Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.

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：:Many melanoma cells are resistant to the anti-proliferative effect of all trans retinoic acid (ATRA). Retinoic Acid Receptor-beta2 (RAR-beta2) mediates the ATRA growth inhibition. We found a correlation between the anti-proliferative activity of ATRA and expression of RAR-beta2. There was not a strict correlation betw...

journal_title：Pigment cell & melanoma research

authors： Fan J,Eastham L,Varney ME,Hall A,Adkins NL,Chetel L,Sollars VE,Georgel P,Niles RM

更新日期：2010-06-01 00:00:00

abstract：:We have recently reported that human melanoma cells express a variety of voltage-gated calcium (Ca(2+) ) channel types, including low-voltage-activated T-type channels that play a significant role in melanoma cell cycle progression. Here, we challenged melanoma metastatic cells with T-type channel blockers of clinical...

journal_title：Pigment cell & melanoma research

authors： Das A,Pushparaj C,Herreros J,Nager M,Vilella R,Portero M,Pamplona R,Matias-Guiu X,Martí RM,Cantí C

更新日期：2013-11-01 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：: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：:Converging lines of evidence from varied scientific disciplines suggest that cutaneous melanomas comprise biologically distinct subtypes that arise through multiple causal pathways. Understanding the respective relationships of each subtype with etiologic factors such as UV radiation and constitutional factors is the ...

journal_title：Pigment cell & melanoma research

authors： Whiteman DC,Pavan WJ,Bastian BC

更新日期：2011-10-01 00:00:00

abstract：:Melanoma is the deadliest form of skin cancer; a primary driver of this high level of morbidity is the propensity of melanoma cells to metastasize. When malignant tumours develop distant metastatic lesions the new local tissue niche is known to impact on the biology of the cancer cells. However, little is known about ...

journal_title：Pigment cell & melanoma research

authors： Ferguson J,Wilcock DJ,McEntegart S,Badrock AP,Levesque M,Dummer R,Wellbrock C,Smith MP

更新日期：2020-01-01 00:00:00

abstract：:Retinoic acid (RA) is considered to control melanocytes; however, its precise mechanism remains unclear because of a bimodal effect, which promotes or inhibits melanin synthesis depending on the cell type, culture condition of melanocytes and skin conditions. In this study, we examined the effects of RA throughout eac...

journal_title：Pigment cell & melanoma research

authors： Inoue Y,Hasegawa S,Yamada T,Date Y,Mizutani H,Nakata S,Matsunaga K,Akamatsu H

更新日期：2012-05-01 00:00:00

abstract：:Induced pluripotent stem cell (iPSC) technology offers a novel approach for conversion of human primary fibroblasts into melanocytes. During attempts to explore various protocols for differentiation of iPSCs into melanocytes, we found a distinct and self-renewing cell lineage that could differentiate into melanocytes,...

journal_title：Pigment cell & melanoma research

authors： Hosaka C,Kunisada M,Koyanagi-Aoi M,Masaki T,Takemori C,Taniguchi-Ikeda M,Aoi T,Nishigori C

更新日期：2019-09-01 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：: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：:BRAF inhibitors improve melanoma patient survival, but resistance invariably develops. Here we report the discovery of a novel BRAF mutation that confers resistance to PLX4032 employing whole-exome sequencing of drug-resistant BRAF(V600K) melanoma cells. We further describe a new screening approach, a genome-wide pigg...

journal_title：Pigment cell & melanoma research

authors： Choi J,Landrette SF,Wang T,Evans P,Bacchiocchi A,Bjornson R,Cheng E,Stiegler AL,Gathiaka S,Acevedo O,Boggon TJ,Krauthammer M,Halaban R,Xu T

更新日期：2014-03-01 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：: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：:The novel mutation named ru2(d) /Hps5(ru2-d) , characterized by light-colored coats and ruby-eyes, prohibits differentiation of melanocytes by inhibiting tyrosinase (Tyr) activity, expression of Tyr, Tyr-related protein 1 (Tyrp1), Tyrp2, and Kit. However, it is not known whether the ru2(d) allele affects pheomelanin s...

