PMC Articles for MedGen (Select 854645) - PMC

Jasmina Cehajic-Kapetanovic, Cristina Martinez-Fernandez de la Camara, Johannes Birtel, Salwah Rehman, Michelle E. McClements, Peter Charbel Issa, Andrew J Lotery, Robert E. MacLaren

Proc Natl Acad Sci U S A. 2022 Dec 6; 119(49): e2208707119. Published online 2022 Nov 29. doi: 10.1073/pnas.2208707119

PMCID:: PMC9897430

Abstract Article PDF–5.8M

Select item 92247396.

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger

Int J Mol Sci. 2022 Jun; 23(12): 6868. Published online 2022 Jun 20. doi: 10.3390/ijms23126868

PMCID:: PMC9224739

Abstract Article PDF–1.7M

Select item 92063937.

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Katie M. Williams, Michalis Georgiou, Angelos Kalitzeos, Isabelle Chow, Pirro G. Hysi, Anthony G. Robson, Gareth Lingham, Fred K. Chen, David A. Mackey, Andrew R. Webster, Christopher J. Hammond, Polina Prokhoda, Joseph Carroll, Michel Michaelides, Omar A. Mahroo

Invest Ophthalmol Vis Sci. 2022 Jun; 63(6): 15. Published online 2022 Jun 15. doi: 10.1167/iovs.63.6.15

PMCID:: PMC9206393

Abstract Article PDF–2.0M

Select item 91328658.

Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec

Krunoslav Stingl, Melanie Kempf, Karl U Bartz-Schmidt, Spyridon Dimopoulos, Felix Reichel, Ronja Jung, Carina Kelbsch, Susanne Kohl, Friederike Charlotte Kortüm, Fadi Nasser, Tobias Peters, Barbara Wilhelm, Bernd Wissinger, Fabian Wozar, Eberhart Zrenner, M Dominik Fischer, Katarina Stingl

Br J Ophthalmol. 2022 Jun; 106(6): 831–838. Published online 2021 Jan 20. doi: 10.1136/bjophthalmol-2020-318286

PMCID:: PMC9132865

Abstract Article PDF–6.4M

Select item 89424539.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

Samer Khateb, Aya Shemesh, Ashly Offenheim, Ruth Sheffer, Tamar Ben-Yosef, Itay Chowers, Rina Leibu, Britta Baumann, Bernd Wissinger, Susanne Kohl, Eyal Banin, Dror Sharon

Mol Vis. 2022; 28: 21–28. Published online 2022 Feb 22.

PMCID:: PMC8942453

Abstract Article PDF–1.8M

Select item 890450010.

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy

Benedetto Falsini, Giorgio Placidi, Elisa De Siena, Pietro Chiurazzi, Angelo Maria Minnella, Maria Cristina Savastano, Lucia Ziccardi, Vincenzo Parisi, Giancarlo Iarossi, Marcella Percio, Barbora Piteková, Giuseppe Marceddu, Paolo Enrico Maltese, Matteo Bertelli

Sci Rep. 2022; 12: 3774. Published online 2022 Mar 8. doi: 10.1038/s41598-022-07618-1

PMCID:: PMC8904500

Abstract Article PDF–1.8M

Select item 887215911.

Jonas Neubauer, Leo Hahn, Johannes Birtel, Camiel J. F. Boon, Peter Charbel Issa, M. Dominik Fischer

Genes (Basel) 2022 Feb; 13(2): 313. Published online 2022 Feb 8. doi: 10.3390/genes13020313

PMCID:: PMC8872159

Abstract Article PDF–2.0M

Select item 881927912.

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida, Fiona Blanco-Kelly, Saoud Swafiri, Isabel Lorda-Sanchez, Maria José Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Marta Corton, Almudena Avila-Fernandez, Carmen Ayuso

Invest Ophthalmol Vis Sci. 2022 Feb; 63(2): 11. Published online 2022 Feb 4. doi: 10.1167/iovs.63.2.11

PMCID:: PMC8819279

Abstract Article PDF–934K

Select item 679330013.

Red, Green, and Red-Green Hybrid Pigments in the Human Retina: Correlations between Deduced Protein Sequences and Psychophysically Measured Spectral Sensitivities

Lindsay T. Sharpe, Andrew Stockman, Herbert Jägle, Holger Knau, Gert Klausen, Andreas Reitner, Jeremy Nathans

J Neurosci. 1998 Dec 1; 18(23): 10053–10069. doi: 10.1523/JNEUROSCI.18-23-10053.1998

PMCID:: PMC6793300

Abstract Article PDF–291K

Select item 575785214.

Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy

Wen-Tao Deng, Jie Li, Ping Zhu, Vince A. Chiodo, W. Clay Smith, Beau Freedman, Wolfgang Baehr, Jijing Pang, William W. Hauswirth

Mol Vis. 2018; 24: 17–28. Published online 2018 Jan 8.

PMCID:: PMC5757852

Abstract Article PDF–2.7M

Select item 514792915.

Multimodal Imaging of Photoreceptor Structure in Choroideremia

Lynn W. Sun, Ryan D. Johnson, Vesper Williams, Phyllis Summerfelt, Alfredo Dubra, David V. Weinberg, Kimberly E. Stepien, Gerald A. Fishman, Joseph Carroll

PLoS One. 2016; 11(12): e0167526. Published online 2016 Dec 9. doi: 10.1371/journal.pone.0167526

PMCID:: PMC5147929

Abstract Article PDF–3.7M

Select item 488937116.

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations

Xun Sun, James H. Park, Jessica Gumerson, Zhijian Wu, Anand Swaroop, Haohua Qian, Antonina Roll-Mecak, Tiansen Li

Proc Natl Acad Sci U S A. 2016 May 24; 113(21): E2925–E2934. Published online 2016 May 9. doi: 10.1073/pnas.1523201113

PMCID:: PMC4889371

Abstract Article PDF–2.1M

Select item 395732317.

Contrasting calcium localization and speciation in leaves of Medicago truncatula mutant COD5 analyzed via synchrotron X-ray techniques

Tracy Punshon, Ryan Tappero, Felipe K. Ricachenevsky, Kendal Hirschi, Paul A. Nakata

Plant J. Author manuscript; available in PMC 2014 Mar 18.

Published in final edited form as: Plant J. 2013 Nov; 76(4): 627–633. Published online 2013 Oct 10. doi: 10.1111/tpj.12322

PMCID:: PMC3957323

Abstract Article PDF–897K

Select item 389327318.

Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation

Liping Yang, Xiaobei Yin, Lina Feng, Debo You, Lemeng Wu, Ningning Chen, Aijun Li, Genlin Li, Zhizhong Ma

PLoS One. 2014; 9(1): e85752. Published online 2014 Jan 15. doi: 10.1371/journal.pone.0085752

PMCID:: PMC3893273

Abstract Article PDF–1.3M

Select item 386840519.

Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy

Artur V. Cideciyan, Robert B. Hufnagel, Joseph Carroll, Alexander Sumaroka, Xunda Luo, Sharon B. Schwartz, Alfredo Dubra, Megan Land, Michel Michaelides, Jessica C. Gardner, Alison J. Hardcastle, Anthony T. Moore, Robert A. Sisk, Zubair M. Ahmed, Susanne Kohl, Bernd Wissinger, Samuel G. Jacobson

Hum Gene Ther. 2013 Dec 1; 24(12): 993–1006. Published online 2013 Sep 25. doi: 10.1089/hum.2013.153

PMCID:: PMC3868405

Abstract Article PDF–1.1M

Select item 359718620.

Variations in Opsin Coding Sequences Cause X-Linked Cone Dysfunction Syndrome with Myopia and Dichromacy

Michelle McClements, Wayne I. L. Davies, Michel Michaelides, Terri Young, Maureen Neitz, Robert E. MacLaren, Anthony T. Moore, David M. Hunt

Invest Ophthalmol Vis Sci. 2013 Feb; 54(2): 1361–1369. Published online 2013 Feb 15. doi: 10.1167/iovs.12-11156

PMCID:: PMC3597186

Abstract Article PDF–539K

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PMC Articles for MedGen (Select 854645) (28)
PMC
Opsaridium peringueyi isolate CTOL03496 cytochrome c oxidase subunit I (cox1) ge...
Opsaridium peringueyi isolate CTOL03496 cytochrome c oxidase subunit I (cox1) gene, partial cds; mitochondrial
gi|299832417|gb|HM224192.1|

Nucleotide
Mus musculus serum/glucocorticoid regulated kinase 3 (Sgk3), mRNA
Mus musculus serum/glucocorticoid regulated kinase 3 (Sgk3), mRNA
gi|29171295|ref|NM_177547.1|

Nucleotide
Rafar retinoic acid induced forelimb autopod reduction [Mus musculus]
Rafar retinoic acid induced forelimb autopod reduction [Mus musculus]
Gene ID:100036308

Gene

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