16 citations
,
November 2024 in “Human Genetics and Genomics Advances” This study identified 24 independent genetic variations and 127 unique genes associated with nociplastic pain, suggesting it is a complex, heritable trait with links to various cognitive and metabolic pathways.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
23 citations
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June 2023 in “Cell Reports” In this study, researchers used transcriptomics and modeling to uncover previously unknown cell populations and marker genes in developing hair follicles, providing insights into early cell fate establishment and offering tools for further research on skin appendages.
May 2023 in “Stem Cells International” In this study, researchers used single-cell RNA sequencing to identify cell types and molecular differences in subcutaneous adipose tissue from various anatomical sites, suggesting that certain subpopulations of human adipose stem cells might improve the treatment of chronic refractory wounds.
85 citations
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January 2018 in “Cell stem cell” This study found that synchronized signals in the microenvironment regulate stem cell lineage choices in hair follicles by influencing chromatin dynamics during regeneration.
22 citations
,
January 2010 in “Humana Press eBooks” This chapter discusses the molecular biology of the vitamin D receptor in gene transcription and reports no new results; it highlights recent findings on receptor activity independent of its usual ligand.
October 2025 in “Physiologia” In this exploratory in vitro study, treatment with spermidine increased cell viability and altered gene expression in human epidermal keratinocytes, suggesting potential benefits to cellular health and function, though effects on mitochondrial markers were not significant.
April 2019 in “Journal of Investigative Dermatology” This study found that frontal fibrosing alopecia involves distinct molecular changes, such as downregulation of steroid and cholesterol pathways and upregulation of fibrotic and immune response genes, which may help guide treatment strategies.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
65 citations
,
September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
31 citations
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October 2019 in “Genes & Diseases” This study identified significant gene expression differences in human basal cell carcinoma, including up-regulation of zinc finger encoding genes, which are not entirely reflected in current mouse models.
1 citations
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July 2025 in “Frontiers in Veterinary Science” This study examined genetic adaptations in Tibetan sheep through whole-genome resequencing, identifying key genes related to hypoxia tolerance, wool color, and body size. These findings provide a foundation for future molecular breeding strategies to enhance wool quality and adaptive traits in these high-altitude environments.
1 citations
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September 2024 in “Animals” In this study, researchers identified six unique genetic variants of a sheep gene, KRTAP19-3, with specific variants linked to changes in wool fibre traits, such as increased fibre diameter variability, suggesting these genetic differences affect wool characteristics in Chinese Tan sheep.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
June 2024 in “The American journal of psychiatry” In this study by Sawada et al., the researchers developed a human striatal model using stem cells and postmortem samples, revealing accelerated neuronal maturation and specific gene expression changes linked to schizophrenia risk, which may inform future research on the disorder's developmental roots.
2 citations
,
May 2024 in “International Journal of Molecular Sciences” This study found that in a mouse model of psoriasis, depleting CD169+ macrophages led to milder symptoms and decreased inflammation, suggesting these macrophages play a crucial role in psoriasis development.
130 citations
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April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
89 citations
,
January 2009 in “Advances in Clinical Chemistry” This review discusses the differences in wound healing between fetal and adult skin, highlighting the potential to uncover genes for scarless repair that could improve adult wound healing.
73 citations
,
February 2023 in “Polymers” This review discusses the unique properties, design, and fabrication of peptide hydrogels for biomedical applications, focusing on advances in drug delivery, gene therapy, and regenerative medicine; it reports no new clinical results.
26 citations
,
May 2020 in “JCI Insight” In this study, single-cell sequencing revealed clonal expansions of CD4+ and CD8+ T cells in murine and human alopecia areata, supporting the development of predictive models for human disease.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
March 2026 in “International Journal of Molecular Sciences” In this laboratory study, researchers observed that mouse vascular endothelial cells exhibit dynamic changes after exposure to ionizing radiation, including a transient endothelial subpopulation that facilitates vascular-epidermal communication and skin repair, with shifting roles in angiogenesis and immune surveillance over time.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This study found that pediatric alopecia areata patients with atopic predisposition showed heightened immune and inflammatory responses, including significant immune cell infiltration, compared to adults and healthy controls.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that TET2 plays a tumor-suppressive role in preventing squamous cell carcinomas by regulating 5-hydroxymethylcytosine levels, suggesting therapeutic potential for DNA methylation dynamics.
April 2026 in “Frontiers in Immunology” In this study, researchers did not find any genome-wide significant genetic signals linked to comorbid chronic inflammatory disorders in patients with alopecia areata, but exploratory analysis suggested potential associations worth further study.
In this study, researchers used transcriptome sequencing to identify 1543 differentially expressed genes between cashmere and normal goats, implicating several signaling pathways and key regulators in the distinct gene expression profiles linked to cashmere fiber production, which advances understanding of cashmere goat genetics.
242 citations
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February 2016 in “Science” This research found that Foxc1 transcription factor and COL17A1 are critical in regulating quiescence and hair thinning in hair follicle stem cells, with aging-related DNA damage leading to hair loss.
67 citations
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December 2008 in “Developmental Biology” This study found that the transcription factors Msx2 and Foxn1 are crucial for maintaining Notch1 expression in the hair follicle matrix, which is necessary for proper hair differentiation.
18 citations
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January 2020 in “Ecology and evolution” This study analyzed gene expression changes during the autumn coat color change in mountain hares and found conserved gene regulation with snowshoe hares, highlighting its role in seasonal camouflage adaptation.