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Items: 1 to 20 of 74

1.
Effect of RP51 gene dosage alterations on ribosome synthesis in Saccharomyces cerevisiae.
N Abovich, L Gritz, L Tung, M Rosbash
Mol Cell Biol. 1985 Dec; 5(12): 3429–3435. doi: 10.1128/mcb.5.12.3429
PMCID:
PMC369172
SummaryPage BrowsePDF–1.4M
2.
Expression of a beta-galactosidase gene containing the ribosomal protein 51 intron is sensitive to the rna2 mutation of yeast.
J L Teem, M Rosbash
Proc Natl Acad Sci U S A. 1983 Jul; 80(14): 4403–4407. doi: 10.1073/pnas.80.14.4403
PMCID:
PMC384046
SummaryPage BrowsePDF–1.2M
3.
Further evidence that the rna2 mutation of Saccharomyces cerevisiae affects mRNA processing.
S Bromley, L Hereford, M Rosbash
Mol Cell Biol. 1982 Oct; 2(10): 1205–1211. doi: 10.1128/mcb.2.10.1205
PMCID:
PMC369919
SummaryPage BrowsePDF–1.0M
4.
Posttranscriptional regulation and assembly into ribosomes of a Saccharomyces cerevisiae ribosomal protein-beta-galactosidase fusion.
L Gritz, N Abovich, J L Teem, M Rosbash
Mol Cell Biol. 1985 Dec; 5(12): 3436–3442. doi: 10.1128/mcb.5.12.3436
PMCID:
PMC369173
SummaryPage BrowsePDF–1.4M
5.
Two genes for ribosomal protein 51 of Saccharomyces cerevisiae complement and contribute to the ribosomes.
N Abovich, M Rosbash
Mol Cell Biol. 1984 Sep; 4(9): 1871–1879. doi: 10.1128/mcb.4.9.1871
PMCID:
PMC368997
SummaryPage BrowsePDF–1.7M
6.
Coordinate expression of ribosomal protein genes in Neurospora crassa and identification of conserved upstream sequences.
Y G Shi, B M Tyler
Nucleic Acids Res. 1991 Dec 11; 19(23): 6511–6517. doi: 10.1093/nar/19.23.6511
PMCID:
PMC329209
SummaryPage BrowsePDF–1.6M
7.
Recombinant p51 as Antigen in an Immune Complex Transfer Enzyme Immunoassay of Immunoglobulin G Antibody to Human Immunodeficiency Virus Type 1
Kazuya Hashinaka, Seiichi Hashida, Ichiro Nishikata, Akio Adachi, Shinichi Oka, Eiji Ishikawa
Clin Diagn Lab Immunol. 2000 Nov; 7(6): 967–976. doi: 10.1128/cdli.7.6.967-976.2000
PMCID:
PMC95995
ArticlePDF–198K
8.
Combination of blockade of endothelin signalling and compensation of IGF1 expression protects the retina from degeneration
Naoya Shigesada, Naoya Shikada, Manabu Shirai, Michinori Toriyama, Fumiaki Higashijima, Kazuhiro Kimura, Toru Kondo, Yasumasa Bessho, Takuma Shinozuka, Noriaki Sasai
Cell Mol Life Sci. 2024; 81(1): 51. Published online 2024 Jan 22. doi: 10.1007/s00018-023-05087-x
PMCID:
PMC10803390
ArticlePDF–3.2M
9.
Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report
Ya’nan Zhang, Xinyi Guo, Ling Hao, Meihui Tian, Yuan Ma, Yong Tang
J Int Med Res. 2023 Dec; 51(12): 03000605231218924. Published online 2023 Dec 23. doi: 10.1177/03000605231218924
PMCID:
PMC10748951
ArticlePDF–1.1M
10.
Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report
Yang-Fan Qi, Xiaoping Ma, Shuang-Zhu Lin, Wan-Qi Wang, Jia-Yi Li, Qian-Dui Chen, Li Liu
Medicine (Baltimore) 2023 Dec 22; 102(51): e36357. Published online 2023 Dec 22. doi: 10.1097/MD.0000000000036357
PMCID:
PMC10735150
ArticlePDF–1.4M
11.
Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis
Mohamad Sobh, Pamela S. Lagali, Maryam Ghiasi, Joshua Montroy, Michael Dollin, Bernard Hurley, Brian C. Leonard, Ioannis Dimopoulos, Mackenzie Lafreniere, Dean A. Fergusson, Manoj M. Lalu, Catherine Tsilfidis
Transl Vis Sci Technol. 2023 Nov; 12(11): 24. Published online 2023 Nov 20. doi: 10.1167/tvst.12.11.24
PMCID:
PMC10668613
ArticlePDF–2.4M
12.
Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India
Parveen Sen, Natarajan Srikrupa, Puja Maitra, Sundaramurthy Srilekha, Periyasamy Porkodi, Harshavardhini Gnanasekaran, Muna Bhende, Vikas Khetan, Sinnakaruppan Mathavan, Pramod Bhende, Dhanashree Ratra, Rajiv Raman, Chetan Rao, Sarangapani Sripriya
Indian J Ophthalmol. 2023 Jun; 71(6): 2512–2520. Published online 2023 Jun 14. doi: 10.4103/IJO.IJO_2579_22
PMCID:
PMC10417947
ArticlePDF–4.2M
13.
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity
Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu, Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Am J Ophthalmol. 2022 Dec; 244: 98–116. Published online 2022 Aug 22. doi: 10.1016/j.ajo.2022.08.013
PMCID:
PMC9712171
ArticlePDF–1.1M
14.
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B. Haack, Nicole Weisschuh, Katarina Stingl, Eberhart Zrenner
Genes (Basel) 2022 Jul; 13(7): 1218. Published online 2022 Jul 8. doi: 10.3390/genes13071218
PMCID:
PMC9322102
ArticlePDF–6.2M
15.
Hearing loss in Africa: current genetic profile
Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Osbourne Quaye, Gordon A. Awandare, Ambroise Wonkam
Hum Genet. 2022; 141(3-4): 505–517. Published online 2021 Oct 5. doi: 10.1007/s00439-021-02376-y
PMCID:
PMC9034983
ArticlePDF–1008K
16.
Ocular biometry with swept-source optical coherence tomography-based optical biometer in Japanese patients with EYS-related retinitis pigmentosa: a retrospective study
Daiki Sakai, Satoshi Yokota, Akiko Maeda, Yasuhiko Hirami, Makoto Nakamura, Yasuo Kurimoto
BMC Ophthalmol. 2022; 22: 51. Published online 2022 Feb 2. doi: 10.1186/s12886-022-02284-3
PMCID:
PMC8811986
ArticlePDF–686K
17.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo
Int J Mol Sci. 2021 Aug; 22(15): 7875. Published online 2021 Jul 23. doi: 10.3390/ijms22157875
PMCID:
PMC8346125
ArticlePDF–3.2M
18.
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel
Genes (Basel) 2021 Jul; 12(7): 1078. Published online 2021 Jul 16. doi: 10.3390/genes12071078
PMCID:
PMC8304314
ArticlePDF–606K
19.
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort
Yoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, Eul-Ju Seo, Go-Hun Seo, Changwon Keum, Beom-Hee Lee, Joo-Yong Lee
Genes (Basel) 2021 May; 12(5): 675. Published online 2021 Apr 30. doi: 10.3390/genes12050675
PMCID:
PMC8146864
ArticlePDF–1.6M
20.
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
Shogo Numa, Akio Oishi, Koichiro Higasa, Maho Oishi, Manabu Miyata, Tomoko Hasegawa, Hanako Ohashi Ikeda, Yuki Otsuka, Fumihiko Matsuda, Akitaka Tsujikawa
Sci Rep. 2020; 10: 20770. Published online 2020 Nov 27. doi: 10.1038/s41598-020-77558-1
PMCID:
PMC7695703
ArticlePDF–2.0M

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