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.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” This study found that Celsr1, not Celsr2, is the primary protein involved in establishing planar cell polarity and hair follicle polarization in the epidermis of mice.
November 2022 in “Journal of Investigative Dermatology” This study found that the cytoplasmic dynein component Dynlt3 is essential for effective melanosome transport and transfer in mouse melanocytes, linking melanosome positioning and acidity to the Wnt/β-catenin signaling pathway.
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.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
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.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
64 citations
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April 1992 in “Differentiation” This study identified Sciellin, a new protein precursor to the cornified envelope in keratinocytes, with unique solubility properties hinting at its potential role in envelope assembly.
56 citations
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October 2007 in “Journal of Biological Chemistry” This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.
January 2016 in “Institutional Repositories DataBase (IRDB)” This study examined the expression of fatty acid transporters and binding proteins in mouse sebaceous glands and found that CD36 did not affect the localization of other related molecules.
73 citations
,
June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
845 citations
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February 2001 in “The Journal of Clinical Endocrinology & Metabolism” This study identified the presence of the enzyme 1 alpha-hydroxylase in various extrarenal tissues, suggesting its potential role in modulating vitamin D function in peripheral tissues.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
324 citations
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May 2002 in “Oncogene” 93 citations
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March 2017 in “Molecular Plant” This study concluded that CNGC14 is a calcium-permeable channel crucial for polarized tip growth in Arabidopsis root hairs, but other channels may also influence the observed calcium influx.
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.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
1 citations
,
February 1991 in “Journal of Biological Chemistry”
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
17 citations
,
February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
49 citations
,
November 2013 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that 1,25-dihydroxyvitamin D3/VDR inhibits β-catenin's role in keratinocyte proliferation but enhances its role in hair follicle differentiation.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
8 citations
,
September 2017 in “Journal of Investigative Dermatology” This study found that inhibiting the interaction between CXXC5 and Dishevelled could stimulate hair regrowth in mouse models by enhancing WNT/β-catenin signaling, suggesting a potential therapeutic strategy for hair loss involving compounds that block this interaction, such as interfering short peptides.
40 citations
,
March 1991 in “Journal of Investigative Dermatology” 9 citations
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August 2021 in “Biomedicines” This study found that 17β-estradiol was the most powerful hormone for inducing APE1/Ref-1 secretion in cultured vascular endothelial cells, with secretion occurring through exosomes dependent on estrogen receptors and intracellular calcium.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
9 citations
,
January 2023 in “International Journal of Biological Sciences” This study suggests that CTHRC1, a protein expressed in cardiac fibroblasts, may improve wound repair and prevent cardiac rupture after myocardial infarction by activating a specific signaling pathway.