11 citations
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March 2019 in “EMBO molecular medicine” This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.
10 citations
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March 2022 in “Communications biology” In this study, researchers found that non-invasive analysis of skin surface lipid RNAs revealed alterations in gene expression patterns associated with atopic dermatitis, suggesting its potential for understanding skin disease pathophysiology.
10 citations
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March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
9 citations
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March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
8 citations
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June 2024 in “APOPTOSIS” In this review, researchers discussed recent insights into caspases, enzymes initially associated with cell death and inflammation, revealing their broader roles in cell proliferation, migration, and differentiation, and highlighting the importance of caspase knock-out mice for understanding their implications in diseases.
7 citations
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October 2024 in “Frontiers in Immunology” In this study, researchers prepared a humanized CXCL12 antibody for alopecia areata treatment, finding it significantly delayed disease onset in mice and reduced immune cell activation, suggesting potential as an immune modulatory therapy.
7 citations
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September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
7 citations
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June 2022 in “Czech Journal of Animal Science” This study identified 21 novel circular RNAs in cashmere goats, with nine significantly more expressed during the anagen phase of hair follicle growth, suggesting roles in hair regeneration and cashmere yield enhancement.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
5 citations
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January 2017 in “Endocrinology” This chapter reviews the biosynthesis, mechanism of action, and therapeutic effects of testosterone and related androgens, but reports no new research findings.
3 citations
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July 2025 in “International Journal of Biological Sciences” This review highlights that the RNA modification N6-methyladenosine (m6A) plays a crucial role in regulating wound healing and tissue remodeling, with dysregulation contributing to complications in chronic wounds, such as diabetic ulcers and burn injuries, through mechanisms like impaired angiogenesis and increased oxidative stress.
2 citations
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November 2022 in “Animal Bioscience” This study found that m6A-circRNA-ZNF638 enhances the activation of secondary hair follicle stem cells in cashmere goats by interacting with the miR-361-5p/Wnt5a pathway.
2 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin surface lipids contain measurable mRNAs, providing a non-invasive way to study skin diseases, with specific gene expression changes observed in atopic dermatitis patients.
2 citations
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January 2019 in “Biomecánica” This review examines the roles of Hyaluronic Acid and Versican in the skin extracellular matrix and reports no new research findings, highlighting their involvement in processes like differentiation and wound healing.
2 citations
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November 2017 in “Elsevier eBooks” This article discusses the role of the androgen receptor in regulating development and homeostasis, and reviews treatment approaches for conditions related to hormone imbalances, without reporting new clinical findings.
2 citations
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January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
This study found that γδ T cells play a role in regulating stromal behavior, influencing the composition and vascularity of fibrotic tissues during the foreign body response.
1 citations
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July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
1 citations
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June 2010 in “Development” This review summarizes discussions from a 2010 stem cell biology meeting, covering the origin, behavior, and therapeutic potential of pluripotent and multipotent stem cells, without reporting new experimental findings.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
April 2026 in “Dermatology and Therapy” This Delphi consensus study provides expert insights into hair aging, aims to enhance diagnostic precision and management of age-related hair changes, and identifies possible new therapeutic targets.
January 2026 in “Immune Network” This review discusses the heterogeneity of Tregs in normal and tumor environments, emphasizing the complexity of targeting tumor-resident Tregs while maintaining systemic immune tolerance, but reports no new findings.
October 2025 in “Animal Bioscience” This study identified important lncRNAs and genes associated with cashmere shedding in goats and explored their regulatory interactions, providing insights into the molecular mechanisms that may underlie this phenomenon.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
September 2022 in “Institutional Repositories DataBase (IRDB)” Adipose-derived stem cells can be transformed into hair-forming cells using specific extracellular vesicles, offering potential for hair regeneration therapies.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.