Current opportunities and challenges: genome-wide association studies on pigmentation and skin cancer.

abstract：:The deubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with a high risk of mesothelioma and melanocytic tumors. Here, we show that Bap1 deletion in melanocytes cooperates with the constitutively active, oncogenic form of BRAF (BRAFV600E ) and UV to cause melanoma in mice, albeit at very low freque...

journal_title：Pigment cell & melanoma research

authors： Webster JD,Pham TH,Wu X,Hughes NW,Li Z,Totpal K,Lee HJ,Calses PC,Chaurushiya MS,Stawiski EW,Modrusan Z,Chang MT,Tran C,Lee WP,Chalasani S,Hung J,Sharma N,Chan S,Hotzel K,Talevich E,Shain A,Xu M,Lill J,Dixit

更新日期：2019-03-01 00:00:00

abstract：:The protease-activated receptor-2 (PAR-2) is a seven transmembrane G-protein-coupled receptor that could be activated by serine protease cleavage or by synthetic peptide agonists. We showed earlier that activation of PAR-2 with Ser-Leu-Ile-Gly-Arg-Leu-NH(2) (SLIGRL), a known PAR-2 activating peptide, induces keratinoc...

journal_title：Pigment cell & melanoma research

authors： Lin CB,Chen N,Scarpa R,Guan F,Babiarz-Magee L,Liebel F,Li WH,Kizoulis M,Shapiro S,Seiberg M

更新日期：2008-04-01 00:00:00

abstract：:Uveal melanoma (UVM) is the most common primary intraocular malignancy in adults. With over 50% of patients developing metastatic disease, there is an unmet need for improved diagnostic and therapeutic options. Efforts to understand the molecular biology of the disease have revealed several markers that correlate with...

journal_title：Pigment cell & melanoma research

authors： Londin E,Magee R,Shields CL,Lally SE,Sato T,Rigoutsos I

更新日期：2020-01-01 00:00:00

abstract：:The quantification of melanins is a complex task due to the chemical heterogeneity of the pigments and the difficulty of their isolation. The best accepted procedure currently consists in the chemical cleavage of melanins and the subsequent detection of degradation products by HPLC, which implies the destruction of sa...

journal_title：Pigment cell & melanoma research

authors： Galván I,Jorge A,Ito K,Tabuchi K,Solano F,Wakamatsu K

更新日期：2013-11-01 00:00:00

abstract：:Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here, we characterize the recombinant human t...

journal_title：Pigment cell & melanoma research

authors： Dolinska MB,Kus NJ,Farney SK,Wingfield PT,Brooks BP,Sergeev YV

更新日期：2017-01-01 00:00:00

abstract：:Mutations within the OCA2 gene or the complete absence of the OCA2 protein leads to oculocutaneous albinism type 2. The OCA2 protein plays a central role in melanosome biogenesis, and it is a strong determinant of the eumelanin content in melanocytes. Transcript levels of the OCA2 gene are strongly correlated with pig...

journal_title：Pigment cell & melanoma research

authors： Visser M,Kayser M,Grosveld F,Palstra RJ

更新日期：2014-03-01 00:00:00

abstract：:Evidence on the relationship between the vitamin D pathway and outcomes in melanoma is growing, although it is not always clear. We investigated the impact of measured levels of sun exposure at diagnosis on associations of vitamin D receptor gene (VDR) polymorphisms and melanoma death in 3336 incident primary melanoma...

journal_title：Pigment cell & melanoma research

authors： Orlow I,Shi Y,Kanetsky PA,Thomas NE,Luo L,Corrales-Guerrero S,Cust AE,Sacchetto L,Zanetti R,Rosso S,Armstrong BK,Dwyer T,Venn A,Gallagher RP,Gruber SB,Marrett LD,Anton-Culver H,Busam K,Begg CB,Berwick M,GEM Study

更新日期：2018-03-01 00:00:00

abstract：:Hair pigmentation is one of the most conspicuous phenotypes in humans. Melanocytes produce two distinct types of melanin pigment: brown to black, indolic eumelanin and yellow to reddish brown, sulfur-containing pheomelanin. Biochemically, the precursor tyrosine and the key enzyme tyrosinase and the tyrosinase-related ...

