November 2025 in “Journal of Investigative Dermatology” TEC kinases may help cause inflammation in vitiligo and could be targeted for treatment.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
58 citations
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February 2013 in “Journal of Biological Chemistry” This study identifies specific molecular components involved in the intracellular trafficking of LGR5, revealing mechanisms that differ from typical GPCR recycling processes.
7 citations
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April 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study reports the development of a novel protocol to purify human TRPV3 ion channels, revealing functional properties and differences in ligand interactions, enabling further structural and functional research.
May 2022 in “The journal of immunology/The Journal of immunology” This study developed a foxn1-deficient Xenopus laevis model using CRISPR/Cas9, observing reduced T-cell markers and altered immune responses in tadpoles, providing a nonmammalian model for immunological research.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
6 citations
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December 2021 in “PLoS Genetics” This study found that PRC2 plays a non-instructive role in adult hair follicle stem cells, with its loss not affecting quiescence or cell identity, despite upregulation of genes linked to activation.
93 citations
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June 2011 in “Journal of Neuroscience” This study found that the transcription factor p63 is crucial for horizontal basal cell differentiation in the olfactory epithelium, suggesting a p63-dependent mechanism activates reserve stem cells after injury.
February 2026 in “Advanced Science” This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.
2 citations
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May 2023 in “International Journal of Molecular Sciences” This review discusses current knowledge about the TRPV3 ion channel's role in skin functions and diseases, highlighting its potential as a therapeutic target for pain and itch, though suitable ligands are limited.
4 citations
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January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.
February 2026 in “BMC Genomics” This study found that MEG3-miRNAs are key regulators of the age-dependent crimped wool trait in Tan sheep, likely influencing primary follicle development and degeneration through immune-inflammatory pathways.
14 citations
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June 2017 in “Immunity” This study found that skin-resident Treg cells regulate hair follicle stem cell proliferation and differentiation through the Jag1-Notch signaling pathway, influencing hair regeneration.
6 citations
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November 2021 in “Frontiers in immunology” This study suggests that STAT3 signaling in keratinocytes is crucial for maintaining skin homeostasis by regulating hair follicle-specific keratin genes, potentially impacting dermatitis development through microbe-triggered inflammatory responses.
14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
3 citations
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January 2017 in “Acta Dermato Venereologica” This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
28 citations
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October 2014 in “Development” This study revealed that frizzled 3 can fully rescue polarity defects in frizzled 6-null mice, while frizzled 6 can partially rescue defects in frizzled 3-null mice, highlighting conserved signaling roles in these proteins.
April 2017 in “Journal of Investigative Dermatology” This study found that PRC1 plays crucial roles in skin epithelial stem cell regulation, with catalytic and non-catalytic functions impacting epidermal integrity, hair development, and Merkel cell dynamics in murine models.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that Dlx3 plays a crucial role in regulating chromatin accessibility and gene transcription during keratinocyte differentiation in the epidermis, highlighting its potential impact on epidermal barrier formation and differentiation.
4 citations
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September 2024 in “Development” This study investigated transcription factors in human trophectoderm cells during development, finding that GATA2 and GATA3 are essential for transforming stem cells into induced trophoblast stem cells, which display characteristics similar to placental progenitor cells, offering new methods for modeling placental-associated diseases.
135 citations
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October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
November 2025 in “Journal of Investigative Dermatology” Ritlecitinib effectively treats severe Alopecia Areata by reducing harmful immune activity in the skin.
20 citations
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December 2013 in “PTR. Phytotherapy research/Phytotherapy research” This study found that ginsenoside Rg3 up-regulates vascular endothelial growth factor expression in human dermal papilla cells and mouse hair follicles, suggesting its potential role in promoting hair growth.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
15 citations
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December 2020 in “The Journal of General Physiology” This study found that acid regulation of the TRPV3 channel can inhibit its function from outside the cell while facilitating it from inside, providing insights into skin barrier and disorder mechanisms related to tissue acidosis.
September 2025 in “Development” In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.