17 citations
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January 2007 in “Annals of Medicine” This review discusses advancements and challenges in cutaneous gene therapy using direct and indirect techniques, noting that while clinical translation has begun, further developments are essential for progress.
April 2018 in “Journal of Investigative Dermatology” In this study using a transgenic mouse model, Id2 overexpression in hair follicle stem cells prolonged quiescence by affecting gene expression, partly independent from BMP signaling.
8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
November 2025 in “Journal of Investigative Dermatology” This study found that UVB exposure led to visible tanning and distinct DNA methylation changes in pigmentation genes in tan-capable skin but not in non-tan skin, highlighting GNAS as a potentially UVB-responsive gene.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” In this study, keratin genes mHa1 and mHb4 were unable to form an extensive keratin network in one cell line, altering endogenous keratin distribution, but showed better integration in another cell line.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
This study successfully established a functionally stable immortalized sheep granulosa cell line (GCs-SV40T-GFP) that can passaged up to 50 generations, maintaining morphological stability and estradiol secretion, offering a valuable model for research into animal reproductive function and hormone regulation.
20 citations
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August 2017 in “PLoS ONE” This study identified and updated the annotation of 61 keratin genes in dogs and horses, improving the genome annotation in these species through RNA-seq data comparison.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
30 citations
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October 1999 in “Differentiation” This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.
19 citations
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January 2007 in “Journal of medical investigation” This study found that transplanting GFP transgenic tail skin onto wild-type mice leads to partial replacement of dermis, nerves, and blood vessels by recipient tissue after six months, while epidermis, hair follicles, and sebaceous glands persist from the graft.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
138 citations
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December 1976 in “Journal of Biological Chemistry” This study purified a transglutaminase enzyme from human epidermis that requires calcium or strontium for activity and forms cross-linked polymers, but its detailed activation mechanism remains unclear.
This research identified genetic sequences that evolved at different rates in hairless versus hairy mammals, suggesting specific genetic changes contributed to the convergent evolution of hairlessness across various mammalian species.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This research suggests that hair keratins evolved from claw keratins in a hairless ancestor, with Hoxc13 controlling their expression in tetrapods, evidenced by the knockout of Hoxc13 hindering claw formation in Xenopus tropicalis frogs.
69 citations
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December 2015 in “BMC plant biology” This study provides evidence that five Hyp-O-GALT genes are crucial for AGP galactosylation and that AGP glycans are vital for various aspects of plant growth and development.
November 2020 in “UNC Libraries” In this study, researchers identified seven new genetic loci associated with prostate cancer susceptibility through a multi-stage genome-wide association study.
26 citations
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April 2019 in “Genes” In this study, researchers identified novel long non-coding RNAs related to cashmere fineness in goats, highlighting a potential regulatory network involving lncRNA XLOC_008679 and its target gene KRT35.
61 citations
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May 2016 in “Scientific reports” This study found that IMT-P8, a novel cell-penetrating peptide, effectively facilitated the dermal delivery of proteins and peptides in mouse skin and cell lines, suggesting potential for topical applications in cosmetics and skin diseases.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
3 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces scINSIGHT, a method to analyze single-cell RNA sequencing data that outperforms existing techniques in identifying gene expression patterns across different biological conditions.
November 2022 in “Journal of Investigative Dermatology” This study identified a novel LZTR1 mutation associated with hybrid schwannoma and neurofibroma in a patient with schwannomatosis, but not all cases of hybrid tumors are linked to this condition.
10 citations
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September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
January 2004 in “Chinese Journal of Dermatology” This study found that intradermal injection of specific oligonucleotides altered hair growth and morphology in mice by inducing a dominant mutation in the K17 gene.
10 citations
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December 2023 in “International Journal of Nanomedicine” This study reviewed the challenges of delivering nucleic acids for gene therapy, highlighting the limitations of non-viral vehicles and exploring bioinspired strategies using cell membrane camouflage for improved delivery efficacy.
December 2025 in “Drug Discovery and Molecular Docking (DDMD)” This review highlights how single-cell transcriptomics has advanced understanding of tissue regeneration by revealing cellular diversity and key molecular interactions in animal models, despite methodological challenges, suggesting future applications in developing targeted regenerative therapies.
29 citations
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December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
2 citations
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September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study demonstrated that ablation of individual somatostatin-expressing interneurons increased activity in nearby neurons of the mouse motor cortex during motor learning.