journal_title：Pigment cell & melanoma research

authors： Ito S,Wakamatsu K

更新日期：2011-02-01 00:00:00

abstract：:Bromodomain and extra-terminal inhibitors (BETi) delay tumor growth, in part, through tumor cell intrinsic alterations and initiation of anti-tumor CD8+ T-cell responses. By contrast, BETi effects on pro-tumoral immune responses remain unclear. Here, we show that the next-generation BETi, PLX51107, delayed tumor growt...

journal_title：Pigment cell & melanoma research

authors： Erkes DA,Rosenbaum SR,Field CO,Chervoneva I,Villanueva J,Aplin AE

更新日期：2020-03-01 00:00:00

abstract：:One of the main advantages of using inducible and conditional transgenes to study pigment cell biology is that they allow for genetic manipulation within melanocytes after roles in general neural crest or melanoblast development have been fulfilled. Specifically, we focus here on the ability of the Tyr::CreER(T) ...

journal_title：Pigment cell & melanoma research

authors： Harris ML,Pavan WJ

更新日期：2013-03-01 00:00:00

abstract：:Melanoma central nervous system metastases are increasing, and the challenges presented by this patient population remain complex. In December 2015, the Melanoma Research Foundation and the Wistar Institute hosted the First Summit on Melanoma Central Nervous System (CNS) Metastases in Philadelphia, Pennsylvania. Here,...

journal_title：Pigment cell & melanoma research

authors： Cohen JV,Tawbi H,Margolin KA,Amravadi R,Bosenberg M,Brastianos PK,Chiang VL,de Groot J,Glitza IC,Herlyn M,Holmen SL,Jilaveanu LB,Lassman A,Moschos S,Postow MA,Thomas R,Tsiouris JA,Wen P,White RM,Turnham T,Davies M

更新日期：2016-11-01 00:00:00

abstract：:Binding of melanocortin peptide agonists to the melanocortin-1 receptor of melanocytes results in eumelanin production, whereas binding of the agouti signalling protein inverse agonist results in pheomelanin synthesis. Recently, a novel melanocortin-1 receptor ligand was reported. A β-defensin gene mutation was found ...

journal_title：Pigment cell & melanoma research

authors： Beaumont KA,Smit DJ,Liu YY,Chai E,Patel MP,Millhauser GL,Smith JJ,Alewood PF,Sturm RA

更新日期：2012-05-01 00:00:00

abstract：:We examined nevi and melanomas in 10 xeroderma pigmentosum (XP) patients with defective DNA repair. The lesions had a lentiginous appearance with markedly increased numbers of melanocytes. Using laser capture microdissection, we performed DNA sequencing of 18 benign and atypical nevi and 75 melanomas (melanoma in situ...

journal_title：Pigment cell & melanoma research

authors： Masaki T,Wang Y,DiGiovanna JJ,Khan SG,Raffeld M,Beltaifa S,Hornyak TJ,Darling TN,Lee CC,Kraemer KH

更新日期：2014-05-01 00:00:00

abstract：:Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, OCA), or only the eye...

journal_title：Pigment cell & melanoma research

authors： Montoliu L,Grønskov K,Wei AH,Martínez-García M,Fernández A,Arveiler B,Morice-Picard F,Riazuddin S,Suzuki T,Ahmed ZM,Rosenberg T,Li W

更新日期：2014-01-01 00:00:00

abstract：:Melanoma is a disease associated with a very high mutation burden and thus the possibility of a diverse range of oncogenic mechanisms that allow it to evade therapeutic interventions and the immune system. Here, we describe the characterization of a panel of 102 cell lines from metastatic melanomas (the NZM lines), in...

journal_title：Pigment cell & melanoma research

authors： Tran KB,Gimenez G,Tsai P,Kolekar S,Rodger EJ,Chatterjee A,Jabed A,Shih JH,Joseph WR,Marshall ES,Wang Q,Print CG,Eccles MR,Baguley BC,Shepherd PR

