15 citations
,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses the potential of induced pluripotent stem cells (iPSCs) for generating skin components, particularly for genetic skin disorder modeling and gene-corrected regenerative therapies, but reports no new clinical results.
This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
19 citations
,
June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
15 citations
,
May 2017 in “Journal of Cellular Biochemistry” This review discusses the role of the hairless protein (HR) in alopecia and cancer, noting its potential importance in cancer cell growth and survival, and reports no new experimental results.
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.
March 2026 in “Dermatopathology” This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.
April 2025 in “BMC Urology” This case report highlighted a rare occurrence of both adrenocortical carcinoma and uric acid kidney stones in a 5-year-old boy, with hormonal levels and clinical symptoms returning to normal after treatment and no recurrence over four years, emphasizing comprehensive endocrine evaluations in pediatric ACC management.
September 2022 in “Scientific Reports” This study found that scalp melanoma often occurs in areas with androgenetic alopecia, and patients without alopecia might experience a later diagnosis due to hair coverage, leading to potentially worse outcomes.
35 citations
,
August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
21 citations
,
July 2022 in “Orphanet journal of rare diseases” This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.
5 citations
,
December 2021 in “Frontiers in Cell and Developmental Biology” This review outlines how peptidyl arginine deiminases (PADIs) and protein citrullination are involved in hair follicle regeneration and inflammatory alopecia, but presents no new clinical findings.
2 citations
,
July 2023 in “Water” In this study, the genotoxic effects of the 2020 harmful algal bloom event were linked to specific toxic algal groups affecting Tradescantia plants, making Trad-SHM and Trad-MN tests suitable for evaluating HABs' toxic potential.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
12 citations
,
January 2009 in “Stembook” This review addresses the limitations of current engineered skin substitutes for burn patients and highlights potential improvements through stem cell biology and skin morphogenesis, but it reports no new clinical results.
17 citations
,
September 2019 in “Journal of Cell Biology” This study found that despite carrying an activating Hras mutation, hair follicle stem cells integrate into normal skin without causing tumors, unlike similar mutations in the epidermis, suggesting unique tumor-suppressing mechanisms in hair follicles.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
June 2012 in “Expert Review of Dermatology” Japanese researchers created new hair follicles from human cells that grew hair when put into mice, and other findings showed a link between eye disease severity and corneal thickness, gene mutations affecting hearing and touch, and the safety of the shingles vaccine for adults over 50.
5 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This review reports two new cases of porokeratotic eccrine and hair follicle nevus and analyzes all known cases in the Spanish and English literature, suggesting a link to a GJB2 gene mutation.
70 citations
,
January 2014 in “International review of cell and molecular biology” This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.
18 citations
,
February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
13 citations
,
October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
5 citations
,
August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
2 citations
,
August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
29 citations
,
October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.