The melanocortin-1 receptor gene polymorphism and association with human skin cancer.

scientific article published on 07 October 2009

The melanocortin-1 receptor gene polymorphism and association with human skin cancer. is …
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scholarly articleQ13442814

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P356DOI10.1016/S1877-1173(09)88004-6
P698PubMed publication ID20374726

P50authorKimberley A. BeaumontQ50190182
P2093author name stringRichard A Sturm
Yan Yan Liu
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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va geneQ34431158
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MC1R Expression in Skin: Is it Confined to Melanocytes?Q57390907
Human pigmentation genetics: the difference is only skin deepQ57571704
Two Novel Mutations in the Gonadotropin-Releasing Hormone Receptor Gene in Brazilian Patients with Hypogonadotropic Hypogonadism and Normal OlfactionQ57632775
Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair ColorQ57948627
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Melanocyte function and its control by melanocortin peptidesQ34499612
Biological consequences of cyclobutane pyrimidine dimersQ34505017
Induction of skin tanning by subcutaneous administration of a potent synthetic melanotropinQ34508512
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[Nle4-D-Phe7]-alpha-melanocyte-stimulating hormone significantly increased pigmentation and decreased UV damage in fair-skinned Caucasian volunteersQ34536401
Interactive effects of MC1R and OCA2 on melanoma risk phenotypesQ34544394
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Topical drug rescue strategy and skin protection based on the role of Mc1r in UV-induced tanningQ34567622
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MC1R variants, melanoma and red hair color phenotype: a meta-analysisQ34589701
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The epidemiology of skin cancerQ34609498
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The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentationQ28361790
Chemical characterization of hair melanins in various coat-color mutants of miceQ28510923
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MSH receptor expression and the relationship to melanogenesis and metastatic activity in B16 melanomaQ67855367
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Regulation of tyrosinase synthesis and its processing in the hair follicular melanocytes of the mouse during eumelanogenesis and phaeomelanogenesisQ69216881
Golgi-melanosome relationship in human melanoma in vitroQ69870668
Atmospheric photochemistryQ70124948
Expression of melanocortin 1 receptor in periaqueductal gray matterQ70986697
Proopiomelanocortin gene product regulation in keratinocytesQ71049519
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Mitogen-activated protein kinase pathway and AP-1 are activated during cAMP-induced melanogenesis in B-16 melanoma cellsQ71823491
Val92Met variant of the melanocyte stimulating hormone receptor geneQ71835119
The detection of cyclobutane thymine dimers, (6-4) photolesions and the Dewar photoisomers in sections of UV-irradiated human skin using specific antibodies, and the demonstration of depth penetration effectsQ71962237
Cumulative effects from repeated exposures to suberythemal doses of UVB and UVA in human skinQ72411783
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Interactions of alpha-melanotropin and agouti on B16 melanoma cells: evidence for inverse agonism of agoutiQ73065337
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Polymorphism patterns in the promoter region of the MC1R gene are associated with development of freckles and solar lentiginesQ80198764
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Dimerization of G-protein-coupled receptors: roles in signal transductionQ35592680
Gamma-MSH, sodium metabolism, and salt-sensitive hypertensionQ35648417
Targeting melanocortin receptors as a novel strategy to control inflammation.Q35682900
Melanocortin receptors and erectile functionQ35776539
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The molecular regulation of organelle transport in mammalian retinal pigment epithelial cellsQ36416475
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Characterization of genes modulated during pheomelanogenesis using differential displayQ36487455
The quest for the mechanism of melanin transferQ36513235
Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjectsQ36529026
A golden age of human pigmentation geneticsQ36542192
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Anti-inflammatory and anti-invasive effects of α-melanocyte-stimulating hormone in human melanoma cellsQ36671614
The highly conserved DRY motif of class A G protein-coupled receptors: beyond the ground state.Q36693902
Physiological roles of G protein-coupled receptor kinases and arrestinsQ36737680
Characterisation of D117A and H260A mutations in the melanocortin 1 receptorQ36852318
Molecular modeling of melanocortin receptorsQ36855746
Regulation of eumelanin/pheomelanin synthesis and visible pigmentation in melanocytes by ligands of the melanocortin 1 receptorQ36925751
Crystal structure of the human beta2 adrenergic G-protein-coupled receptorQ27648868
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutantsQ28115855
Genetic association and cellular function of MC1R variant alleles in human pigmentationQ28185942
Expression of the B-cell proliferation marker MUM1 by melanocytic lesions and comparison with S100, gp100 (HMB45), and MelanAQ28201955
Identification of Aim-1 as the underwhiteMouse Mutant and Its Transcriptional Regulation by MITFQ28204392
The role of Kit-ligand in melanocyte development and epidermal homeostasisQ28204716
The patterns of melanosome distribution in keratinocytes of human skin as one determining factor of skin colourQ28205025
The melanocortin systemQ28205910
A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesityQ28206459
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pHQ28213415
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinaseQ28218945
Molecular genetics of human pigmentation diversityQ28238551
Melanocortin-5 receptor deficiency promotes defensive behavior in male miceQ28239723
Melanocortin-5 receptor deficiency reduces a pheromonal signal for aggression in male miceQ28246188
Molecular cloning, expression, and characterization of a fifth melanocortin receptorQ28253614
Genetic determinants of hair, eye and skin pigmentation in EuropeansQ28254206
A melanocortin 1 receptor allele suggests varying pigmentation among NeanderthalsQ28254945
Racial Differences in the Fate of Melanosomes in Human EpidermisQ28256038
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromesQ28257131
Exocrine gland dysfunction in MC5-R-deficient mice: evidence for coordinated regulation of exocrine gland function by melanocortin peptidesQ28257807
