NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.

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：:Oncogenic BRAF mutations are more frequent in cutaneous melanoma occurring at sites with little or moderate sun-induced damage than at sites with severe cumulative solar ultraviolet (UV) damage. We studied cutaneous melanomas from geographic regions with different levels of ambient UV radiation to delineate the relati...

journal_title：Pigment cell & melanoma research

authors： Bauer J,Büttner P,Murali R,Okamoto I,Kolaitis NA,Landi MT,Scolyer RA,Bastian BC

更新日期：2011-04-01 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：: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：: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：: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：: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：: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：: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：: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

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：: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：:Metformin is the most widely used antidiabetic drug that belongs to the biguanide class. It is very well tolerated and has the major clinical advantage of not inducing hypoglycemia. Metformin decreases hepatic glucose production via a mechanism requiring liver kinase B1, which controls the metabolic checkpoint, AMP-ac...

journal_title：Pigment cell & melanoma research

authors： Cerezo M,Tomic T,Ballotti R,Rocchi S

更新日期：2015-01-01 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：:Neuregulin (NRG) signaling through the receptor tyrosine kinase, ERBB3, is required for embryonic development, and dysregulated signaling has been associated with cancer progression. Here, we show that NRG1/ERBB3 signaling inhibits melanocyte (MC) maturation and promotes undifferentiated, migratory and proliferative c...

journal_title：Pigment cell & melanoma research

authors： Buac K,Xu M,Cronin J,Weeraratna AT,Hewitt SM,Pavan WJ

更新日期：2009-12-01 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：: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：: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：: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：: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 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：:A 308-nm excimer laser (EL) has been widely used to treat patients with localized vitiligo. However, data are rare on the influence of EL treatment on the risks of skin cancer. To evaluate the skin cancer risks after long-term EL treatment, we performed a nationwide population-based retrospective cohort study using th...

journal_title：Pigment cell & melanoma research

authors： Bae JM,Eun SH,Oh SH,Shin JH,Kang HY,Kim KH,Lee SC,Choi CW

更新日期：2019-09-01 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：: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：: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 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：:Defining markers of different phenotypic states in melanoma is important for understanding disease progression, determining the response to therapy, and defining the molecular mechanisms underpinning phenotype-switching driven by the changing intratumor microenvironment. The ABCB5 transporter is implicated in drug-res...

journal_title：Pigment cell & melanoma research

authors： Louphrasitthiphol P,Chauhan J,Goding CR

更新日期：2020-01-01 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：:The Dark brown (DB) mutation in chickens reduces expression of black eumelanin and enhances expression of red pheomelanin, but only in certain parts of the plumage. Here, we present genetic evidence that an 8.3-kb deletion upstream of the SOX10 transcription start site is the causal mutation underlying the DB phenotyp...

journal_title：Pigment cell & melanoma research

authors： Gunnarsson U,Kerje S,Bed'hom B,Sahlqvist AS,Ekwall O,Tixier-Boichard M,Kämpe O,Andersson L

更新日期：2011-04-01 00:00:00