High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

abstract：:Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year-old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asympto...

journal_title：Pigment cell & melanoma research

authors： Etchevers HC,Rose C,Kahle B,Vorbringer H,Fina F,Heux P,Berger I,Schwarz B,Zaffran S,Macagno N,Krengel S

更新日期：2018-05-01 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：:While sunlight is important for life, ultraviolet radiation (UVR) can have harmful and mutagenic effects. This duality is particularly relevant to human skin, in which UVR both participates in evolutionarily important photochemical reactions yet may act as a potential carcinogen. UVR can upregulate production of melan...

journal_title：Pigment cell & melanoma research

authors： Liu JJ,Fisher DE

更新日期：2010-12-01 00:00:00

abstract：:The complex genetic changes underlying metastatic melanoma need to be deciphered to develop new and effective therapeutics. Previously, genome-wide microarray analyses of human melanoma identified two reciprocal gene expression programs, including transcripts regulated by either transforming growth factor, beta 1 (TGF...

journal_title：Pigment cell & melanoma research

authors： Hwang HW,Baxter LL,Loftus SK,Cronin JC,Trivedi NS,Borate B,Pavan WJ

更新日期：2014-09-01 00:00:00

abstract：:Microphthalmia-associated transcription factor (MITF) is a survival factor in melanocytes and melanoma cells. MITF regulates expression of antiapoptotic genes and promotes lineage-specific survival in response to ultraviolet (UV) radiation and to chemotherapeutics. SWI/SNF chromatin-remodeling enzymes interact with MI...

journal_title：Pigment cell & melanoma research

authors： Saladi SV,Wong PG,Trivedi AR,Marathe HG,Keenen B,Aras S,Liew ZQ,Setaluri V,de la Serna IL

更新日期：2013-05-01 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：: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：: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：: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：:There are many techniques for evaluating melanosome transfer to keratinocytes but the spectrophotometric quantification of melanosomes incorporated by keratinocyte phagocytosis has not been previously reported. Here we describe a new method that allows the spectrophotometric visualization of melanosome uptake by norma...

journal_title：Pigment cell & melanoma research

authors： Ando H,Niki Y,Yoshida M,Ito M,Akiyama K,Kim JH,Yoon TJ,Lee JH,Matsui MS,Ichihashi M

更新日期：2010-02-01 00:00:00

abstract：:Copy number variations (CNVs) have been shown to contribute substantially to disease susceptibility in several inherited diseases including cancer. We conducted a genome-wide search for CNVs in blood-derived DNA from 79 individuals (62 melanoma patients and 17 spouse controls) of 30 high-risk melanoma-prone families w...

journal_title：Pigment cell & melanoma research

authors： Yang XR,Brown K,Landi MT,Ghiorzo P,Badenas C,Xu M,Hayward NK,Calista D,Landi G,Bruno W,Bianchi-Scarrà G,Aguilera P,Puig S,Goldstein AM,Tucker MA

更新日期：2012-03-01 00:00:00

abstract：:Melanoma patients with BRAFV600E -mutant tumors display striking responses to BRAF inhibitors (BRAFi); however, almost all invariably relapse with drug-resistant disease. Here, we report that microRNA-125a (miR-125a) expression is upregulated in human melanoma cells and patient tissues upon acquisition of BRAFi resist...

journal_title：Pigment cell & melanoma research

authors： Koetz-Ploch L,Hanniford D,Dolgalev I,Sokolova E,Zhong J,Díaz-Martínez M,Bernstein E,Darvishian F,Flaherty KT,Chapman PB,Tawbi H,Hernando E

更新日期：2017-05-01 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：: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：:The tricarboxylic acid (TCA) cycle is the central hub of oxidative metabolism, running in the classic forward direction to provide carbon for biosynthesis and reducing agents for generation of ATP. Our metabolic tracer studies in melanoma cells showed that in hypoxic conditions the TCA cycle is largely disconnected fr...

journal_title：Pigment cell & melanoma research

authors： Filipp FV,Scott DA,Ronai ZA,Osterman AL,Smith JW

更新日期：2012-05-01 00:00:00

abstract：:Oncogenic BRAF and NRAS mutations drive human melanoma initiation. We used transgenic zebrafish to model NRAS-mutant melanoma, and the rapid tumor onset allowed us to study candidate tumor suppressors. We identified P38α-MAPK14 as a potential tumor suppressor in The Cancer Genome Atlas melanoma cohort of NRAS-mutant m...

journal_title：Pigment cell & melanoma research

authors： Banik I,Cheng PF,Dooley CM,Travnickova J,Merteroglu M,Dummer R,Patton EE,Busch-Nentwich EM,Levesque MP

更新日期：2020-09-10 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：: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：:Hair color and skin color are frequently coordinated in mammalian species. To explore this, we have studied mutations in two different G protein coupled pathways, each of which affects the darkness of both hair and skin color. In each mouse mutant (Gnaq(Dsk1), Gna11(Dsk7), and Mc1r(e)), we analyzed the melanocyte dens...

journal_title：Pigment cell & melanoma research

authors： Van Raamsdonk CD,Barsh GS,Wakamatsu K,Ito S

更新日期：2009-12-01 00:00:00

abstract：:In response to the dynamic intra-tumor microenvironment, melanoma cells adopt distinct phenotypic states associated with differential expression of the microphthalmia-associated transcription factor (MITF). The response to hypoxia is driven by hypoxia-inducible transcription factors (HIFs) that reprogram metabolism an...

journal_title：Pigment cell & melanoma research

authors： Louphrasitthiphol P,Ledaki I,Chauhan J,Falletta P,Siddaway R,Buffa FM,Mole DR,Soga T,Goding CR

更新日期：2019-11-01 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：: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：: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：: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：: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：: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：: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：:The Wnt/beta-catenin signaling pathway is involved in the melanocyte differentiation and melanoma development. However, the effect of beta-catenin for dendrite formation has not been clearly elucidated yet in normal human epidermal melanocytes (NHEM). To investigate the effect of beta-catenin, we transduced NHEM with ...

journal_title：Pigment cell & melanoma research

authors： Kim JH,Sohn KC,Choi TY,Kim MY,Ando H,Choi SJ,Kim S,Lee YH,Lee JH,Kim CD,Yoon TJ

更新日期：2010-06-01 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：: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