January 2024 in “Biochemical genetics” This study investigated the gene and protein expression differences in early and late feathering chickens, identifying several pathways, like JAK-STAT and WNT, potentially involved in non-Mendelian feather growth regulation.
20 citations
,
March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
383 citations
,
February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
101 citations
,
September 2006 in “Journal of Biological Chemistry” This research quantified the fidelity of human mitochondrial DNA polymerase and found it averages 1 error in 440,000 nucleotides, impacting its function related to disease and mitochondrial health.
49 citations
,
June 2019 in “eLife” This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.
17 citations
,
July 2022 in “BMC Genomics” This study found that overexpression of the FA2H gene in cashmere goats' hair follicle cells may enhance hair proliferation and regulate genes affecting cashmere fineness.
6 citations
,
November 2022 in “Forensic Science Medicine and Pathology” This study demonstrated that genetic markers can predict human ear morphology with moderate to good accuracy, potentially aiding forensic identification in crime scene investigations where traditional DNA matches are unavailable.
35 citations
,
April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
13 citations
,
April 2019 in “iScience” In this study, researchers observed that EGFR deficiency in the epidermis affects gene expression related to cell differentiation and structure, highlighting spatial and temporal roles of EGFR during skin and hair follicle development.
46 citations
,
August 2022 in “Animals” This study identified key genes and miRNAs involved in feather morphogenesis in Zhedong White geese, highlighting a negative correlation between FOXO3 and miR-144-y.
6 citations
,
April 2024 in “Journal of Investigative Dermatology” This review highlights recent advances in CRISPR-based lineage tracing methods that can improve our understanding of skin stem cell behavior, regeneration, and disease, with potential applications in organoids and model organisms.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
75 citations
,
April 2000 in “Developmental Dynamics” This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
27 citations
,
June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.
6 citations
,
August 2022 in “Science immunology” This study identified key regions and transcription factors, including SIX1 and FOXN1 itself, that regulate Foxn1 expression in thymic epithelial cells and hair follicle cells, offering insights into its transcriptional regulation.
5 citations
,
December 2021 in “Frontiers in Cell and Developmental Biology” This review outlines how peptidyl arginine deiminases (PADIs) and protein citrullination are involved in hair follicle regeneration and inflammatory alopecia, but presents no new clinical findings.
1 citations
,
December 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses various methods for processing and separating human skin samples for research purposes, evaluating factors like processing time and cell viability, but reports no new experimental findings.
April 2025 in “Journal of Investigative Dermatology” This study found that elevated luteinizing hormone levels were significantly associated with female pattern hair loss, and implicated LH/LHR signaling in the aging and damage of hair follicles.
May 2024 in “Cell proliferation” This study found that melatonin supplementation significantly promoted hair regeneration in a hair depilation mouse model by up-regulating the Wnt/β-catenin signaling pathway in dermal papillae and hair follicle stem cells, suggesting potential implications for human hair loss treatments.
114 citations
,
February 2023 in “International Journal of Molecular Sciences” This review discusses the relationship between skin microbiome changes and conditions such as ageing and skin disease, emphasizing the need for further research, but reports no new findings.
112 citations
,
September 2021 in “BMC Biology” This study found that specific gene expressions during different stages of hair follicle development in Merino sheep are linked to wool-related traits, and may also be relevant to human skin, metabolic, and immune traits.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” This review summarizes recent findings on keratins 6, 16, and 17, highlighting their role in keratinocyte behavior and nuclear functions, and discusses their potential as biomarkers for various skin pathologies, including damage, inflammation, and cancer, rather than in healthy skin.
November 2025 in “Bioactive Materials” In this study, researchers developed a DNA/GelMA-based cryogel platform that uses phototherapy to combat MRSA infection and promote scarless wound healing, showing enhanced bactericidal activity, tissue regeneration, and anti-inflammatory effects in vivo, suggesting a promising approach for treating infected skin wounds.
86 citations
,
April 2009 in “Journal of anatomy” This paper reviews the evolution of skin appendages and keratin-associated proteins among amniotes, proposing a model for their genetic divergence without new experimental results.
44 citations
,
June 2023 in “Cell Reports” This study investigated dermal fibroblasts in mouse skin using single-cell RNA sequencing and identified signaling pathways that influence adipogenesis, finding that IL-1-NF-κB promotes, while WNT-β-catenin inhibits, the adipogenic potential of these cells, with implications for wound healing and scar formation.
4 citations
,
January 2023 in “Skin health and disease” This study shows that in a mouse model of Alopecia Areata, selective JAK1 inhibition facilitated hair regrowth and inflammation resolution while potentially offering a better safety profile compared to pan-JAK inhibition.
2 citations
,
July 2025 in “Frontiers in Veterinary Science” This review highlights that microRNAs (miRNAs) play crucial roles in hair follicle development and cycling in cashmere goats, detailing recent advances in understanding their regulatory functions and potential applications in improving cashmere fiber quality and diagnosing hair disorders.
June 2025 in “Cell Regeneration” In this study, Dguok deficiency in mice led to premature hair greying due to a loss of melanocyte stem cells and mature melanocytes, with increased oxidative stress and cell death; treatment with an antioxidant mitigated these effects, suggesting DGUOK's importance in hair pigmentation maintenance.