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

Autor: Lahola-Chomiak AA; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Footz T; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Nguyen-Phuoc K; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Neil GJ; Department of Biological Sciences, University of Alberta, Edmonton AB, Canada., Fan B; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Allen KF; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Greenfield DS; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Palm Beach Gardens, FL, USA., Parrish RK; Anne Bates Leach Eye Hospital, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA., Linkroum K; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Pasquale LR; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Leonhardt RM; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Ritch R; Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USA., Javadiyan S; Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia., Craig JE; Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia., Allison WT; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada.; Department of Biological Sciences, University of Alberta, Edmonton AB, Canada., Lehmann OJ; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada.; Department of Ophthalmology, University of Alberta, Edmonton AB, Canada., Walter MA; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Wiggs JL; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2019 Apr 15; Vol. 28 (8), pp. 1298-1311.

Biogenesis of fibrils requires C‐mannosylation of PMEL.

Autor: Kawahara, Ryota¹ (AUTHOR), Usami, Tomoko¹ (AUTHOR), Arakawa, Satoko^2,3 (AUTHOR), Kamo, Hiroki¹ (AUTHOR), Suzuki, Takehiro⁴ (AUTHOR), Komatsu, Ryosuke¹ (AUTHOR), Hara, Hiroyuki⁵ (AUTHOR), Niwa, Yuki¹ (AUTHOR), Shimizu, Erina¹ (AUTHOR), Dohmae, Naoshi⁴ (AUTHOR), Shimizu, Shigeomi² (AUTHOR), Simizu, Siro¹ (AUTHOR) simizu@applc.keio.ac.jp

Publikováno v: FEBS Journal. Nov2023, Vol. 290 Issue 22, p5373-5394. 22p.

The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities‐A review.

Autor: Aboobakar, Inas F.¹ (AUTHOR), Wiggs, Janey L.¹ (AUTHOR) janey_wiggs@meei.harvard.edu

Publikováno v: Clinical & Experimental Ophthalmology. Mar2022, Vol. 50 Issue 2, p143-162. 20p.

A copy number variant is associated with a spectrum of pigmentation patterns in the rock pigeon (Columba livia).

Autor: Bruders, Rebecca¹ (AUTHOR), Van Hollebeke, Hannah¹ (AUTHOR), Osborne, Edward J.² (AUTHOR), Kronenberg, Zev² (AUTHOR), Maclary, Emily¹ (AUTHOR), Yandell, Mark² (AUTHOR), Shapiro, Michael D.¹ (AUTHOR) mike.shapiro@utah.edu

Publikováno v: PLoS Genetics. 5/20/2020, Vol. 16 Issue 5, p1-25. 25p.

Oküler ve Okülokutanöz Albinizm: Patogenez, Tanı ve Tedavi. (Turkish)

Autor: Yavuzer, Beyza, Yavuzer, Kamil

Publikováno v: Current Retina Journal / Güncel Retina Dergisi; Jul-Sep2023, Vol. 7 Issue 3, p160-163, 4p