23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
3 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
In this expert consensus, the authors aimed to address the challenges of diagnosing and treating uncommon dermatophytoses due to their distinct characteristics and lack of standardized protocols, by providing scientific guidance on their epidemiology, clinical features, diagnosis, and treatment.
21 citations
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June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
14 citations
,
June 2019 in “BMC infectious diseases” This study presents the first reported case of kerion-type scalp mycosis caused by Aspergillus protuberus, emphasizing the importance of mycological examination when diagnosing unusual scalp infections, especially in children.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
May 2026 in “Research Square” This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.
77 citations
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July 2020 in “Cell” This study found that sympathetic nerves and arrector pili muscles form a niche that modulates hair follicle stem cell activity, revealing their role in hair follicle regeneration.
This study found that loss of the DNA methyltransferase Dnmt3a, but not Dnmt3b, increased carcinogen-induced squamous tumors in murine epidermis, with combined deletion leading to more aggressive and metastatic carcinomas.
10 citations
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May 2025 in “Cell Biomaterials” This perspective highlights how advancements in single-cell sequencing and digital pathology can help understand the complex mechanisms of immune responses, fibrosis, and tissue remodeling related to medical implants, aiming to address the challenges of implant-related tissue reactions reported in this study.
218 citations
,
September 2012 in “Gastroenterology” This review discusses the role of epigenetics in colorectal cancer and explains how changes like DNA methylation impact tumor development, but it reports no new results.
132 citations
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February 2002 in “Journal of Biological Chemistry” This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.
5 citations
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August 2023 in “G3 Genes Genomes Genetics” This study developed an improved reference genome for the African spiny mouse using long Nanopore sequencing reads, potentially aiding future research into the species' remarkable tissue regeneration capabilities.
8 citations
,
June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
February 2024 in “Veterinary sciences” This study found that canine pemphigus foliaceus skin lesions exhibit a distinct immune signature, with upregulated pro-inflammatory and Th17-related genes, showing similarities to human pemphigus. Further research using advanced sequencing is needed to better understand the disease's pathogenesis.
3 citations
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July 2023 in “Frontiers in Aging” This research detailed a single-cell atlas showing dynamic hair follicle stem cell states associated with the hair cycle during aging in mice, highlighting differences in chromatin landscape linked to stem cell differentiation and quiescence, and providing a foundation for future exploration of aging reversal.
July 2025 in “PNAS Nexus” This study integrated single-cell RNA-seq data from four previous studies to create a comprehensive human corneal cell state meta-atlas, revealing novel marker genes, rare cell states, and distinct transcription factors, and offering a tool to enhance future cornea research.
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.
19 citations
,
June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
1 citations
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October 2025 in “BMC Genomics” This study found that both natural and environmental selection have significantly influenced the goat genome, revealing genetic loci tied to adaptation, fitness, and productive traits, more so than artificial selection, across various goat populations.
1 citations
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October 2023 in “Frontiers in Oncology” This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.
21 citations
,
August 2024 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” This paper reviews the advancements and applications of single-cell transcriptomics in animal research, highlighting its potential to enhance understanding of animal nutrition, health, genetics, and disease models.
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.
9 citations
,
March 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This symposium reviewed various advances in understanding and potentially reversing skin aging, with no new experimental results reported.
6 citations
,
August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
4 citations
,
December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
1 citations
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July 2025 in “Genetics Selection Evolution” In this study, using scRNA-seq, researchers detailed the gene expression and cell differentiation processes in goat fetal horn buds, identifying crucial roles for dermal and epithelial cells in horn initiation and highlighting potential genetic factors involved in horn morphogenesis.