7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” This study found that PRMT5 inhibitors showed potent anti-tumor activity in models of adenoid cystic carcinoma and that combining these inhibitors with lenvatinib may have additional growth-inhibitory effects.
28 citations
,
January 2005 in “Photochemistry and Photobiology” This study found that overexpression of PKCepsilon in mouse epidermis was associated with increased susceptibility to metastatic squamous cell carcinoma, potentially through a mechanism involving tumor necrosis factor-alpha.
2 citations
,
November 2006 in “Pump Industry Analyst” This study found that pilomatricomas exhibit co-expression of hair keratin hHa5 and HOXC13 in lower transitional cells, but lack LEF1 and β-catenin co-expression necessary for canonical Wnt signaling pathway-controlled cortical differentiation.
July 2017 in “Cancer Research” This study identified a radio-resistant population of Krt15+ stem cells in the mouse small intestine that can initiate tumors, suggesting potential targets for colon cancer therapy.
54 citations
,
May 1994 in “Veterinary Pathology” This study found widespread localization of parathyroid hormone-related protein in normal and cancerous canine tissues, suggesting a potential physiological role as a paracrine or autocrine factor.
3 citations
,
September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
25 citations
,
April 2015 in “Journal of Investigative Dermatology” This study found that Gsdma3 mutation in mice allows hair follicles to bypass a typical telogen phase and directly enter the anagen phase, suggesting Gsdma3's role in hair cycle transitions by regulating Wnt signaling.
September 2023 in “Journal of the American Academy of Dermatology” CTP-543 is generally safe for treating alopecia areata.
6 citations
,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.
February 2022 in “Research Square (Research Square)” This study found that high TSPEAR expression in colorectal cancer was associated with poor prognosis and correlated with various tumor and immune-related factors.
16 citations
,
January 1998 in “PubMed” This review discusses the genetic and environmental factors involved in the development of skin cancers like squamous cell carcinoma, basal cell carcinoma, and melanoma, but does not report new clinical findings.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers using live mice observed that oncogenic Kras mutation disrupts hair follicle architecture by sustaining ERK signal activation, which affects stem cell behavior and tissue integrity.
1 citations
,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” This letter to the editor shares a case study of lentiginous melanoma that appears clinically malignant but histopathologically benign, involving the BRAFV600R mutation.
10 citations
,
November 2021 in “PLoS ONE” This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.
20 citations
,
September 2010 in “Cell Cycle” This study reports that in MRL mice, loss of p53 does not impair ear regeneration, suggesting p21's potential role in this process may involve the Tgfb/Smad pathway.
26 citations
,
January 1992 in “Carcinogenesis” This study suggests that chronic treatment with TPA in mouse skin selectively expands a keratinocyte subpopulation hyperinducible for ODC, which may be a key target for neoplastic transformation.
2 citations
,
June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
77 citations
,
January 1980 in “Carcinogenesis” This study found that TPA was significantly more effective than mezerein in inducing dark basal keratinocytes in mouse skin, which may be important in early tumor promotion stages.
2 citations
,
February 2023 in “Transgenic Research” In this study, the presence of the HPV11-E2 protein in transgenic mice was found to increase and vary the expression of a reporter gene in hair follicle bulge regions.
2 citations
,
March 2024 in “Pediatric Dermatology” This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
13 citations
,
November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
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.
75 citations
,
June 2007 in “Journal of Biological Chemistry” This study found that the combination of MT-DADMe-ImmA and MTA selectively induced apoptosis in head and neck squamous cell carcinoma cell lines FaDu and Cal27, but not in normal fibroblasts or MTAP-deficient breast cancer cells.
This study found that selectively inactivating ribonucleotide excision repair in mouse epidermis leads to DNA damage, keratinocyte intraepithelial neoplasia, and squamous cell carcinoma, indicating a potential tumor-promoting mechanism related to compromised genome maintenance.