January 2015 in “CU Scholar (University of Colorado Boulder)” This research found that Foxc1 is critical for maintaining quiescence in activated hair follicle stem cells and that the cancer cell-of-origin influences tumor heterogeneity in mouse skin squamous cell carcinoma.
1 citations
,
December 2020 in “International journal of molecular sciences” This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
1 citations
,
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study created a detailed spatial atlas of healthy human skin and basal cell carcinoma, revealing a potential hair follicle origin for basal cell carcinoma and expansion of certain mesenchymal cell populations.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.
41 citations
,
April 2016 in “Journal of experimental botany” This research suggests that the barley protein RACB supports cell polarity functions rather than interfering with immunity, as it aids nucleus positioning during fungal attack rather than affecting early immune responses.
In preclinical studies, topical CUR61414 reduced Hh signaling and shrank BCCs in mice, but this study found no clinical efficacy in human superficial or nodular BCCs.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
7 citations
,
March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
January 2019 in “Publisher” This study found that human basal cell and squamous cell carcinomas have distinct gene expression patterns, with specific up-regulation of zinc finger encoding genes in basal cell carcinoma.
30 citations
,
October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
65 citations
,
March 2004 in “Journal of Clinical Investigation” In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
1 citations
,
January 1999 in “Proceedings of the British Society of Animal Science” This research investigates apoptosis and bcl 2 expression in hair follicles cultured with and without biotin, but it reports no new results.
33 citations
,
May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
10 citations
,
July 2013 in “British Journal of Dermatology” High MUC-18/MCAM levels in blood indicate a worse outlook for melanoma patients.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study used a novel fluorescent tagging method in mice to observe collagen IV dynamics during hair follicle development, revealing that alterations in basement membrane turnover can influence epithelial progenitor cell behavior and organ morphology by affecting cell proliferation and movement.
11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
48 citations
,
October 2004 in “Molecular and Cellular Biology” In this study, Brca1(S971A/S971A) mice showed a moderately increased risk of spontaneous tumor formation and defects in DNA damage response, suggesting CHK2 phosphorylation of BRCA1 is crucial for tumor suppression.
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.
This study found that inhibiting mTORC2 in glioblastoma cells reduced DNA repair and increased apoptosis, highlighting its potential role in cancer cell survival and DNA damage response.
4 citations
,
December 2023 in “Medicine” This study found that the genes MYLK and CALD1 were expressed at lower levels in bladder cancer and osteosarcoma tissues compared to normal tissues, and their expression levels appeared to correlate with poorer survival outcomes, suggesting they may be important in disease progression and prognosis.
89 citations
,
May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
April 1981 in “Pediatric research” This study found that abnormal liver and kidney copper metabolism in Br females had no clinical effects, whereas defective brain copper metabolism in Br males was clinically significant.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
June 2002 in “Science of aging knowledge environment” This study suggests that the oncogene c-Myc can induce DNA damage by increasing reactive oxygen species, potentially overriding p53 and contributing to genetic instability in cancer cells.
1 citations
,
April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study describes the use of a genetically engineered mouse model, mTurquoise2-Col4a1, to fluorescently label collagen IV and observe basement membrane dynamics during skin development, revealing its stability and pliability during rapid growth phases.
176 citations
,
February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.