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Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.

Cao J, Tyburczy ME, Moss J, Darling TN, Widlund HR, Kwiatkowski DJ.

J Clin Invest. 2017 Jan 3;127(1):349-364. doi: 10.1172/JCI84262.


Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP.

Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004.


Application of Mouse Models to Research in Hearing and Balance.

Ohlemiller KK, Jones SM, Johnson KR.

J Assoc Res Otolaryngol. 2016 Dec;17(6):493-523. Review.


Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

Kim SY, Kim AR, Kim NK, Lee C, Kim MY, Jeon EH, Park WY, Choi BY.

Medicine (Baltimore). 2016 Apr;95(14):e3029. doi: 10.1097/MD.0000000000003029.


Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway.

Bouché V, Espinosa AP, Leone L, Sardiello M, Ballabio A, Botas J.

Autophagy. 2016;12(3):484-98. doi: 10.1080/15548627.2015.1134081.


Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo.

Yusnizar Y, Wilbe M, Herlino AO, Sumantri C, Noor RR, Boediono A, Andersson L, Andersson G.

Anim Genet. 2015 Dec;46(6):676-82. doi: 10.1111/age.12334.


Mutations of TYR and MITF Genes are Associated with Plumage Colour Phenotypes in Geese.

Wang Y, Li SM, Huang J, Chen SY, Liu YP.

Asian-Australas J Anim Sci. 2014 Jun;27(6):778-83. doi: 10.5713/ajas.2013.13350.


Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers.

Kauffman EC, Ricketts CJ, Rais-Bahrami S, Yang Y, Merino MJ, Bottaro DP, Srinivasan R, Linehan WM.

Nat Rev Urol. 2014 Aug;11(8):465-75. doi: 10.1038/nrurol.2014.162. Review.


MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill C, Bergsteinsdóttir K, Ogmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrímsson E.

Hum Mol Genet. 2013 Nov 1;22(21):4357-67. doi: 10.1093/hmg/ddt285.


Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

Ni C, Zhang D, Beyer LA, Halsey KE, Fukui H, Raphael Y, Dolan DF, Hornyak TJ.

Pigment Cell Melanoma Res. 2013 Jan;26(1):78-87. doi: 10.1111/pcmr.12030.


YY1 regulates melanocyte development and function by cooperating with MITF.

Li J, Song JS, Bell RJ, Tran TN, Haq R, Liu H, Love KT, Langer R, Anderson DG, Larue L, Fisher DE.

PLoS Genet. 2012;8(5):e1002688. doi: 10.1371/journal.pgen.1002688.


Hypoxia-induced transcriptional repression of the melanoma-associated oncogene MITF.

Feige E, Yokoyama S, Levy C, Khaled M, Igras V, Lin RJ, Lee S, Widlund HR, Granter SR, Kung AL, Fisher DE.

Proc Natl Acad Sci U S A. 2011 Oct 25;108(43):E924-33. doi: 10.1073/pnas.1106351108.


Ciglitazone negatively regulates CXCL1 signaling through MITF to suppress melanoma growth.

Botton T, Puissant A, Cheli Y, Tomic T, Giuliano S, Fajas L, Deckert M, Ortonne JP, Bertolotto C, Tartare-Deckert S, Ballotti R, Rocchi S.

Cell Death Differ. 2011 Jan;18(1):109-21. doi: 10.1038/cdd.2010.75.


Main roads to melanoma.

Palmieri G, Capone M, Ascierto ML, Gentilcore G, Stroncek DF, Casula M, Sini MC, Palla M, Mozzillo N, Ascierto PA.

J Transl Med. 2009 Oct 14;7:86. doi: 10.1186/1479-5876-7-86. Review.


Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Gad A, Laurino M, Maravilla KR, Matsushita M, Raskind WH.

Am J Med Genet A. 2008 Jul 15;146A(14):1880-5. doi: 10.1002/ajmg.a.32402.


Microphthalmia transcription factor as a molecular marker for circulating tumor cell detection in blood of melanoma patients.

Koyanagi K, O'Day SJ, Gonzalez R, Lewis K, Robinson WA, Amatruda TT, Kuo C, Wang HJ, Milford R, Morton DL, Hoon DS.

Clin Cancer Res. 2006 Feb 15;12(4):1137-43.


Beta-catenin-induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor.

Widlund HR, Horstmann MA, Price ER, Cui J, Lessnick SL, Wu M, He X, Fisher DE.

J Cell Biol. 2002 Sep 16;158(6):1079-87.


c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi.

Wu M, Hemesath TJ, Takemoto CM, Horstmann MA, Wells AG, Price ER, Fisher DZ, Fisher DE.

Genes Dev. 2000 Feb 1;14(3):301-12.

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