PMC Links for OMIM (Select 156845) - PMC

Select item 51421051.

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

Aman George, Dina J. Zand, Robert B. Hufnagel, Ruchi Sharma, Yuri V. Sergeev, Janet M. Legare, Gregory M. Rice, Jessica A. Scott Schwoerer, Mariana Rius, Laura Tetri, David M. Gamm, Kapil Bharti, Brian P. Brooks

Am J Hum Genet. 2016 Dec 1; 99(6): 1388–1394. Published online 2016 Nov 23. doi: 10.1016/j.ajhg.2016.11.004

PMCID:: PMC5142105

Abstract Article PDF–889K

Select item 50865852.

Transcriptional control of the autophagy-lysosome system in pancreatic cancer

Rushika M. Perera, Svetlana Stoykova, Brandon N. Nicolay, Kenneth N. Ross, Julien Fitamant, Myriam Boukhali, Justine Lengrand, Vikram Deshpande, Martin K. Selig, Cristina R. Ferrone, Jeff Settleman, Gregory Stephanopoulos, Nicholas J. Dyson, Roberto Zoncu, Sridhar Ramaswamy, Wilhelm Haas, Nabeel Bardeesy

Nature. Author manuscript; available in PMC 2016 Oct 31.

Published in final edited form as: Nature. 2015 Aug 20; 524(7565): 361–365. Published online 2015 Jul 13. doi: 10.1038/nature14587

PMCID:: PMC5086585

Abstract Article PDF–4.7M

Select item 32668553.

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Satoru Yokoyama, Susan L. Woods, Glen M. Boyle, Lauren G. Aoude, Stuart MacGregor, Victoria Zismann, Michael Gartside, Anne E. Cust, Rizwan Haq, Mark Harland, John C. Taylor, David L. Duffy, Kelly Holohan, Ken Dutton-Regester, Jane M. Palmer, Vanessa Bonazzi, Mitchell S. Stark, Judith Symmons, Matthew H. Law, Christopher Schmidt, Cathy Lanagan, Linda O’Connor, Elizabeth A. Holland, Helen Schmid, Judith A. Maskiell, Jodie Jetann, Megan Ferguson, Mark A. Jenkins, Richard F. Kefford, Graham G. Giles, Bruce K. Armstrong, Joanne F. Aitken, John L. Hopper, David C. Whiteman, Paul D. Pharoah, Douglas F. Easton, Alison M. Dunning, Julia A. Newton-Bishop, Grant W. Montgomery, Nicholas G. Martin, Graham J. Mann, D. Timothy Bishop, Hensin Tsao, Jeffrey M. Trent, David E. Fisher, Nicholas K. Hayward, Kevin M. Brown

Nature. 2011; 480(7375): 99–103. Published online 2011 Nov 13. doi: 10.1038/nature10630

PMCID:: PMC3266855

Abstract Article PDF–291K

Select item 26347984.

Aberrant miR-182 expression promotes melanoma metastasis by repressing FOXO3 and microphthalmia-associated transcription factor

Miguel F. Segura, Douglas Hanniford, Silvia Menendez, Linsey Reavie, Xuanyi Zou, Silvia Alvarez-Diaz, Jan Zakrzewski, Elen Blochin, Amy Rose, Dusan Bogunovic, David Polsky, Jianjun Wei, Peng Lee, Ilana Belitskaya-Levy, Nina Bhardwaj, Iman Osman, Eva Hernando

Proc Natl Acad Sci U S A. 2009 Feb 10; 106(6): 1814–1819. Published online 2009 Feb 2. doi: 10.1073/pnas.0808263106

PMCID:: PMC2634798

Abstract Article PDF–856K

Select item 21732245.

β-Catenin–induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor

Hans R. Widlund, Martin A. Horstmann, E. Roydon Price, Junqing Cui, Stephen L. Lessnick, Min Wu, Xi He, David E. Fisher

J Cell Biol. 2002 Sep 16; 158(6): 1079–1087. doi: 10.1083/jcb.200202049

PMCID:: PMC2173224

Abstract Article PDF–356K

Select item 21716666.

MITF links differentiation with cell cycle arrest in melanocytes by transcriptional activation of INK4A

Amy E. Loercher, Elizabeth M.H. Tank, Rachel B. Delston, J. William Harbour

J Cell Biol. 2005 Jan 3; 168(1): 35–40. doi: 10.1083/jcb.200410115

PMCID:: PMC2171666

Abstract Article PDF–1.7M

Select item 19323847.

A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance

Walter Tietz

Am J Hum Genet. 1963 Sep; 15(3): 259–264.

PMCID:: PMC1932384

Summary Page Browse PDF–851K

Select item 19151028.

Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.

Y. Nobukuni, A. Watanabe, K. Takeda, H. Skarka, M. Tachibana

Am J Hum Genet. 1996 Jul; 59(1): 76–83.

PMCID:: PMC1915102

Summary Page Browse PDF–1.7M

Select item 17346059.

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

S. Smith, P. Kelley, J. Kenyon, D. Hoover

J Med Genet. 2000 Jun; 37(6): 446–448. doi: 10.1136/jmg.37.6.446

PMCID:: PMC1734605

Summary PDF–93K

Select item 169844910.

Mitf regulation of Dia1 controls melanoma proliferation and invasiveness

Suzanne Carreira, Jane Goodall, Laurence Denat, Mercedes Rodriguez, Paolo Nuciforo, Keith S. Hoek, Alessandro Testori, Lionel Larue, Colin R. Goding

Genes Dev. 2006 Dec 15; 20(24): 3426–3439. doi: 10.1101/gad.406406

PMCID:: PMC1698449

Abstract Article PDF–917K

Select item 157037511.

Transcription factor MITF regulates cardiac growth and hypertrophy

Sagi Tshori, Dan Gilon, Ronen Beeri, Hovav Nechushtan, Dmitry Kaluzhny, Eli Pikarsky, Ehud Razin

J Clin Invest. 2006 Oct 2; 116(10): 2673–2681. Published online 2006 Sep 21. doi: 10.1172/JCI27643

PMCID:: PMC1570375

Abstract Article PDF–843K

Select item 119956912.

The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis

Lionel Larribere, Caroline Hilmi, Mehdi Khaled, Cédric Gaggioli, Karine Bille, Patrick Auberger, Jean Paul Ortonne, Robert Ballotti, Corine Bertolotto

Genes Dev. 2005 Sep 1; 19(17): 1980–1985. doi: 10.1101/gad.335905