更新日期：2021-01-01 00:00:00

abstract：:The Melanoma Research Foundation (MRF) has charted a comprehensive assessment of the current state of melanoma research and care. Intensive discussions among members of the MRF Scientific Advisory Council and Breakthrough Consortium, a group that included clinicians and scientists, focused on four thematic areas - dia...

journal_title：Pigment cell & melanoma research

authors： Merlino G,Herlyn M,Fisher DE,Bastian BC,Flaherty KT,Davies MA,Wargo JA,Curiel-Lewandrowski C,Weber MJ,Leachman SA,Soengas MS,McMahon M,Harbour JW,Swetter SM,Aplin AE,Atkins MB,Bosenberg MW,Dummer R,Gershenwald JE,Ha

更新日期：2016-07-01 00:00:00

abstract：:The 4th international melanoma congress of the Society for Melanoma Research (SMR), organized by Marianne Berwick (University of New Mexico), Paul Chapman (Memorial Sloan-Kettering Cancer Center), Rene Gonzalez (University of Colorado) and Ze'ev Ronai (Burnham Institute), was held at the Marriott Hotel in downtown New...

journal_title：Pigment cell & melanoma research

authors： Fisher DE,Medrano EE,McMahon M,Soengas MS,Schuchter L,Wolchok JD,Merlino G

更新日期：2008-02-01 00:00:00

abstract：:Two biological processes regulate light-induced skin colour change. A fast 'physiological pigmentation change' (i.e. circadian variations or camouflage) involves alterations in the distribution of pigment containing granules in the cytoplasm of chromatophores, while a slower 'morphological pigmentation change' (i.e. s...

journal_title：Pigment cell & melanoma research

authors： Bertolesi GE,Hehr CL,Munn H,McFarlane S

更新日期：2016-11-01 00:00:00

abstract：:Melanins (eumelanin and pheomelanin) are synthesized in insects for several purposes including cuticle sclerotization and color patterning, clot formation, organogenesis, and innate immunity. Traditional views of insect immunity detail the storage of pro-phenoloxidases inside specialized blood cells (hemocytes) and th...

journal_title：Pigment cell & melanoma research

authors： Whitten MMA,Coates CJ

更新日期：2017-07-01 00:00:00

abstract：:Metastatic melanoma is extremely refractory to existing chemotherapeutic drugs and bioimmune adjuvant therapies, and the life span of patients with metastatic melanoma is often measured in months. Understanding the mechanisms responsible for the development of tumor metastasis is critical for finding successful curati...

journal_title：Pigment cell & melanoma research

authors： Melnikova VO,Bar-Eli M

更新日期：2009-06-01 00:00:00

abstract：:Acral melanoma is a rare melanoma subtype with distinct epidemiological, clinical and genetic features. To determine if acral melanoma cell lines are representative of this melanoma subtype, six lines were analysed by whole-exome sequencing and array comparative genomic hybridisation. We demonstrate that the cell line...

journal_title：Pigment cell & melanoma research

authors： Furney SJ,Turajlic S,Fenwick K,Lambros MB,MacKay A,Ricken G,Mitsopoulos C,Kozarewa I,Hakas J,Zvelebil M,Lord CJ,Ashworth A,Reis-Filho JS,Herlyn M,Murata H,Marais R

更新日期：2012-07-01 00:00:00

abstract：:The advent of immune checkpoint blockers and targeted therapies has changed the outcome of melanoma. However, many patients experience relapses, emphasizing the need for predictive and prognostic biomarkers. We developed a strategy based on plasmacytoid dendritic cells (pDCs) loaded with melanoma tumor antigens that a...

journal_title：Pigment cell & melanoma research

authors： Charles J,Chaperot L,Revol B,Baudin M,Mouret S,Hamon A,Leccia MT,Plumas J,Aspord C

更新日期：2018-01-01 00:00:00

abstract：:Zebrafish respond to visual stimuli to adapt their body colour to the background. If, rather than being a simple on/off reaction to visual stimulation, the colour change involves cognitive and memory-related processes, training fish with cyclical changes of the background would be expected to increase its ability to c...

