PMC Articles for MedGen (Select 347513) - PMC

Select item 73938461.

Novel mutation identified in Leber congenital amaurosis - a case report

Shigeru Sato, Takeshi Morimoto, Sayaka Tanaka, Kikuko Hotta, Takashi Fujikado, Motokazu Tsujikawa, Kohji Nishida

BMC Ophthalmol. 2020; 20: 313. Published online 2020 Jul 31. doi: 10.1186/s12886-020-01577-9

PMCID:: PMC7393846

Article PDF–6.6M

Select item 69965192.

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65

Ruben Jauregui, Ahra Cho, Jin Kyun Oh, Akemi J. Tanaka, Janet R. Sparrow, Stephen H. Tsang

Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a004952. doi: 10.1101/mcs.a004952

PMCID:: PMC6996519

Article PDF–6.8M

Select item 65495563.

Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1

Chu Jian Ma, Winston Lee, Nicholas Stong, Jana Zernant, Stanley Chang, David Goldstein, Takayuki Nagasaki, Rando Allikmets

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003624. doi: 10.1101/mcs.a003624

PMCID:: PMC6549556

Article PDF–2.4M

Select item 43236894.

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene

Orsolya Orosz, Miklós Czeglédi, Irén Kántor, István Balogh, Attila Vajas, Lili Takács, András Berta, Gergely Losonczy

Mol Vis. 2015; 21: 124–130. Published online 2015 Feb 5.

PMCID:: PMC4323689

Article PDF–2.5M

Select item 41899055.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Yajing (Angela) Xie, Winston Lee, Carolyn Cai, Tomasz Gambin, Kalev Nõupuu, Tharikarn Sujirakul, Carmen Ayuso, Shalini Jhangiani, Donna Muzny, Eric Boerwinkle, Richard Gibbs, Vivienne C. Greenstein, James R. Lupski, Stephen H. Tsang, Rando Allikmets

Hum Mol Genet. 2014 Nov 1; 23(21): 5774–5780. Published online 2014 Jun 10. doi: 10.1093/hmg/ddu291

PMCID:: PMC4189905

Article PDF–9.4M

Select item 29411696.

The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

Michel Michaelides, Marie-Claire Gaillard, Pascal Escher, Leila Tiab, Matthew Bedell, François-Xavier Borruat, Daniel Barthelmes, Ruben Carmona, Kang Zhang, Edward White, Michelle McClements, Anthony G. Robson, Graham E. Holder, Keith Bradshaw, David M. Hunt, Andrew R. Webster, Anthony T. Moore, Daniel F. Schorderet, Francis L. Munier

Invest Ophthalmol Vis Sci. 2010 Sep; 51(9): 4771–4780. doi: 10.1167/iovs.09-4561

PMCID:: PMC2941169

Article PDF–2.3M

Select item 53130667.

Zika virus infects cells lining the blood-retinal barrier and causes chorioretinal atrophy in mouse eyes

Pawan Kumar Singh, John-Michael Guest, Mamta Kanwar, Joseph Boss, Nan Gao, Mark S. Juzych, Gary W. Abrams, Fu-Shin Yu, Ashok Kumar

JCI Insight. 2017 Feb 23; 2(4): e92340. Published online 2017 Feb 23. doi: 10.1172/jci.insight.92340

PMCID:: PMC5313066

Article PDF–1.7M

Select item 93244638.

The Dct^−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism

Angèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud, Benoît Pinson, Ivet Gazova, Etienne Gontier, Fanny Decoeur, Lisa McKie, Ian J. Jackson, Benoît Arveiler, Sophie Javerzat

Genes (Basel) 2022 Jul; 13(7): 1164. Published online 2022 Jun 27. doi: 10.3390/genes13071164

PMCID:: PMC9324463

Article PDF–1.8M

Select item 63302419.

Chorioretinal Changes in a Genetically Confirmed Case of Boucher-Neuhäuser Syndrome

Brittany B. DeNaro, Elona Dhrami-Gavazi, David M. Rubaltelli, K. Bailey Freund, Winston Lee, Lawrence A. Yannuzzi, Stephen H. Tsang, Joann J. Kang

Retin Cases Brief Rep. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Retin Cases Brief Rep. 2021 Mar 1; 15(2): 179–184. doi: 10.1097/ICB.0000000000000769

PMCID:: PMC6330241

Article PDF–1.4M

Select item 548224310.

Identification of Novel G Protein–Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism

Elisabetta De Filippo, Prashiela Manga, Anke C. Schiedel

Invest Ophthalmol Vis Sci. 2017 Jul; 58(7): 3118–3126. doi: 10.1167/iovs.16-21128

PMCID:: PMC5482243

Article PDF–1.0M

Select item 501589811.

GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

Alejandra Young, Uma Dandekar, Calvin Pan, Avery Sader, Jie J. Zheng, Richard A. Lewis, Debora B. Farber

PLoS One. 2016; 11(9): e0162273. Published online 2016 Sep 8. doi: 10.1371/journal.pone.0162273

PMCID:: PMC5015898

Article PDF–4.9M

Select item 359185312.

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

Karen Grønskov, Christopher M. Dooley, Elsebet Østergaard, Robert N. Kelsh, Lars Hansen, Mitchell P. Levesque, Kaj Vilhelmsen, Kjeld Møllgård, Derek L. Stemple, Thomas Rosenberg

Am J Hum Genet. 2013 Mar 7; 92(3): 415–421. doi: 10.1016/j.ajhg.2013.01.006

PMCID:: PMC3591853

Article PDF–1013K

Select item 343942713.

Melanoregulin, Product of the dsu Locus, Links the BLOC-Pathway and Oa1 in Organelle Biogenesis

Rivka A. Rachel, Kunio Nagashima, T. Norene O'Sullivan, Laura S. Frost, Frank P. Stefano, Valeria Marigo, Kathleen Boesze-Battaglia

PLoS One. 2012; 7(9): e42446. Published online 2012 Sep 11. doi: 10.1371/journal.pone.0042446

PMCID:: PMC3439427

Article PDF–916K

Select item 257269514.

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

Ilaria Palmisano, Paola Bagnato, Angela Palmigiano, Giulio Innamorati, Giuseppe Rotondo, Domenico Altimare, Consuelo Venturi, Elena V. Sviderskaya, Rosanna Piccirillo, Massimiliano Coppola, Valeria Marigo, Barbara Incerti, Andrea Ballabio, Enrico M. Surace, Carlo Tacchetti, Dorothy C. Bennett, Maria Vittoria Schiaffino

Hum Mol Genet. 2008 Nov 15; 17(22): 3487–3501. Published online 2008 Aug 12. doi: 10.1093/hmg/ddn241

Correction in:: Hum Mol Genet. 2017 Aug 1; 26(15): 3028–3029.

PMCID:: PMC2572695

Article PDF–1.5M

Select item 3859415.

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

M V Schiaffino, C Baschirotto, G Pellegrini, S Montalti, C Tacchetti, M De Luca, A Ballabio

Proc Natl Acad Sci U S A. 1996 Aug 20; 93(17): 9055–9060. doi: 10.1073/pnas.93.17.9055

PMCID:: PMC38594

Summary Page Browse PDF–1.7M

Select item 437972816.

Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL

Thomas Burgoyne, Marie N. O'Connor, Miguel C. Seabra, Daniel F. Cutler, Clare E. Futter

J Cell Sci. 2015 Apr 1; 128(7): 1400–1407. doi: 10.1242/jcs.164400

PMCID:: PMC4379728

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