January 2026 in “Therapeutics” This study found that SCUBE3 protein is upregulated in various cancers, promoting tumor growth and poor outcomes, while suppressing growth in renal cell carcinoma, and may serve as a diagnostic marker and potential therapeutic target for several diseases due to its secreted nature.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
7 citations
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August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
February 2026 in “Advanced Science” This study found that targeting the p300/androgen receptor axis effectively reduced AR activation and ovarian fibrosis in mouse models of polycystic ovary syndrome, suggesting a potential therapeutic approach.
70 citations
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August 2006 in “Cancer Research” This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.
August 2018 in “Journal of Investigative Dermatology” This study found that centrosomes, unlike cilia, are essential for proper epidermal and hair follicle development in mice, with these effects being dependent on the presence of p53.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.
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.
137 citations
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October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
April 2016 in “Journal of Investigative Dermatology” This study found that Sonic hedgehog signaling is crucial for Merkel cell development around hair follicles in mice, with Polycomb repressive complex 2 loss causing ectopic Merkel cells across all hair types.
19 citations
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November 2016 in “Developmental Biology”
17 citations
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December 2006 in “Gene Expression Patterns” This study reports that the mouse Scube3 gene is expressed in various tissues during embryonic development, including the neural tube, limb buds, developing tooth, hair follicle, and skeletal regions.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” This study found no qualitative skin differences during development between mutant hairless USP mice and BALB/c mice, except for enlarged cysts in the hairless strain.
119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
165 citations
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September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
September 2024 in “Genes” This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.
10 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
July 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a potent Wnt surrogate with high specificity for the Fzd7 receptor in mice, promoting full hair follicle regeneration and robust hair growth, suggesting potential applications in tissue development and targeted regeneration.
This study identified UBC22 as a novel E2 enzyme responsible for Lys11-linked ubiquitination in Arabidopsis, revealing its crucial roles in seed setting, female gametophyte development, and pathogen resistance.
3 citations
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July 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that K17−/− mice suffered more severe hair follicle damage but showed reduced epidermal inflammation after ionizing radiation, with K17's absence leading to aberrant cell cycle progression due to altered p53 genome binding and reduced B-Myb degradation.
26 citations
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February 1998 in “DNA and Cell Biology” This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.
9 citations
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November 2013 in “Journal of Investigative Dermatology” This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
10 citations
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September 2022 in “Cellular and Molecular Life Sciences” This review discusses the roles of the transcription factor SOX9 in organ development and maintenance, providing insights into its regulation and diverse functions, but reports no new experimental results.