Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

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

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：: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：: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：: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：: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 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：: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：: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：: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：:Neurofibromatosis type 1 (NF1) is a frequent genetic disease leading to the development of Schwann cell-derived neurofibromas or melanocytic lesions called café-au-lait macules (CALMs). The molecular mechanisms involved in CALMs formation remain largely unknown. In this report, we show for the first time pathophysiolo...

journal_title：Pigment cell & melanoma research

authors： Larribere L,Wu H,Novak D,Galach M,Bernhardt M,Orouji E,Weina K,Knappe N,Sachpekidis C,Umansky L,Beckhove P,Umansky V,De Schepper S,Kaufmann D,Ballotti R,Bertolotto C,Utikal J

更新日期：2015-07-01 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：: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：: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：: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：:The liver is the organ usually affected by metastatic uveal melanoma (MUM). Current treatments are almost always ineffective and mortality remains high. In this study, copy number variations (CNVs) were identified in 12 metastatic and five matched primary UMs (PUMs). Our data revealed a wide spectrum of genetic altera...

journal_title：Pigment cell & melanoma research

authors： McCarthy C,Kalirai H,Lake SL,Dodson A,Damato BE,Coupland SE

更新日期：2016-01-01 00:00:00

abstract：:Ultraviolet radiation (UVR) can play two roles: induce cellular senescence and convert skin melanocytes into melanoma. To assess whether this conversion might rely on melanocytes having to first acquire a senescent phenotype, we studied the effects of physiological doses of UVR (UVA + UVB) on quiescent melanocytes in ...

journal_title：Pigment cell & melanoma research

authors： Sha J,Arbesman J,Harter ML

更新日期：2020-09-01 00:00:00

abstract：:The presence of melanin pigment within the iris is responsible for the visual impression of human eye colouration with complex patterns also evident in this tissue, including Fuchs' crypts, nevi, Wolfflin nodules and contraction furrows. The genetic basis underlying the determination and inheritance of these traits ha...

journal_title：Pigment cell & melanoma research

authors： Sturm RA,Larsson M

更新日期：2009-10-01 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：: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：: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：:We investigated the contributions of Tyrp1 and Gpnmb to the iris transillumination defect (TID) in five age cohorts of BXD mice. Using systems genetics, we also evaluated the role of other known pigmentation genes (PGs). Mapping studies indicate that Tyrp1 contributes to the phenotype at all ages, yet the TID maps to ...

journal_title：Pigment cell & melanoma research

authors： Swaminathan S,Lu H,Williams RW,Lu L,Jablonski MM

更新日期：2013-07-01 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：: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：: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：: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：:From the onset of melanocyte specification from the neural crest, throughout their migration during embryogenesis and until they reside in their niche in the basal keratinocyte layer, melanocytes interact in dynamic ways with the extracellular environment of the growing embryo. To recognize and to adhere to their envi...

journal_title：Pigment cell & melanoma research

authors： Pinon P,Wehrle-Haller B

更新日期：2011-04-01 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：: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