Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

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：:Melanoma is the deadliest form of skin cancer; a primary driver of this high level of morbidity is the propensity of melanoma cells to metastasize. When malignant tumours develop distant metastatic lesions the new local tissue niche is known to impact on the biology of the cancer cells. However, little is known about ...

journal_title：Pigment cell & melanoma research

authors： Ferguson J,Wilcock DJ,McEntegart S,Badrock AP,Levesque M,Dummer R,Wellbrock C,Smith MP

更新日期：2020-01-01 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：: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：: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：: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：: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：: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：: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：: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：: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：: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 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：: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：:Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by mutations in ADAR1. In this study, we performed mutation analysis on a family that included typical DSH patients. No mutations were found in any coding regions or exon-intron boundary regions of ADAR1, but a previously unreported non-...

journal_title：Pigment cell & melanoma research

authors： Suganuma M,Kono M,Yamanaka M,Akiyama M

更新日期：2020-07-01 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：: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 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：: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：: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 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：: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：: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：: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：: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：: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：: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：: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：: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