73 citations
,
December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
20 citations
,
February 2023 in “Biology” This review highlights the possibility of safely altering hair color through innovative cosmetics by targeting key biological processes in hair follicles, using insights from mammalian pigmentation studies and drug-induced hair color changes as potential pathways.
14 citations
,
May 2022 in “Animals” This study found that female Holdobaggy goslings have higher melanin content in their dorsal plumage than males, suggesting that initial plumage color can be used for sex identification.
11 citations
,
October 2022 in “Clinical Cosmetic and Investigational Dermatology” In this study, SNPs in genes affecting skin pigmentation were linked to each skin type's unique response to environmental stress, suggesting potential for personalized skin care products.
9 citations
,
June 2024 in “BMC Genomics” This study identified genetic variations associated with black and white wool color in Gangba sheep, enhancing understanding of wool color genetics and aiding selective breeding for specific wool colors in Tibetan sheep.
9 citations
,
February 2023 in “Genes” This study reveals that long non-coding RNAs influence cashmere fiber traits in goats by interacting with target genes involved in pathways affecting fiber diameter and color.
5 citations
,
May 2023 in “Frontiers in Cell and Developmental Biology” This study used single-cell techniques and lineage tracing to reveal that integrin α6 expression in neural crest cells can differentiate them into Schwann cells, melanocytes, and fibroblasts in skin, identifying integrin α6 as a potential marker for these derivatives.
5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
5 citations
,
December 2011 in “Springer eBooks” 4 citations
,
March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
2 citations
,
September 2024 in “Animals” In this study, researchers identified key genes such as EDNRB2, GPNMB, TRPM1, TYR, and DCT that regulate melanin deposition in the breast muscles of black-boned chickens, contributing to their unique pigmentation during embryonic development.
This study found that integrating machine learning enhances the predictive accuracy of forensic DNA phenotyping from low template DNA, achieving high accuracy for traits like eye color, although challenges remain for admixed populations and complex traits.
January 2026 in “Annals of Dermatology” This review outlines evidence-based strategies for diagnosing pediatric hypopigmented disorders and emphasizes distinguishing vitiligo from self-limiting conditions through a systematic clinical approach; no new results are reported.
This review discusses forensic DNA phenotyping and its potential applications, particularly for human identification in Latin American populations, but notes challenges due to genetic diversity and reports no new results.
April 2024 in “Journal of translational medicine” This review highlights the diverse roles of melanocytes in pigmentation, immunity, and hearing among other functions, their involvement in disorders, and their emerging potential in regenerative medicine, including applications in disease modeling and therapy development using advanced technologies.
December 2022 in “IntechOpen eBooks” This paper discusses forensic DNA phenotyping, emphasizing its ability to infer visible traits from biological samples without reference samples, but notes ethical and legal concerns related to its use.
This study found that in mice, the epidermal microenvironment reverses the oncogenic effects of GNAQQ209L in melanocytes, inhibiting their survival and proliferation through paracrine signals.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
13 citations
,
June 2014 in “Molecular therapy” This study found that a lentiviral array of reporters can identify lineage-specific promoters and pathways in mesenchymal stem cell differentiation, aiding in the prediction of signaling pathway effects.
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
191 citations
,
November 2007 in “Journal of Biological Chemistry” This review discusses the acyl-CoA synthetase very-long-chain (ACSVL) enzyme family, including its biochemical characteristics, tissue expression, and involvement in lipid metabolism, but presents no new experimental results.
46 citations
,
August 2020 in “International Journal of Genomics” This review examines over 271 candidate genes associated with economic traits in goats, highlighting their potential use in genetic markers and future breeding programs, and reports no new experimental results.
45 citations
,
October 2015 in “BMC Genomics” This study identified morphotype-specific gene expression patterns in feathers, enhancing understanding of the molecular and cellular processes involved in feather development and diversification.
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.
9 citations
,
August 2024 in “International Journal of Molecular Sciences” This review explores epidermolysis bullosa simplex subtypes caused by mutations in KRT5 or KRT14 and summarizes gene expression patterns and molecular mechanisms, without presenting new experimental results.
7 citations
,
August 2023 in “Life” This review discusses using extracellular vesicles as less invasive surrogates for assessing drug-metabolizing enzymes and transporters, suggesting potential advancements in precision therapy, but reports no new clinical results.
5 citations
,
January 2025 in “Science Advances” In this study, researchers observed that acute stress increased levels of the enzyme 5αR2 in the medial prefrontal cortex of male rats, affecting stress reactivity, but this effect was not seen in females.
4 citations
,
February 2022 in “Experimental Dermatology” This study found that mitochondrial dysfunction and higher oxidative stress in balding dermal papilla cells may contribute to androgenetic alopecia, with antioxidants potentially improving metabolite uptake.
June 2025 in “Clinical Cosmetic and Investigational Dermatology” This study examined the factors contributing to gray hair, such as genetics and lifestyle, and found that while graying correlates with some health conditions, it is primarily a physiological process rather than a pathological one.
April 2024 in “Pigment cell & melanoma research” This study explored the diversity of melanocyte stem cell subpopulations in the hair follicles of adult female mice and identified novel groups with distinct immune privilege regulation, suggesting a heterogeneous landscape that future research should consider.