journal_title：Pigment cell & melanoma research

authors： Hatamoto K,Shingyoji C

更新日期：2008-06-01 00:00:00

abstract：:Although L-tyrosine is well known for its melanogenic effect, the contribution of D-tyrosine to melanin synthesis was previously unexplored. Here, we reveal that, unlike L-tyrosine, D-tyrosine dose-dependently reduced the melanin contents of human MNT-1 melanoma cells and primary human melanocytes. In addition, 500 μM...

journal_title：Pigment cell & melanoma research

authors： Park J,Jung H,Kim K,Lim KM,Kim JY,Jho EH,Oh ES

更新日期：2018-05-01 00:00:00

abstract：:Oculocutaneous albinism (OCA) is caused by mutations in six different genes, and their molecular diagnosis encompasses the search for point mutations and intragenic rearrangements. Here, we used high-resolution array-comparative genome hybridization (CGH) to search for rearrangements across exons, introns and regulato...

journal_title：Pigment cell & melanoma research

authors： Morice-Picard F,Lasseaux E,Cailley D,Gros A,Toutain J,Plaisant C,Simon D,François S,Gilbert-Dussardier B,Kaplan J,Rooryck C,Lacombe D,Arveiler B

更新日期：2014-01-01 00:00:00

abstract：:A SNP within intron4 of the interferon regulatory factor4 (IRF4) gene, rs12203592*C/T, has been independently associated with pigmentation and age-specific effects on naevus count in European-derived populations. We have characterized the cis-regulatory activity of this intronic region and using human foreskin-derived...

journal_title：Pigment cell & melanoma research

authors： Chhabra Y,Yong HXL,Fane ME,Soogrim A,Lim W,Mahiuddin DN,Kim RSQ,Ashcroft M,Beatson SA,Ainger SA,Smit DJ,Jagirdar K,Walker GJ,Sturm RA,Smith AG

更新日期：2018-01-01 00:00:00

abstract：:In February 2018, the Melanoma Research Foundation and the Moffitt Cancer Center hosted the Second Summit on Melanoma Central Nervous System Metastases in Tampa, Florida. The meeting included investigators from multiple academic centers and disciplines. A consensus summary of the progress and challenges in melanoma pa...

journal_title：Pigment cell & melanoma research

authors： Glitza IC,Smalley KSM,Brastianos PK,Davies MA,McCutcheon I,Liu JKC,Ahmed KA,Arrington JA,Evernden BR,Smalley I,Eroglu Z,Khushalani N,Margolin K,Kluger H,Atkins MB,Tawbi H,Boire A,Forsyth P

更新日期：2020-07-01 00:00:00

abstract：:Several studies observed that adiponectin, an important adipokine that improves glucose metabolism by regulating AMP-activated protein kinase (AMPK) signaling, is dermatologically beneficial. In our recent microarray data, we found that adiponectin expression was lower in lesional skin than in non-lesional skin of mel...

journal_title：Pigment cell & melanoma research

authors： Bang S,Won KH,Moon HR,Yoo H,Hong A,Song Y,Chang SE

更新日期：2017-01-01 00:00:00

abstract：:Transcription factors initiate programs of gene expression and are catalysts in downstream molecular cascades that modulate a variety of cellular processes. Pax3 is a transcription factor that is important in the melanocyte and influences melanocytic proliferation, resistance to apoptosis, migration, lineage specifici...

journal_title：Pigment cell & melanoma research

authors： Kubic JD,Young KP,Plummer RS,Ludvik AE,Lang D

更新日期：2008-12-01 00:00:00

abstract：:PMEL is a pigment cell-specific protein responsible for the formation of fibrillar sheets within the pigment organelle, the melanosome. The fibrillar sheets serve as a template upon which melanins polymerize as they are synthesized. The PMEL fibrils are required for optimal pigment cell function, as animals that eithe...

journal_title：Pigment cell & melanoma research

authors： Watt B,van Niel G,Raposo G,Marks MS

更新日期：2013-05-01 00:00:00