58 citations
,
February 2016 in “Scientific reports” This study found that dual inhibition of BACE1 and BACE2 in mice affects melanosome maturation and causes dose-dependent hair depigmentation without altering retinal morphology.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
109 citations
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February 2018 in “CB/Current biology” This study concluded that the receptor-like kinase ERULUS, regulated by auxin, is crucial for modulating cell wall composition and pectin dynamics during root hair growth in Arabidopsis.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
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.
November 2023 in “Nature Communications” This study reported that depleting the pro-apoptotic protein Bax in hair follicle stem cells enables these cells to kill nearby viable cells by sequestering TNFα, which increases the stem cell pool and accelerates tissue regeneration, suggesting potential implications for therapies targeting tissue repair and cancer.
8 citations
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August 2022 in “BMC Veterinary Research” This study found that C57BL/6 mice and Sprague–Dawley rats show distinct distributions of eccrine sweat glands and hair follicles in their volar skin, suggesting these models should be selected according to research focus on skin appendages.
7 citations
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September 2024 in “PLANT PHYSIOLOGY” This study in Arabidopsis thaliana found that exposure to volatile compounds from Penicillium aurantiogriseum promotes root hair growth through signaling involving RALF22, ethylene, auxin, and photosynthesis, and that RALF22 plays a crucial role in the plants' response to these compounds.
September 2018 in “Epsilon Archive for Student Projects (University of Southampton)” This study found that treatment with Bacillus amyloliquefaciens UCMB5113 significantly increased root hair growth in half of the tested Arabidopsis thaliana accessions.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.
31 citations
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August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
53 citations
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August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
99 citations
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May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
20 citations
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December 2013 in “PLoS ONE” This study found that β1 integrin-mediated signaling is crucial for the survival, adhesion, and migration of epithelial progenitor cells in human scalp hair follicles, with varying responses observed among cell subpopulations.
990 citations
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October 1999 in “Development” This study found that LEF1/TCF3 is necessary but not sufficient for TOPGAL activation in hair follicle development, indicating complex regulation in the skin.
13 citations
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December 2005 in “Traffic” In this study, researchers found that syntaxin 9, a novel syntaxin family member, interacts specifically with the epidermal growth factor receptor and may influence its transport and signaling in some epithelial cells.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
This study found that selective deletion of PIKFyve kinase using a PF4 promoter in mice led to defective platelet lysosome biogenesis and a prothrombotic effect, with unexpected macrophage infiltration in multiple organs.
1 citations
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May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
July 2025 in “Journal of Investigative Dermatology” 11 citations
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January 1996 in “PubMed” This study observed that Nod factor stimulation in alfalfa roots leads to dynamic changes in the cytoskeleton and endoplasmic reticulum, suggesting a mechanism for root hair growth changes.
4 citations
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that BLMP-1 is important for timely molting and oscillatory gene expression in C. elegans, indicating a potentially conserved mechanism for rhythmic skin regeneration.
This study observed that the expression of EGF and EGFR increased during goat fetal skin development, suggesting these components play significant roles in skin maturation.
This study found that culturing fibroblasts on stiffer substrates mimicking fibrotic wounds led to an aligned EDA fibronectin matrix with thinner fibers and decreased YAP activity, suggesting disrupted signaling that might be restored to promote regenerative wound repair.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
46 citations
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December 2001 in “Journal of Endocrinology/Journal of endocrinology” This study found that mouse FLRG protein, a secreted glycoprotein, is expressed in certain tissues and plays a role distinct from follistatin during wound healing, suggesting different functions in vivo.
12 citations
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January 1991 in “Acta Dermato Venereologica” The researchers reported that BCE-like changes overlying dermatofibroma show a differentiation pattern most similar to normal basal cells based on specific keratin markers.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.