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expressionQ28263436
Cloning and functional characterization of a family of receptors for the melanotropic peptidesQ28263520
Molecular cloning of a novel human melanocortin receptorQ28263897
Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transportQ28269029
Genetic evidence for the convergent evolution of light skin in Europeans and East AsiansQ28279959
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humansQ28287208
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P lociQ28288300
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variationQ28292797
Melanocortin receptors form constitutive homo- and heterodimersQ28296933
A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horsesQ28301323
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2Q28302878
Novel MITF targets identified using a two-step DNA microarray strategyQ28303403
Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brainQ28307200
Role of G protein-coupled receptor kinases in the homologous desensitization of the human and mouse melanocortin 1 receptors.Q40471499
G protein-coupled receptor endocytosis in ADP-ribosylation factor 6-depleted cells.Q40482254
alpha-Melanocyte-stimulating hormone protects from ultraviolet radiation-induced apoptosis and DNA damageQ40486926
Agonist-independent, high constitutive activity of the human melanocortin 1 receptor.Q40536387
Skin cancer in African AmericansQ40559262
Functional and phylogenetic analyses of a melanocortin-4 receptor mutation in domestic pigs.Q40597839
Molecular and developmental genetics of mouse coat colorQ40613974
Rate limiting factors in melanocortin 1 receptor signalling through the cAMP pathwayQ40638678
Agouti signal protein regulation in human melanoma cellsQ40678792
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutationsQ40681335
Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function.Q40684596
Ligand-dependent activation of the melanocortin 5 receptor: cAMP production and ryanodine receptor-dependent elevations of [Ca(2+)](I).Q40757866
Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.Q40768939
A dileucine motif targets E-cadherin to the basolateral cell surface in Madin-Darby canine kidney and LLC-PK1 epithelial cells.Q40811578
Impaired resensitization and recycling of the cholecystokinin receptor by co-expression of its second intracellular loopQ40840230
Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotypeQ40936201
Proopiomelanocortin, its derived peptides, and the skinQ40964373
alpha-Melanocyte-stimulating hormone signaling regulates expression of microphthalmia, a gene deficient in Waardenburg syndromeQ40992351
Immunoreactive alpha-melanotropin as an autocrine effector in human melanoma cellsQ41120662
Agouti regulation of intracellular calcium: role of melanocortin receptorsQ41122711
Temperature sensitivity of some mutants of the lutropin/choriogonadotropin receptorQ41143763
Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal glandQ41165786
Molecular cloning of a mouse melanocortin 5 receptor gene widely expressed in peripheral tissues.Q41473442
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.Q42439112
Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropinQ42439507
α-MSH causes a small rise in cAMP but has no effect on basal or ultraviolet-stimulated melanogenesis in human melanocytesQ42465878
MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.Q42494105
Melanocortin 1 receptor variants and skin cancer riskQ42495860
Human melanocytes as a target tissue for hormones: in vitro studies with 1 alpha-25, dihydroxyvitamin D3, alpha-melanocyte stimulating hormone, and beta-estradiolQ42502557
Influence of alpha-melanocyte-stimulating hormone and ultraviolet radiation on the transfer of melanosomes to keratinocytesQ42513562
MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphismQ42522286
Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of miceQ42806933
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitiveQ42816994
Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposureQ43073877
Effects of melanin-induced free radicals on the isolated rat peritoneal mast cellsQ43427729
Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA.Q43581712
Gene admixture in the silk road region of China: evidence from mtDNA and melanocortin 1 receptor polymorphism.Q43604425
Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.Q43922716
The architecture of black and white facial skinQ44090181
Regulation of the human melanocortin 1 receptor expression in epidermal melanocytes by paracrine and endocrine factors and by ultraviolet radiationQ44230285
Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: pigmentation marker, ultrastructural and UV-survival studies.Q44445179
The IFPCS presidential lecture: a chemist's view of melanogenesisQ44445183
Appropriate polarization following pharmacological rescue of V2 vasopressin receptors encoded by X-linked nephrogenic diabetes insipidus alleles involves a conformation of the receptor that also attains mature glycosylationQ44489740
Regulation of melanocortin 1 receptor expression at the mRNA and protein levels by its natural agonist and antagonistQ44590688
Population-based study of natural variation in the melanocortin-1 receptor gene and melanomaQ44634512
Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effectQ44856982
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.Q44891693
Susceptibility and outcome in MS: associations with polymorphisms in pigmentation-related genesQ44947259
The relationship between Na(+)/H(+) exchanger expression and tyrosinase activity in human melanocytesQ44987216
Comparison of structural and chemical properties of black and red human hair melanosomesQ45123491
Tyrosinase gene expression is regulated by p53.Q45711352
Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.Q45941047
A polymorphism study of the human Agouti gene and its association with MC1R.Q46159085
Prolonged treatment of fair-skinned mice with topical forskolin causes persistent tanning and UV protectionQ46195629
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eatingQ46249432
DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals.Q46693239
Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidusQ46828751
Quantitative analysis of MC1R gene expression in human skin cell culturesQ46899227
Melanocytes expressing MC1R polymorphisms associated with red hair color have altered MSH-ligand activated pigmentary responses in coculture with keratinocytesQ46932007
The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolutionQ46968462
The role of the DRY motif of human MC4R for receptor activationQ47294474
P304page(s)85-153
P577publication date2009-10-07
P13046publication type of scholarly workreview articleQ7318358
P1433published inProgress in Molecular Biology and Translational ScienceQ15753415
P1476titleThe melanocortin-1 receptor gene polymorphism and association with human skin cancer
P478volume88

Reverse relations

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