PMC Links for OMIM (Select 155550) - PMC - NCBI

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Items: 9

Select item 82358051.

Exome-based investigation of the genetic basis of human pigmentary glaucoma

Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert

BMC Genomics. 2021; 22: 477. Published online 2021 Jun 26. doi: 10.1186/s12864-021-07782-0

PMCID:: PMC8235805

Abstract Article PDF–1.6M

Select item 72472972.

Modulating functional amyloid formation via alternative splicing of the premelanosomal protein PMEL17

Dexter N. Dean, Jennifer C. Lee

J Biol Chem. 2020 May 22; 295(21): 7544–7553. Published online 2020 Apr 10. doi: 10.1074/jbc.RA120.013012

PMCID:: PMC7247297

Abstract Article PDF–2.6M

Select item 64522063.

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma

Adrian A Lahola-Chomiak, Tim Footz, Kim Nguyen-Phuoc, Gavin J Neil, Baojian Fan, Keri F Allen, David S Greenfield, Richard K Parrish, Kevin Linkroum, Louis R Pasquale, Ralf M Leonhardt, Robert Ritch, Shari Javadiyan, Jamie E Craig, W T Allison, Ordan J Lehmann, Michael A Walter, Janey L Wiggs

Hum Mol Genet. 2019 Apr 15; 28(8): 1298–1311. Published online 2018 Dec 17. doi: 10.1093/hmg/ddy429

PMCID:: PMC6452206

Abstract Article PDF–49M

Select item 27886254.

The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function

Alexander C. Theos, Steven T. Truschel, Graça Raposo, Michael S. Marks

Pigment Cell Res. Author manuscript; available in PMC 2009 Dec 3.

Published in final edited form as: Pigment Cell Res. 2005 Oct; 18(5): 322–336. doi: 10.1111/j.1600-0749.2005.00269.x

PMCID:: PMC2788625

Abstract Article PDF–913K

Select item 13605275.

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

Leigh Anne Clark, Jacquelyn M. Wahl, Christine A. Rees, Keith E. Murphy

Proc Natl Acad Sci U S A. 2006 Jan 31; 103(5): 1376–1381. Published online 2006 Jan 9. doi: 10.1073/pnas.0506940103

PMCID:: PMC1360527

Abstract Article PDF–626K

Select item 12880396.

Functional Amyloid Formation within Mammalian Tissue

Douglas M Fowler, Atanas V Koulov, Christelle Alory-Jost, Michael S Marks, William E Balch, Jeffery W Kelly

PLoS Biol. 2006 Jan; 4(1): e6. Published online 2005 Nov 29. doi: 10.1371/journal.pbio.0040006

PMCID:: PMC1288039

Abstract Article PDF–501K

Select item 3066437.

Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17.

B S Kwon, R Halaban, S Ponnazhagan, K Kim, C Chintamaneni, D Bennett, R T Pickard

Nucleic Acids Res. 1995 Jan 11; 23(1): 154–158. doi: 10.1093/nar/23.1.154

PMCID:: PMC306643

Summary Page Browse PDF–988K

Select item 602678.

Pmel17 Initiates Premelanosome Morphogenesis within Multivesicular Bodies

Joanne F. Berson, Dawn C. Harper, Danielle Tenza, Graça Raposo, Michael S. Marks

Mol Biol Cell. 2001 Nov; 12(11): 3451–3464. doi: 10.1091/mbc.12.11.3451

PMCID:: PMC60267

Abstract Article PDF–2.1M

Select item 526879.

A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.

B S Kwon, C Chintamaneni, C A Kozak, N G Copeland, D J Gilbert, N Jenkins, D Barton, U Francke, Y Kobayashi, K K Kim

Proc Natl Acad Sci U S A. 1991 Oct 15; 88(20): 9228–9232. doi: 10.1073/pnas.88.20.9228

PMCID:: PMC52687

Summary Page Browse PDF–1.1M

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