| Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity. | Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Kempf E, Landgraf K, Stein R, Hanschkow M, Hilbert A, Abou Jamra R, Boczki P, Herberth G, Kühnapfel A, Tseng YH, Stäubert C, Schöneberg T, Kühnen P, Rayner NW, Zeggini E, Kiess W, Blüher M, Körner A., Free PMC Article | 12/31/2022 |
| ASIP expression is significantly downregulated in human masticatory mucosa during wound healing | Human gingiva transcriptome during wound healing.
Wang Y, Tatakis DN. | 03/22/2017 |
| Polymorphisms of ASIP were found to be associated with skin, hair, and eye color in a phenotypically diverse Brazilian population. More research is needed to determine its usefulness in forensic science. | SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes.
Lima FA, Gonçalves FT, Fridman C. | 03/26/2016 |
| ASIP gene mutation is involved in the development of facial pigmented lesions. | A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.
Jacobs LC, Hamer MA, Gunn DA, Deelen J, Lall JS, van Heemst D, Uh HW, Hofman A, Uitterlinden AG, Griffiths CEM, Beekman M, Slagboom PE, Kayser M, Liu F, Nijsten T. | 09/12/2015 |
| Data show that ASIP TG/TG diplotype, which is known to be associated with melanoma risk, was linked to a 5-fold increase in hazard of death from melanoma. | Inherited variation at MC1R and ASIP and association with melanoma-specific survival.
Taylor NJ, Reiner AS, Begg CB, Cust AE, Busam KJ, Anton-Culver H, Dwyer T, From L, Gallagher RP, Gruber SB, Rosso S, White KA, Zanetti R, Orlow I, Thomas NE, Rebbeck TR, Berwick M, Kanetsky PA, GEM Study Group., Free PMC Article | 06/6/2015 |
| An increased risk of melanoma (odds ratio [OR] 1.27, 95% confidence interval [95% CI] 1.03-1.57) in carriers of the rs4911414 variant, located 120 kb upstream of ASIP. | Variants at chromosome 20 (ASIP locus) and melanoma risk.
Maccioni L, Rachakonda PS, Scherer D, Bermejo JL, Planelles D, Requena C, Hemminki K, Nagore E, Kumar R. | 03/30/2013 |
| By using a population-based material of high-risk melanoma cases, we demonstrate a significant effect of both MC1R red hair color (RHC) variants and an ASIP haplotype, but could not replicate an association with postulated risk SNPs of TYR and TYRP1. | MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.
Helsing P, Nymoen DA, Rootwelt H, Vårdal M, Akslen LA, Molven A, Andresen PA. | 09/1/2012 |
| Findings suggest that ASIP locus is associated with a number of non-melanoma skin cancers. | ASIP genetic variants and the number of non-melanoma skin cancers.
Lin W, Qureshi AA, Kraft P, Nan H, Guo Q, Hu FB, Jensen MK, Han J., Free PMC Article | 06/4/2011 |
| Further analysis of binding and functional data suggests that the ASIP C-terminal loop (a six-amino-acid segment closed by the final disulfide bond) is essential for high-affinity MC1R binding and inverse agonism. | Loop-swapped chimeras of the agouti-related protein and the agouti signaling protein identify contacts required for melanocortin 1 receptor selectivity and antagonism.
Patel MP, Cribb Fabersunne CS, Yang YK, Kaelin CB, Barsh GS, Millhauser GL., Free PMC Article | 12/11/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW., Free PMC Article | 12/2/2009 |
| Single nucleotide polymorphisms in ASIP is associated with basal cell carcinoma | Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
Nan H, Kraft P, Hunter DJ, Han J, Nan H, Kraft P, Hunter DJ, Han J., Free PMC Articles: PMC2700213, PMC2700213 | 01/21/2010 |
| Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia | [Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia].
Maliarchuk BA, Perkova MA, Derenko MV, Maliarchuk BA, Perkova MA, Derenko MV. | 01/21/2010 |
| ASIP polymorphism was found not to be associated with skin malignant melanoma or basal cell carcinoma. | The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
Brudnik U, Branicki W, Wojas-Pelc A, Kanas P, Brudnik U, Branicki W, Wojas-Pelc A, Kanas P. | 01/21/2010 |
| Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) | The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
Brudnik U, Branicki W, Wojas-Pelc A, Kanas P, Brudnik U, Branicki W, Wojas-Pelc A, Kanas P. | 07/30/2008 |
| Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair. | Two newly identified genetic determinants of pigmentation in Europeans.
Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Jakobsdottir M, Steinberg S, Gudjonsson SA, Palsson A, Thorleifsson G, Pálsson S, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Vermeulen SH, Goldstein AM, Tucker MA, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. | 01/21/2010 |
| ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. | ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
Gudbjartsson DF, Sulem P, Stacey SN, Goldstein AM, Rafnar T, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Sveinsdottir SG, Magnusson V, Lindblom A, Kostulas K, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Saez B, Andres R, Scherer D, Rudnai P, Gurzau E, Koppova K, Kiemeney LA, Jakobsdottir M, Steinberg S, Helgason A, Gretarsdottir S, Tucker MA, Mayordomo JI, Nagore E, Kumar R, Hansson J, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF, Sulem P, Stacey SN, Goldstein AM, Rafnar T, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Sveinsdottir SG, Magnusson V, Lindblom A, Kostulas K, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Saez B, Andres R, Scherer D, Rudnai P, Gurzau E, Koppova K, Kiemeney LA, Jakobsdottir M, Steinberg S, Helgason A, Gretarsdottir S, Tucker MA, Mayordomo JI, Nagore E, Kumar R, Hansson J, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (3) articles[Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia].
