171 citations
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June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
17 citations
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August 2015 in “Journal of Animal Science” In this study, researchers found that specific SNPs in the MTR gene are significantly associated with wool production and quality traits in Chinese Merino sheep, suggesting the gene's potential for sheep breeding.
3 citations
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December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
5 citations
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September 2021 in “Journal of Molecular Histology” In this study, the researchers identified LHX2 as a specific marker for hair follicle placodes, differentiating them from eccrine sweat gland placodes through double immunofluorescence staining.
9 citations
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July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
January 1999 in “Praxis sociológica” This study demonstrates that melanocyte stem cells can be a source of melanoma in a mouse model, resembling human melanoma in both heterogeneity and gene signatures.
70 citations
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December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
1 citations
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September 2015 in “Elsevier eBooks” This review discusses the role of Sox2 in skin development, hair follicle regeneration, cancer, and wound healing, and reports no new experimental results.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the efflux of calcium in root hairs of Arabidopsis thaliana, particularly through the ER-localized ACA2 and ACA7, is crucial for modulating cytoplasmic calcium signals and enabling proper root hair growth, with disruptions leading to impaired elongation.
226 citations
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May 2004 in “Journal of Biological Chemistry” This study identified collagen XXII as a novel extracellular matrix protein specifically present at tissue junctions, where it functions as a cell adhesion ligand for skin epithelial cells and fibroblasts.
51 citations
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February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
6 citations
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June 2021 in “Developmental biology” This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
January 2025 in “Dermatology Practical & Conceptual” In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
October 2023 in “Cell & bioscience” This study identified a primitive coarse wool characteristic in Merino sheep that enhances environmental adaptability and fine wool yield without reducing quality, suggesting that epigenetic mechanisms, particularly involving the imprinted Gtl2-miRNAs locus, regulate this advantageous trait.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
25 citations
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April 2019 in “Animals” In this study, KRTAP28-1 variants were associated with wool fibre diameter in sheep, suggesting potential as a gene marker for reducing fibre diameter.
11 citations
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May 2018 in “Frontiers in plant science” This study found that overexpressing the PCaP2 protein in Arabidopsis enhanced drought tolerance by influencing ABA and SA signaling pathways and regulating root hair growth, suggesting a key role in water deficit response.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
28 citations
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November 2013 in “Cell and Tissue Research” December 2022 in “Biochemical and Biophysical Research Communications” This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
November 2022 in “Gigascience” This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.