Associated Papers
Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.
Johansson PA et al.
The Journal of Investigative Dermatology, 2026
Dissecting the Impact of α-MSH-MC1R-cAMP Signaling on UVA-Induced Stress in Fibroblasts - Implications for Regulation of Cutaneous Photoaging.
Böhm M et al.
Aging and Disease, 2026
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
MC1R loss-of-function is associated with accelerated Parkinson's disease motor decline.
Schumacher JG et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Cutaneous Melanoma Risk Assessment among Individuals with a High-Risk Nevus Phenotype.
Polo-Silveira L et al.
The Journal of Investigative Dermatology, 2025
Assessing MC1R Variants in Lentigo Maligna Melanoma within the Utah Population.
Jiang A et al.
Cancer Research Communications, 2025
Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.
Fiasconaro CA et al.
Diseases (basel, Switzerland), 2025
Investigation of the MC1R Gene Sequence Variation Using Oxford Nanopore Sequencing.
Branicki W et al.
Electrophoresis, 2025
Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.
Tovar-Parra D et al.
International Journal of Molecular Sciences, 2025
An overview of benefits and risks of chronic melanocortin-1 receptor activation.
Böhm M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Unveiling the genetic landscape of hereditary melanoma: From susceptibility to surveillance.
Zheng C et al.
Cancer Treatment and Research Communications, 2024
High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.
Pellegrini C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.
Soares de Sá BC et al.
International Journal of Molecular Sciences, 2023
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
Jensen MR et al.
Hgg Advances, 2023
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.
Liebmann A et al.
Ebiomedicine, 2023
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.
Al Saati A et al.
International Journal of Molecular Sciences, 2023
MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression.
Chelakkot VS et al.
Npj Precision Oncology, 2023
Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey.
Cakir A et al.
Dermatology Practical & Conceptual, 2023
The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Wallingford CK et al.
The British Journal of Dermatology, 2023
Mechanisms and implications in gene polymorphism mediated diverse reponses to sedatives, analgesics and muscle relaxants.
Sun Y et al.
Korean Journal of Anesthesiology, 2023
Additional predictions for forensic DNA phenotyping of externally visible characteristics using the ForenSeq and Imagen kits.
Elkins KM et al.
Journal of Forensic Sciences, 2023
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Kempf E et al.
Nature Metabolism, 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Computational and Experimental Analysis of Genetic Variants.
Prokop JW et al.
Comprehensive Physiology, 2022
MC1R Functions, Expression, and Implications for Targeted Therapy.
Guida S et al.
The Journal of Investigative Dermatology, 2022
Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients.
Pellegrini C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.
Neitzke-Montinelli V et al.
Plos One, 2022
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Moore BS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic and Genomic Pathways of Melanoma Development, Invasion and Metastasis.
Motwani J et al.
Genes, 2021
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Vergani E et al.
Genes, 2021
Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.
Zocchi L et al.
Journal of Clinical Medicine, 2021
Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention.
Manganelli M et al.
Genes, 2021
The α-melanocyte-stimulating hormone/melanocortin-1 receptor interaction: A driver of pleiotropic effects beyond pigmentation.
Herraiz C et al.
Pigment Cell & Melanoma Research, 2021
A Randomized Trial of Precision Prevention Materials to Improve Primary and Secondary Melanoma Prevention Activities among Individuals with Limited Melanoma Risk Phenotypes.
Lacson JCA et al.
Cancers, 2021
The protective role of MC1R in chromosome stability and centromeric integrity in melanocytes.
Li X et al.
Cell Death Discovery, 2021
Influence of germline genetic variants on dermoscopic features of melanoma.
Pozzobon FC et al.
Pigment Cell & Melanoma Research, 2021
Skin pigmentation and its control: From ultraviolet radiation to stem cells.
Yardman-Frank JM et al.
Experimental Dermatology, 2021
Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.
Longo C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021