journal_title：Pigment cell & melanoma research

authors： Hirobe T,Ito S,Wakamatsu K

更新日期：2013-09-01 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：: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：: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：:From a therapeutic standpoint, vitiligo is still regarded by many physicians as a simple problem of regenerative medicine, with the main aim to repopulate the depigmented skin with functional melanocytes from the margins of the lesions or from intact progenitors in hair follicles. However, recent research in vitiligo ...

journal_title：Pigment cell & melanoma research

authors： Taïeb A

更新日期：2012-01-01 00:00:00

abstract：:Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles. Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS-1 have been reported in Chine...

journal_title：Pigment cell & melanoma research

authors： Wei A,Yuan Y,Bai D,Ma J,Hao Z,Zhang Y,Yu J,Zhou Z,Yang L,Yang X,Li L,Li W

更新日期：2016-11-01 00:00:00

abstract：:The aim of present study was to evaluate CD4(+) /CD8(+) ratio and CD4(+) CD25(hi) FoxP3(+) Tregs in GV patients with reference to their effect on disease onset and progression. Flow cytometry was used for determination of CD4(+) /CD8(+) ratio and Tregs in 82 patients and 50 controls. CD8(+) T-cell counts were signific...

journal_title：Pigment cell & melanoma research

authors： Dwivedi M,Laddha NC,Arora P,Marfatia YS,Begum R

更新日期：2013-07-01 00:00:00

abstract：:Mice lacking the E3 ubiquitin ligase mahogunin ring finger-1 (MGRN1) have a pleiotropic phenotype that includes spongiform neurodegeneration, embryonic patterning defects, and dark fur due to a defect in pigment-type switching. The only MGRN1 ubiquitination target identified to date is tumor susceptibility gene 101 (T...

journal_title：Pigment cell & melanoma research

authors： Gunn TM,Silvius D,Bagher P,Sun K,Walker KK

更新日期：2013-03-01 00:00:00

abstract：:Monobenzone is a 4-substituted phenol that can induce vitiligo and antimelanoma immunity. We investigated the influence of the chemical structure on the biological activity of a series of structurally related 4-substituted phenols. All phenols inhibited cellular melanin synthesis, and eight of ten phenols inhibited ty...

journal_title：Pigment cell & melanoma research

authors： Kammeyer A,Willemsen KJ,Ouwerkerk W,Bakker WJ,Ratsma D,Pronk SD,Smit NPM,Luiten RM

更新日期：2019-07-01 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：:We have previously shown that Wnt5A-mediated signaling can promote melanoma metastasis. It has been shown that Wnt signaling is antagonized by the protein Klotho, which has been implicated in aging. We show here that in melanoma cells, expressions of Wnt5A and Klotho are inversely correlated. In the presence of recomb...

journal_title：Pigment cell & melanoma research

authors： Camilli TC,Xu M,O'Connell MP,Chien B,Frank BP,Subaran S,Indig FE,Morin PJ,Hewitt SM,Weeraratna AT

更新日期：2011-02-01 00:00:00

abstract：:NDRG2 (N-myc downstream-regulated gene 2) is a candidate tumor suppressor implicated in control of glioblastoma proliferation and dendritic cell differentiation. The microphthalmia-associated transcription factor (Mitf) plays a crucial role in the melanocyte lineage and in melanoma by controlling survival, differentia...

journal_title：Pigment cell & melanoma research

authors： Kim A,Yang Y,Lee MS,Yoo YD,Lee HG,Lim JS

更新日期：2008-12-01 00:00:00

abstract：:RS-4-(4-Hydroxyphenyl)-2-butanol (rhododendrol, RD) was reported to induce leukoderma of the skin. To explore the mechanism underlying that effect, we previously showed that oxidation of RD with mushroom tyrosinase produces RD-quinone, which is converted to secondary quinone products, and we suggested that those quino...

journal_title：Pigment cell & melanoma research

authors： Ito S,Okura M,Nakanishi Y,Ojika M,Wakamatsu K,Yamashita T

更新日期：2015-05-01 00:00:00

abstract：:Some familial forms of the dermatological condition vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1. Here, we review what is currently known about the mechanisms that regulate activation of the NLRP1 protein and the downstream effects of NLRP1 on pathways impacting inflammation a...

journal_title：Pigment cell & melanoma research

authors： D'Osualdo A,Reed JC

更新日期：2012-01-01 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