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Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

Wang XP, Liu YL, Mei LY, He CF, Niu ZJ, Sun J, Zhao YL, Feng Y, Zhang H.

J Hum Genet. 2018 May;63(5):639-646. doi: 10.1038/s10038-018-0425-z. Epub 2018 Mar 12.


A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report.

Zhang Z, Chen QD, Zhao LP, Ma J, Zhang TS, Pang JX, Li YF, Wang MF, Wang AP, Tang L, Li LJ, He WJ, Gu H.

Mol Med Rep. 2018 Apr;17(4):6054-6058. doi: 10.3892/mmr.2018.8627. Epub 2018 Feb 22.


Upregulation of Mitf by Phenolic Compounds-Rich Cymbopogon schoenanthus Treatment Promotes Melanogenesis in B16 Melanoma Cells and Human Epidermal Melanocytes.

Villareal MO, Kume S, Neffati M, Isoda H.

Biomed Res Int. 2017;2017:8303671. doi: 10.1155/2017/8303671. Epub 2017 Nov 21.


MITF-High and MITF-Low Cells and a Novel Subpopulation Expressing Genes of Both Cell States Contribute to Intra- and Intertumoral Heterogeneity of Primary Melanoma.

Ennen M, Keime C, Gambi G, Kieny A, Coassolo S, Thibault-Carpentier C, Margerin-Schaller F, Davidson G, Vagne C, Lipsker D, Davidson I.

Clin Cancer Res. 2017 Nov 15;23(22):7097-7107. doi: 10.1158/1078-0432.CCR-17-0010. Epub 2017 Aug 28.


Pathways from senescence to melanoma: focus on MITF sumoylation.

Leclerc J, Ballotti R, Bertolotto C.

Oncogene. 2017 Nov 30;36(48):6659-6667. doi: 10.1038/onc.2017.292. Epub 2017 Aug 21. Review.


Dysregulated Expression of MITF in Subsets of Hepatocellular Carcinoma and Cholangiocarcinoma.

Nooron N, Ohba K, Takeda K, Shibahara S, Chiabchalard A.

Tohoku J Exp Med. 2017 Aug;242(4):291-302. doi: 10.1620/tjem.242.291.


The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology.

Kawakami A, Fisher DE.

Lab Invest. 2017 Jun;97(6):649-656. doi: 10.1038/labinvest.2017.9. Epub 2017 Mar 6. Review.


Translation reprogramming is an evolutionarily conserved driver of phenotypic plasticity and therapeutic resistance in melanoma.

Falletta P, Sanchez-Del-Campo L, Chauhan J, Effern M, Kenyon A, Kershaw CJ, Siddaway R, Lisle R, Freter R, Daniels MJ, Lu X, Tüting T, Middleton M, Buffa FM, Willis AE, Pavitt G, Ronai ZA, Sauka-Spengler T, Hölzel M, Goding CR.

Genes Dev. 2017 Jan 1;31(1):18-33. doi: 10.1101/gad.290940.116. Epub 2017 Jan 17.


Validation and Enhancement of the Clinicopathological Melanoma Nomogram via Incorporation of a Molecular Marker in the Primary Tumor.

Naffouje SA, Naffouje R, Chen J, Salti GI.

Anticancer Res. 2016 Dec;36(12):6603-6610.


The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

Castro-Vega LJ, Kiando SR, Burnichon N, Buffet A, Amar L, Simian C, Berdelou A, Galan P, Schlumberger M, Bouatia-Naji N, Favier J, Bressac-de Paillerets B, Gimenez-Roqueplo AP.

J Clin Endocrinol Metab. 2016 Dec;101(12):4764-4768. Epub 2016 Sep 28.


Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Cortés-González V, Zenteno JC, Guzmán-Sánchez M, Giordano-Herrera V, Guadarrama-Vallejo D, Ruíz-Quintero N, Villanueva-Mendoza C.

Am J Med Genet A. 2016 Dec;170(12):3294-3297. doi: 10.1002/ajmg.a.37937. Epub 2016 Sep 8.


Heterogeneity of Metastatic Melanoma:  Correlation of MITF With Its Transcriptional Targets MLSN1, PEDF, HMB-45, and MART-1.

Zand S, Buzney E, Duncan LM, Dadras SS.

Am J Clin Pathol. 2016 Sep;146(3):353-60. doi: 10.1093/ajcp/aqw115. Epub 2016 Aug 11.


MITF depletion elevates expression levels of ERBB3 receptor and its cognate ligand NRG1-beta in melanoma.

Alver TN, Lavelle TJ, Longva AS, Øy GF, Hovig E, Bøe SL.

Oncotarget. 2016 Aug 23;7(34):55128-55140. doi: 10.18632/oncotarget.10422.


A genome-wide association study in Caucasian women suggests the involvement of HLA genes in the severity of facial solar lentigines.

Laville V, Clerc SL, Ezzedine K, Jdid R, Taing L, Labib T, Coulonges C, Ulveling D, Carpentier W, Galan P, Hercberg S, Morizot F, Latreille J, Malvy D, Tschachler E, Zagury JF.

Pigment Cell Melanoma Res. 2016 Sep;29(5):550-8. doi: 10.1111/pcmr.12502. Epub 2016 Aug 8.


Microphthalmia-associated transcription factor suppresses invasion by reducing intracellular GTP pools.

Bianchi-Smiraglia A, Bagati A, Fink EE, Moparthy S, Wawrzyniak JA, Marvin EK, Battaglia S, Jowdy P, Kolesnikova M, Foley CE, Berman AE, Kozlova NI, Lipchick BC, Paul-Rosner LM, Bshara W, Ackroyd JJ, Shewach DS, Nikiforov MA.

Oncogene. 2017 Jan 5;36(1):84-96. doi: 10.1038/onc.2016.178. Epub 2016 May 16.


The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients.

Stoehr CG, Walter B, Denzinger S, Ghiorzo P, Sturm RA, Hinze R, Moch H, Junker K, Hartmann A, Stoehr R.

Pathobiology. 2016;83(4):165-9. doi: 10.1159/000443311. Epub 2016 Mar 22.


[Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].

Chen Y, Yang F, Zheng H, Zhu G, Hu P, Wu W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):810-3. doi: 10.3760/cma.j.issn.1003-9406.2015.06.012. Chinese.


Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

Potrony M, Puig-Butille JA, Aguilera P, Badenas C, Tell-Marti G, Carrera C, Javier Del Pozo L, Conejo-Mir J, Malvehy J, Puig S.

JAMA Dermatol. 2016 Apr;152(4):405-12. doi: 10.1001/jamadermatol.2015.4356.


MiT Family Translocation-Associated Renal Cell Carcinoma: A Contemporary Update With Emphasis on Morphologic, Immunophenotypic, and Molecular Mimics.

Magers MJ, Udager AM, Mehra R.

Arch Pathol Lab Med. 2015 Oct;139(10):1224-33. doi: 10.5858/arpa.2015-0196-RA. Review.


Microphthalmia transcription factor in malignant melanoma predicts occult sentinel lymph node metastases and survival.

Naffouje S, Naffouje R, Bhagwandin S, Salti GI.

Melanoma Res. 2015 Dec;25(6):496-502. doi: 10.1097/CMR.0000000000000195.


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