9 citations
,
December 2018 in “Journal of Natural Fibers” This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that zebrafish and stickleback fish use similar genetic programs for tooth regeneration, despite differences in their dental structures.
38 citations
,
January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
27 citations
,
January 2000 in “Developmental Dynamics” This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.
20 citations
,
June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
2 citations
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December 2020 in “Frontiers in genetics” In this study, the researchers identified the SPEF2 and PRLR genes as potential candidates associated with feather rate phenotypes in Shouguang chickens through combined genome-wide association and differential expression analyses.
1 citations
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August 2021 in “Frontiers in Genetics” This study suggests that melatonin may enhance wool growth in cashmere goats by activating sulfur metabolism genes and high-sulfur protein genes, which are crucial for providing sulfur-containing amino acids needed for wool quality.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
October 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Sox9, Caveolin1, and Androgen receptor genes are expressed in both skin tissues and musk glands of Chinese forest musk deer, suggesting their importance in these tissues.
103 citations
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March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
21 citations
,
December 1991 in “Annals of the New York Academy of Sciences” This study suggests that hair keratin gene mutations in mice may be linked to specific loci on chromosomes 11 and 15, potentially influencing keratin expression or structure.
11 citations
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March 2013 in “Gene” This study reported that the IL1A 4-bp indel polymorphism is associated with a reduced risk of alopecia areata in Chinese populations, possibly through miR-122 mediated regulation of IL-1α expression.
5 citations
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January 2016 in “Dermatology” This study found no significant difference in CAG repeat numbers of the androgen receptor gene between Han Chinese women with female pattern hair loss and healthy controls, suggesting it may not be a genetic marker for FPHL in this population.
4 citations
,
January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.
April 2025 in “Brazilian Journal of Hair Health” This article suggests that cultural and environmental influences, such as exposure to sexualized content, stress, poor sleep, and unhealthy diets, may accelerate androgenetic alopecia onset by affecting hormonal systems, gene expression, and hair follicle health, despite its genetic basis.
December 2024 in “PLoS ONE” In this study, researchers evaluated male-pattern hair loss treatments using RNA and microRNA expression profiling in 91 male participants, identifying 52 differentially expressed genes and suggesting a potential role for personalized treatment based on genetic analysis to monitor and predict treatment efficacy and compliance.
November 2024 in “Benha Journal of Applied Sciences” In this study, the researchers explored how the loss of structural integrity in hair follicles due to reduced α-SMA expression in the vertex area may contribute to androgenetic alopecia.
April 2018 in “Journal of Investigative Dermatology” This study found that the cell of origin in mouse skin affects melanoma phenotype and response to therapies, despite the presence of the same genetic mutations.
August 2014 in “Springer eBooks” This article proposes that the combined genetic factor of filaggrin deficiency and environmental factor of staphylococcal biofilms contribute to the development of eczema and ichthyosis vulgaris, but reports no new clinical findings.
82 citations
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September 2020 in “Briefings in Bioinformatics” This study identified shared genes and pathways in idiopathic pulmonary fibrosis patients with COVID-19, suggesting these may increase mortality and pointing to potential drug targets for treatment.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
46 citations
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April 2016 in “Journal of Investigative Dermatology” This study suggests that down-regulation of vasculature-related genes in dermal papilla cells from balding scalps might contribute to the development of androgenetic alopecia.
24 citations
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January 2018 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses advances in molecular biology and genetics related to androgenetic alopecia and reports no new clinical results.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
16 citations
,
December 2020 in “PloS one” In this study, WNT10A was identified as a key gene in the development and maturation of skin hair follicles in fetal Inner Mongolian cashmere goats.
15 citations
,
July 2015 in “Developmental Dynamics” This study highlights the role of Orai1 in ameloblast differentiation and maturation, showing that its down-regulation affects cell proliferation and enamel formation during tooth development.