case report describes a proliferating trichilemmal cyst that underwent malignant transformation, with specific keratins identified in the tumor but no epidermal keratin detected.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
4 citations
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July 2024 in “Radiotherapy and Oncology” This study highlights that variations in clinical outcome reporting can undermine the validation of NTCP models for RIA, stressing the need for a standardized and objective scoring system.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
37 citations
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April 2010 in “FEBS Letters” In this study, researchers reported that the activation of EDA2R by p53 leads to p53-dependent cell death in cancer cells and is involved in chemotherapy-induced hair loss.
April 2010 in “Cancer Research” In this study, Stat3 activation in transgenic mice led to a decrease in stem cells in the hair follicle bulge, suggesting its crucial role in epidermal growth and stem cell maintenance.
68 citations
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September 2003 in “British Journal of Dermatology” This study found that in thin cutaneous melanomas, tumor regression is associated with a higher risk of sentinel lymph node involvement.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
2 citations
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January 2018 in “Open journal of stomatology” This study found that trichohyalin is expressed in cancerous tongue epithelial cells, while plectin-1 expression may indicate malignancy.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.
29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.