PMC Links for Protein (Select 4557755) - PMC

Select item 69412911.

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim

BMC Med Genet. 2020; 21: 1. Published online 2020 Jan 2. doi: 10.1186/s12881-019-0942-4

PMCID:: PMC6941291

Select item 28399652.

Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanoma

Yixiang Wang, Soroosh Radfar, Suhu Liu, Adam I Riker, Hung T Khong

BMC Med. 2010; 8: 14. Published online 2010 Feb 17. doi: 10.1186/1741-7015-8-14

PMCID:: PMC2839965

Abstract Article PDF–1.7M

Select item 51421053.

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 38067534.

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, Xin Liu, Dongyang Kang, Xin Zhang, Weiyan Yang, Chengyong Zhou, Shiming Yang, Huijun Yuan

PLoS One. 2013; 8(10): e77149. Published online 2013 Oct 23. doi: 10.1371/journal.pone.0077149

PMCID:: PMC3806753

Abstract Article PDF–975K

Select item 32668555.

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 30914126.

Bioinformatic Prediction of Ultraviolet Light Mutagenesis Sensitivity of Human Genes and a Method for Genetically Engineering UVB Resistance

Kevin A. Lease, Chris Papageorgio

Cancer Inform. 2011; 10: 121–131. Published online 2011 Apr 18. doi: 10.4137/CIN.S6670

PMCID:: PMC3091412

Abstract Article PDF–558K

Select item 3833117.

Identification of Rat Genes by TWINSCAN Gene Prediction, RT–PCR, and Direct Sequencing

Jia Qian Wu, David Shteynberg, Manimozhiyan Arumugam, Richard A. Gibbs, Michael R. Brent

Genome Res. 2004 Apr; 14(4): 665–671. doi: 10.1101/gr.1959604

PMCID:: PMC383311

Abstract Article PDF–127K

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