• openAccess   Análisis de la asociación entre sexo y diferencias en pigmentación humana según el genotipo del gen MC1R 

      Hernando, Barbara; Ibarrola-Villava, Maider; Llorca-Cardeñosa, Marta J.; Ribas, Gloria; Martinez-Cadenas, Conrado Universitat Jaume I (2016)
      Introducción: La pigmentación cutánea basal y la respuesta al sol por bronceamiento son rasgos hereditarios influidos por varios genes, entre los que el gen mc1r es uno de los más importantes. Mutaciones en este gen afectan ...
    • closedAccess   Gender and eye colour prediction discrepancies: A reply to criticisms (letter) 

      Martinez-Cadenas, Conrado; Peña Chilet, María; Llorca-Cardeñosa, Marta J.; Cervera, Raimundo; Ibarrola-Villava, Maider; Ribas, Gloria Elsevier (2014)
      Letter to the editor: In a letter published in this same issue, Liu et al. reply to a recently published article by us contesting the main conclusion of our original paper, namely, that gender is a factor that contributes to ...
    • openAccess   Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model 

      Martinez-Cadenas, Conrado; Peña Chilet, María; Ibarrola-Villava, Maider; Ribas, Gloria Elsevier (2013)
      In recent years, several studies have greatly increased our understanding of the genetic basis underlying human eye colour variation. A large percentage of the eye colour diversity present in humans can already be genetically ...
    • openAccess   Genetic 3’UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight 

      Hernando, Barbara; Peña-Chilet, Maria; Ibarrola-Villava, Maider; Martín González, Manuel; Gómez Fernández, Cristina; Ribas, Gloria; Martinez-Cadenas, Conrado Wiley (2017-10)
      Sunlight exposure induces signalling pathways leading to the activation of melanin synthesis and tanning response. MicroRNAs (miRNAs) can regulate the expression of genes involved in pigmentation pathways by binding to the ...
    • openAccess   Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population 

      Peña Chilet, María; Blanquer Maceiras, Maite; Ibarrola-Villava, Maider; Martinez-Cadenas, Conrado; Martín González, Manuel; Gómez Fernández, Cristina; Mayor, Matías; Avilés, Juan Antonio; Lluch , Ana; Ribas, Gloria BioMed Central (2013-03)
      Background Few high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance genes such as MC1R, OCA2, ASIP, SLC45A2 and TYR has been observed. Lately, genome-wide association ...
    • openAccess   Involvement of ANXA5 and ILKAP in Susceptibility to Malignant Melanoma 

      Santos, Alonso; Ribas, Gloria; Ibarrola-Villava, Maider; Peña Chilet, María; Martinez-Cadenas, Conrado; Gardeazabal, Jesús; Careaga, Jesús María; Pérez-Yarza, Gorka; Sánchez-Díez, Ana; Ratón-Nieto, Juan Antonio; Arroyo-Berdgo, Yoana; Carretero, Gregorio; Martín González, Manuel; Gómez Fernández, Cristina; Nagore, Eduardo; Asumendi, Aintzane; Boyano, Dolores Public Library of Science (2014)
      Single nucleotide-polymorphisms (SNPs) are a source of diversity among human population, which may be responsible for the different individual susceptibility to diseases and/or response to drugs, among other phenotypic ...
    • closedAccess   Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk 

      Llorca-Cardeñosa, Marta J.; Peña Chilet, María; Mayor, Matías; Gómez Fernández, Cristina; Casado, Beatriz; Martín González, Manuel; Carretero, Gregorio; Lluch , Ana; Martinez-Cadenas, Conrado; Ibarrola-Villava, Maider; Ribas, Gloria Elsevier (2014)
      Telomere length has been associated with the development of cancer. Studies have shown that shorter telomere length may be related to a decreased risk of cutaneous melanoma. Furthermore, deregulation of the telomere-maintaining ...
    • openAccess   Sex and MC1R variants in human pigmentation: Differences in tanning ability and sensitivity to sunlight between sexes 

      Hernando, Barbara; Ibarrola-Villava, Maider; Peña Chilet, María; Alonso, Santos; Ribas, Gloria; Martinez-Cadenas, Conrado Elsevier (2016)
    • openAccess   Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of Spanish origin 

      Hernando, Barbara; Ibarrola-Villava, Maider; Fernández, Lara P.; Peña Chilet, María; Llorca-Cardeñosa, Marta J.; Oltra, Sara S.; Alonso, Santos; Boyano, Dolores; Martinez-Cadenas, Conrado; Ribas, Gloria BioMed Central (2016-03)
      Background Human pigmentation is a polygenic quantitative trait with high heritability. In addition to genetic factors, it has been shown that pigmentation can be modulated by oestrogens and androgens via up- or ...
    • openAccess   Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in South Europeans 

      Martinez-Cadenas, Conrado; López, Saioa; Ribas, Gloria; Flores, Carlos; García, Oscar; Sevilla, Arrate; Smith-Zubiaga, I.; Ibarrola-Villava, Maider; Pino-Yanes, M .; Gardeazabal, Jesús; Boyano, Dolores; García de Galdeano, Alicia; Izagirre, Neskuts; de la Rúa, Concepción; Alonso, Santos Oxford University Press (2013)
      In humans, the geographical apportionment of the coding diversity of the pigmentary locus melanocortin-1 receptor (MC1R) is, unusually, higher in Eurasians than in Africans. This atypical observation has been interpreted ...
    • openAccess   Sun exposure and PDZK1 genotype modulate PDZK1 gene expression in normal skin 

      Hernando, Barbara; Ibarrola-Villava, Maider; Oltra, Sara S.; Valcuende-Cavero, Francisca; Pitarch Bort, Gerard; Mahiques, Laura; Ribas, Gloria; Martinez-Cadenas, Conrado Wiley (2020)
      Human skin pigmentation results from the enzymatically controlled synthesis of melanin pigments in specialized organelles (melano‐somes) produced within epidermal melanocytes, followed by their transfer to neighboring ...