5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
July 2023 in “New phytologist” This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
20 citations
,
July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
18 citations
,
August 2023 in “Journal of Cell Science” This review explores how metabolic changes drive cellular quiescence and considers potential applications in cancer treatment by manipulating these processes.
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.
13 citations
,
September 2022 in “Biomolecules” This study found that specific gene upregulations and mutations in hidradenitis suppurativa skin support the role of inflammation, altered epithelial differentiation, and metabolism dysregulation in the disease's pathogenesis.
April 2017 in “Journal of Investigative Dermatology” This study identified altered neurological pathways and potential drug targets involved in androgenetic alopecia, suggesting areas for future research and possible therapies.
1 citations
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November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that baricitinib can counteract the cytokine-driven reduction of the enzyme PADI1 in human keratinocytes, which may help improve skin barrier function in atopic dermatitis by enabling epidermal differentiation.
8 citations
,
July 2016 in “Oncotarget” This study reports that actively proliferating Lgr5+ stem cells in hair follicles do not appear to drive tumor formation in experimental skin carcinogenesis.
56 citations
,
April 2019 in “The Plant Journal” This study found that CNGC 6, CNGC 9, and CNGC 14 are crucial for maintaining calcium oscillations necessary for normal root hair growth in plants, with mutations leading to defects like swelling and bursting.
52 citations
,
January 2022 in “Current Research in Pharmacology and Drug Discovery” This review highlights ongoing efforts in drug repurposing and development of new therapeutics against COVID-19, emphasizing the promise of these strategies in addressing the challenges posed by SARS-CoV-2 mutations and post-infection complications.
21 citations
,
March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
5 citations
,
October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
3 citations
,
March 2025 in “Science Advances” This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
This study suggests that specific genetic changes, including mutations in protein-coding genes and noncoding regions, have contributed to the evolution of hairlessness in multiple mammalian species.
June 2021 in “Dermatology Online Journal” This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.
14 citations
,
April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
11 citations
,
May 2023 in “Journal of Cancer Research and Clinical Oncology” This review discusses various applications of CRISPR-based tools in cancer research, emphasizing their potential for investigating microRNA functions and developing microRNA-based therapies, despite challenges like off-target effects and delivery issues in using CRISPR/Cas9.
21 citations
,
February 2013 in “Clinics in Dermatology” This review discusses recent developments in targeted melanoma therapies, including BRAF/MEK/ERK pathway inhibitors and challenges like resistance and skin toxicities, but reports no new clinical results.
380 citations
,
March 2000 in “Proceedings of the National Academy of Sciences” This study demonstrates that mice with ectopic expression of the human GLI-1 gene in their skin developed tumors resembling human basal cell carcinoma, suggesting that GLI-1 is central to tumor development without additional p53 or Ha ras mutations.
144 citations
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August 2019 in “Cells” This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.
138 citations
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November 2015 in “Journal of Pharmacology and Experimental Therapeutics” This review discusses the mechanisms associated with protoporphyrin IX in living cells and reports no clinical results; the authors emphasize its potential in cancer diagnosis and the risks of toxicity.
105 citations
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October 2018 in “Nature” This study found that vismodegib promotes Basal cell carcinoma regression by inducing tumor differentiation but leaves a small population of quiescent cells that can drive relapse, which can be eliminated by adding a Wnt signaling inhibitor.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.
25 citations
,
May 2013 in “Journal of mammary gland biology and neoplasia” This review examines the roles of Hedgehog and Gli proteins in mouse embryonic mammary development and suggests that Gli3-repressor-mediated off-state of Hedgehog signaling determines mammary fate over hair follicle fate.