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Items: 1 to 20 of 46

1.

Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic.

Watt B, Tenza D, Lemmon MA, Kerje S, Raposo G, Andersson L, Marks MS.

PLoS Genet. 2011 Sep;7(9):e1002286. doi: 10.1371/journal.pgen.1002286. Epub 2011 Sep 15.

2.

Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: application to chemical analysis of human hair melanins.

Ito S, Nakanishi Y, Valenzuela RK, Brilliant MH, Kolbe L, Wakamatsu K.

Pigment Cell Melanoma Res. 2011 Aug;24(4):605-13. doi: 10.1111/j.1755-148X.2011.00864.x. Epub 2011 May 17.

PMID:
21535429
3.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

4.

Melanocyte-like cells in the heart and pulmonary veins contribute to atrial arrhythmia triggers.

Levin MD, Lu MM, Petrenko NB, Hawkins BJ, Gupta TH, Lang D, Buckley PT, Jochems J, Liu F, Spurney CF, Yuan LJ, Jacobson JT, Brown CB, Huang L, Beermann F, Margulies KB, Madesh M, Eberwine JH, Epstein JA, Patel VV.

J Clin Invest. 2009 Nov;119(11):3420-36. doi: 10.1172/JCI39109. Epub 2009 Oct 12.

5.

N-terminal domains elicit formation of functional Pmel17 amyloid fibrils.

Watt B, van Niel G, Fowler DM, Hurbain I, Luk KC, Stayrook SE, Lemmon MA, Raposo G, Shorter J, Kelly JW, Marks MS.

J Biol Chem. 2009 Dec 18;284(51):35543-55. doi: 10.1074/jbc.M109.047449.

6.

The Dominant white mutation in the PMEL17 gene does not cause visual impairment in chickens.

Karlsson AC, Kerje S, Hallböök F, Jensen P.

Vet Ophthalmol. 2009 Sep-Oct;12(5):292-8. doi: 10.1111/j.1463-5224.2009.00714.x.

PMID:
19751488
7.

Genome-wide association study identifies three loci associated with melanoma risk.

Bishop DT, Demenais F, Iles MM, Harland M, Taylor JC, Corda E, Randerson-Moor J, Aitken JF, Avril MF, Azizi E, Bakker B, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Chin-A-Woeng T, Debniak T, Galore-Haskel G, Ghiorzo P, Gut I, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Kanetsky PA, Kefford RF, Landi MT, Lang J, Lubiński J, Mackie R, Malvehy J, Mann GJ, Martin NG, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Puig S, Weiss M, van Workum W, Zelenika D, Brown KM, Goldstein AM, Gillanders EM, Boland A, Galan P, Elder DE, Gruis NA, Hayward NK, Lathrop GM, Barrett JH, Bishop JA.

Nat Genet. 2009 Aug;41(8):920-5. doi: 10.1038/ng.411. Epub 2009 Jul 5.

8.

Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6.

Andersson LS, Juras R, Ramsey DT, Eason-Butler J, Ewart S, Cothran G, Lindgren G.

BMC Genet. 2008 Dec 19;9:88. doi: 10.1186/1471-2156-9-88.

9.

Electron tomography of early melanosomes: implications for melanogenesis and the generation of fibrillar amyloid sheets.

Hurbain I, Geerts WJ, Boudier T, Marco S, Verkleij AJ, Marks MS, Raposo G.

Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19726-31. doi: 10.1073/pnas.0803488105. Epub 2008 Nov 25.

10.

Chemistry of mixed melanogenesis--pivotal roles of dopaquinone.

Ito S, Wakamatsu K.

Photochem Photobiol. 2008 May-Jun;84(3):582-92. doi: 10.1111/j.1751-1097.2007.00238.x. Review.

PMID:
18435614
11.

The Mouse Genome Database (MGD): mouse biology and model systems.

Bult CJ, Eppig JT, Kadin JA, Richardson JE, Blake JA; Mouse Genome Database Group.

Nucleic Acids Res. 2008 Jan;36(Database issue):D724-8. Epub 2007 Dec 23.

12.

Premelanosome amyloid-like fibrils are composed of only golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes.

Harper DC, Theos AC, Herman KE, Tenza D, Raposo G, Marks MS.

J Biol Chem. 2008 Jan 25;283(4):2307-22. Epub 2007 Nov 8.

13.

Genetic determinants of hair, eye and skin pigmentation in Europeans.

Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, Pálsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2007 Dec;39(12):1443-52. Epub 2007 Oct 21.

PMID:
17952075
14.
15.

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, Lamoreux ML, Di Pietro SM, Starcevic M, Bennett DC, Dell'Angelica EC, Raposo G, Marks MS.

Mol Biol Cell. 2007 Mar;18(3):768-80. Epub 2006 Dec 20. Erratum in: Mol Biol Cell. 2017 Feb 1;28(3):500.

16.

A missense mutation in PMEL17 is associated with the Silver coat color in the horse.

Brunberg E, Andersson L, Cothran G, Sandberg K, Mikko S, Lindgren G.

BMC Genet. 2006 Oct 9;7:46.

17.

Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17.

Theos AC, Berson JF, Theos SC, Herman KE, Harper DC, Tenza D, Sviderskaya EV, Lamoreux ML, Bennett DC, Raposo G, Marks MS.

Mol Biol Cell. 2006 Aug;17(8):3598-612. Epub 2006 Jun 7.

18.

The molecular regulation of organelle transport in mammalian retinal pigment epithelial cells.

Futter CE.

Pigment Cell Res. 2006 Apr;19(2):104-11. Review.

PMID:
16524426
19.

A lumenal domain-dependent pathway for sorting to intralumenal vesicles of multivesicular endosomes involved in organelle morphogenesis.

Theos AC, Truschel ST, Tenza D, Hurbain I, Harper DC, Berson JF, Thomas PC, Raposo G, Marks MS.

Dev Cell. 2006 Mar;10(3):343-54.

20.

Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.

Clark LA, Wahl JM, Rees CA, Murphy KE.

Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1376-81. Epub 2006 Jan 9.

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