Genetics of human iris colour and patterns.

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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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