Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria.

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：: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：: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：: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：: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：:Human melanomas exhibit relatively high somatic mutation burden compared to other malignancies. These somatic mutations may produce neoantigens that are recognized by the immune system, leading to an antitumor response. By irradiating a parental mouse melanoma cell line carrying three driver mutations with UVB and exp...

journal_title：Pigment cell & melanoma research

authors： Wang J,Perry CJ,Meeth K,Thakral D,Damsky W,Micevic G,Kaech S,Blenman K,Bosenberg M

更新日期：2017-07-01 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：: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：: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：: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：: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：: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：: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：: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：: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：: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 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：: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：:Normal cells possess a limited proliferative life span, after which they enter a state of irreversible growth arrest, called replicative senescence, which acts as a potent barrier against transformation. Transformed cells have escaped the process of replicative senescence and theoretically can not re-enter senescence....

journal_title：Pigment cell & melanoma research

authors： Giuliano S,Ohanna M,Ballotti R,Bertolotto C

更新日期：2011-04-01 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：:Melasma is a common hyperpigmentary disorder. The impact on the quality of life of affected individuals is well demonstrated, demanding new therapeutic strategies. However, the treatment of melasma remains highly challenging. Melasma is often considered as the main consequence of female hormone stimulation on a predis...

journal_title：Pigment cell & melanoma research

authors： Passeron T,Picardo M

更新日期：2018-07-01 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：: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：: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 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：: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：: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：: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：:Oncogenic mutations in BRAF are common in melanoma and drive constitutive activation of the MEK/ERK pathway. To elucidate the transcriptional events downstream of (V600E)BRAF/MEK signalling we performed gene expression profiling of A375 melanoma cells treated with potent and selective inhibitors of (V600E)BRAF and MEK...

journal_title：Pigment cell & melanoma research

authors： Packer LM,East P,Reis-Filho JS,Marais R

更新日期：2009-12-01 00:00:00