Maliarchuk BA, Perkova MA, Derenko MV, Maliarchuk BA, Perkova MA, Derenko MV. A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.
Voisey J, Gomez-Cabrera Mdel C, Smit DJ, Leonard JH, Sturm RA, van Daal A. Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphism.
Zeigler-Johnson C, Panossian S, Gueye SM, Jalloh M, Ofori-Adjei D, Kanetsky PA. | 03/13/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (7) articlesWeb-based, participant-driven studies yield novel genetic associations for common traits.
Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
Nan H, Kraft P, Hunter DJ, Han J, Nan H, Kraft P, Hunter DJ, Han J. SLC45A2: a novel malignant melanoma-associated gene.
Fernandez LP, Milne RL, Pita G, Avilés JA, Lázaro P, Benítez J, Ribas G. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
Gudbjartsson DF, Sulem P, Stacey SN, Goldstein AM, Rafnar T, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Sveinsdottir SG, Magnusson V, Lindblom A, Kostulas K, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Saez B, Andres R, Scherer D, Rudnai P, Gurzau E, Koppova K, Kiemeney LA, Jakobsdottir M, Steinberg S, Helgason A, Gretarsdottir S, Tucker MA, Mayordomo JI, Nagore E, Kumar R, Hansson J, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF, Sulem P, Stacey SN, Goldstein AM, Rafnar T, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Sveinsdottir SG, Magnusson V, Lindblom A, Kostulas K, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Saez B, Andres R, Scherer D, Rudnai P, Gurzau E, Koppova K, Kiemeney LA, Jakobsdottir M, Steinberg S, Helgason A, Gretarsdottir S, Tucker MA, Mayordomo JI, Nagore E, Kumar R, Hansson J, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.
Bonilla C, Boxill LA, Donald SA, Williams T, Sylvester N, Parra EJ, Dios S, Norton HL, Shriver MD, Kittles RA, Bonilla C, Boxill LA, Donald SA, Williams T, Sylvester N, Parra EJ, Dios S, Norton HL, Shriver MD, Kittles RA. A polymorphism in the agouti signaling protein gene is associated with human pigmentation.
Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR, Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR. | 03/13/2008 |
| Cocaine- and amphetamine-regulated transcript protein is colocalized with this protein and neuropeptide Y in human hypothalamus. | Cocaine- and amphetamine-regulated transcript (CART) is colocalized with the orexigenic neuropeptide Y and agouti-related protein and absent from the anorexigenic alpha-melanocyte-stimulating hormone neurons in the infundibular nucleus of the human hypothalamus.
Menyhért J, Wittmann G, Lechan RM, Keller E, Liposits Z, Fekete C. | 01/21/2010 |
| polymorphism in the agouti signaling protein gene is associated with human pigmentation | A polymorphism in the agouti signaling protein gene is associated with human pigmentation.
Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR, Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR., Free PMC Articles: PMC384954, PMC384954 | 01/21/2010 |
| results show that men and women of similar age and BMI present similar agouti signal protein mRNA levels in omental and subcutaneous abdominal adipocytes but a sexual dimorphism exists in the relationship between its expression and BMI | Body mass index-related human adipocyte agouti expression is sex-specific but not depot-specific.
Voisey J, Imbeault P, Hutley L, Prins JB, van Daal A. | 01/21/2010 |
| An important role for exon 17b of ASIP in cancer cells was identified;alternative splicing isoforms ,hASIP-sa, hASIP-sb, had different effects on cell growth and Fas/FasL-mediated apoptosis in BEL-7404 human hepatoma cells. | The effect of isoforms of the cell polarity protein, human ASIP, on the cell cycle and Fas/FasL-mediated apoptosis in human hepatoma cells.
Hu Y, Fang C, Xu Y., Free PMC Article | 01/21/2010 |
| ASIP polymorphism was not associated with pigmentation, nevi, or melanoma risk | MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.
Landi MT, Kanetsky PA, Tsang S, Gold B, Munroe D, Rebbeck T, Swoyer J, Ter-Minassian M, Hedayati M, Grossman L, Goldstein AM, Calista D, Pfeiffer RM. | 01/21/2010 |
| Our study suggests that the ASIP G>A polymorphism exhibits a dominant effect leading to lighter skin color and that variation in the ASIP gene may have been one of several factors contributing to reductions in pigmentation in some populations. | The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.
Bonilla C, Boxill LA, Donald SA, Williams T, Sylvester N, Parra EJ, Dios S, Norton HL, Shriver MD, Kittles RA, Bonilla C, Boxill LA, Donald SA, Williams T, Sylvester N, Parra EJ, Dios S, Norton HL, Shriver MD, Kittles RA. | 01/21/2010 |