59 citations
,
April 2016 in “Cell Reports” This study demonstrated that EdnrB signaling promotes melanocyte stem cell proliferation and differentiation, enhancing hair and epidermal melanocyte regeneration, especially under conditions of active Wnt signaling.
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.
January 2026 in “Current Issues in Molecular Biology” This study found that transfecting alpaca melanocytes with miR-5110 altered gene expression related to pigmentation, specifically identifying pathways like MAPK and Wnt as involved in melanogenesis regulation, providing insights into miR-5110's role in pigmentation processes.
November 2025 in “Frontiers in Veterinary Science” In this study, feeding H-line chickens a diet with 1.0% tyrosine for 40 days significantly increased melanin deposition in feathers and revealed changes in gene expression related to melanin pathways, suggesting tyrosine's involvement in regulating feather color through the EDNRB2 regulatory network.
11 citations
,
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.
3 citations
,
August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
1 citations
,
January 2014 in “Elsevier eBooks” This review discusses melanocytes' role in pigmentation, their clinical significance in conditions like vitiligo and hair graying, and highlights current research on hair follicle regeneration without reporting new clinical results.
March 2014 in “Institutional Repositories DataBase (IRDB)” Skin-derived stem cells could help treat skin aging and pigmentation issues.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
1 citations
,
November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
66 citations
,
March 2019 in “Cellular and Molecular Life Sciences” This review discusses melanocyte development, emphasizing the plasticity of melanoblasts and the role of both intrinsic and extracellular signals in their differentiation and migration, with no new clinical results reported.
24 citations
,
March 2018 in “Pigment Cell & Melanoma Research” This review discusses the interactions between melanocyte stem cells and their niche in hair regeneration and repair, but reports no new results; recent studies on molecular pathways are highlighted.
15 citations
,
November 2015 in “Trends in biotechnology” This article discusses strategies for changing hair color by regulating target genes in hair follicles using advanced delivery systems, but it reports no new experimental findings.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
401 citations
,
January 2013 in “Postepy Dermatologii I Alergologii” This review discusses the biology and development of skin melanocytes, but reports no new clinical findings.
43 citations
,
November 2019 in “PLoS ONE” This study revealed that differential gene and protein expression in the "Yufen I" H line chicken breed is crucial for Columbian plumage coloration, particularly in the melanogenesis pathway.
41 citations
,
December 2018 in “Experimental Dermatology” This review explores recent findings on the roles of melanocyte and melanocyte stem cells in the hair follicle, highlighting their importance for skin health and potential applications in regenerative medicine, but reports no new clinical results.
8 citations
,
February 2013 in “Central European Journal of Biology” This article discusses melanocyte development from neural crest cells and reports no new experimental results; the authors suggest a broader range of functions for melanocytes than previously recognized.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
Defective protein folding due to a mutation is key in ANE syndrome.
75 citations
,
January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
260 citations
,
June 2011 in “Cell” This study found that Wnt signaling in the hair follicle is crucial for coordinating the behavior of epithelial and melanocyte stem cells, which drives hair regeneration and melanocyte differentiation in mice.
256 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that altering cell culture conditions to form three-dimensional papilla spheroids can restore the ability of human dermal papilla cells to induce hair growth in adult skin.
145 citations
,
November 2018 in “Nature Communications” This study found that activating the Sonic hedgehog pathway in scarring wounds can remodel the dermis to promote hair follicle regeneration, highlighting a potential new approach to enhance healing.
67 citations
,
November 2019 in “Nature Communications” This study demonstrated that a c-Kit-CreER-driven mouse model confirms melanocyte stem cells as a genuine source of melanoma, paralleling human melanoma in heterogeneity and gene signatures.
66 citations
,
May 2021 in “Science Advances” In this study, researchers found that electrospun membranes with aligned surface topography advanced the immune response towards an adaptive stage and highlighted the role of T cells in hair follicle regeneration in mice, showcasing the intricate interactions between immune and skin cells.
57 citations
,
May 2014 in “Molecular Phylogenetics and Evolution” This study utilized a sequence-structure alignment approach to improve the characterization of Class A Rhodopsin GPCR superfamily, including orphan and unclassified receptors, through evolutionary analysis.