U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 109

1.
In Vivo Potency Testing of Subretinal rAAV5.hCNGB1 Gene Therapy in the Cngb1 Knockout Mouse Model of Retinitis Pigmentosa
Johanna E. Wagner, Lena Zobel, Maximilian J. Gerhardt, Catherine R. O'Riordan, Amy Frederick, Simon M. Petersen-Jones, Martin Biel, Stylianos Michalakis
Hum Gene Ther. October 2021; 32(19-20): 1158–1170. Published online 2021 Oct 18. doi: 10.1089/hum.2021.121
PMCID:
PMC8819509
AbstractArticlePDF–1.9M
2.
Comparative genomics and biological characterization of sequential Pseudomonas aeruginosa isolates from persistent airways infection
Irene Bianconi, Julie Jeukens, Luca Freschi, Beatriz Alcalá-Franco, Marcella Facchini, Brian Boyle, Antonio Molinaro, Irena Kukavica-Ibrulj, Burkhard Tümmler, Roger C. Levesque, Alessandra Bragonzi
BMC Genomics. 2015; 16: 1105. Published online 2015 Dec 29. doi: 10.1186/s12864-015-2276-8
PMCID:
PMC4696338
AbstractArticlePDF–2.0M
3.
ATG3 Is Important for the Chorion Ultrastructure During Oogenesis in the Insect Vector Rhodnius prolixus
Anna Santos, Isabela Ramos
Front Physiol. 2021; 12: 638026. Published online 2021 Feb 3. doi: 10.3389/fphys.2021.638026
PMCID:
PMC7888535
AbstractArticlePDF–6.8M
4.
Pseudomonas aeruginosa Elastase Contributes to the Establishment of Chronic Lung Colonization and Modulates the Immune Response in a Murine Model
Cristina Cigana, Jérôme Castandet, Nicolas Sprynski, Medede Melessike, Lilha Beyria, Serena Ranucci, Beatriz Alcalá-Franco, Alice Rossi, Alessandra Bragonzi, Magdalena Zalacain, Martin Everett
Front Microbiol. 2020; 11: 620819. Published online 2021 Jan 12. doi: 10.3389/fmicb.2020.620819
PMCID:
PMC7836092
AbstractArticlePDF–1.4M
5.
Transcriptome and gene expression profile of ovarian follicle tissue of the triatomine bug Rhodnius prolixus
Marcelo N. Medeiros, Raquel Logullo, Isabela B. Ramos, Marcos H. F. Sorgine, Gabriela O. Paiva-Silva, Rafael D. Mesquita, Ednildo Alcantara Machado, Maria Alice Coutinho, Hatisaburo Masuda, Margareth L. Capurro, José M.C. Ribeiro, Glória Regina Cardoso Braz, Pedro L Oliveira
Insect Biochem Mol Biol. Author manuscript; available in PMC 2013 Aug 12.
Published in final edited form as: Insect Biochem Mol Biol. 2011 Oct; 41(10): 823–831. Published online 2011 Jun 28. doi: 10.1016/j.ibmb.2011.06.004
PMCID:
PMC3740404
AbstractArticlePDF–1.3M
6.
A critical role for ecdysone response genes in regulating egg production in adult female Rhodnius prolixus
Samiha Benrabaa, Ian Orchard, Angela B. Lange
PLoS One. 2023; 18(3): e0283286. Published online 2023 Mar 20. doi: 10.1371/journal.pone.0283286
PMCID:
PMC10027210
AbstractArticlePDF–3.8M
7.
Inhibition of Dopamine Signaling Suppresses cGMP Accumulation in rd1 Retinal Organ Cultures
Ju Zhang, Angela M. Richmond, Judith Mosinger Ogilvie
Neuroreport. Author manuscript; available in PMC 2015 May 28.
Published in final edited form as: Neuroreport. 2014 May 28; 25(8): 601–606. doi: 10.1097/WNR.0000000000000145
PMCID:
PMC4275426
AbstractArticlePDF–1.1M
8.
Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa
Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, Alexey Obolensky, Itay Chowers, Jacob Pe'er, Saul Merin, Tamar Ben-Yosef, Ruth Ashery-Padan, Eyal Banin, Dror Sharon
Am J Hum Genet. 2010 Sep 10; 87(3): 382–391. doi: 10.1016/j.ajhg.2010.07.022
PMCID:
PMC2933343
AbstractArticlePDF–1.3M
9.
Rod Photoreceptor Temporal Properties in Retinitis Pigmentosa
Yuquan Wen, Kirsten G. Locke, Donald C. Hood, David G. Birch
Exp Eye Res. Author manuscript; available in PMC 2012 Mar 1.
Published in final edited form as: Exp Eye Res. 2011 Mar; 92(3): 202–208. Published online 2011 Jan 8. doi: 10.1016/j.exer.2010.12.014
PMCID:
PMC3057282
AbstractArticlePDF–579K
10.
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen
Orphanet J Rare Dis. 2024; 19: 350. Published online 2024 Sep 23. doi: 10.1186/s13023-024-03358-9
PMCID:
PMC11421175
AbstractArticlePDF–1.4M
11.
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I. den Hollander, Lonneke Haer-Wigman, Rob W. J. Collin, Muhammad Imran Khan, Raheel Qamar, Frans P. M. Cremers
PLoS One. 2015; 10(3): e0119806. Published online 2015 Mar 16. doi: 10.1371/journal.pone.0119806
PMCID:
PMC4361598
AbstractArticlePDF–876K
12.
Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations
Samuel G. Jacobson, Artur V. Cideciyan, Dan Gibbs, Alexander Sumaroka, Alejandro J. Roman, Tomas S. Aleman, Sharon B. Schwartz, Melani B. Olivares, Robert C. Russell, Janet D. Steinberg, Margaret A. Kenna, William J. Kimberling, Heidi L. Rehm, David S. Williams
Invest Ophthalmol Vis Sci. 2011 Oct; 52(11): 7924–7936. Published online 2011 Oct 7. doi: 10.1167/iovs.11-8313
PMCID:
PMC3263772
AbstractArticlePDF–3.1M
13.
Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome
Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield
J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487
PMCID:
PMC3370246
AbstractArticlePDF–2.3M
14.
Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
Koji M. Nishiguchi, Carlo Rivolta
PLoS One. 2012; 7(7): e41902. Published online 2012 Jul 27. doi: 10.1371/journal.pone.0041902
PMCID:
PMC3407128
AbstractArticlePDF–65K
15.
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies
Daniel F. Schorderet, Alexandra Iouranova, Tatiana Favez, Leila Tiab, Pascal Escher
Biomed Res Int. 2013; 2013: 198089. Published online 2012 Dec 26. doi: 10.1155/2013/198089
PMCID:
PMC3591198
AbstractArticlePDF–1.5M
16.
Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa
Qing Fu, Feng Wang, Hui Wang, Fei Xu, Jacques E. Zaneveld, Huanan Ren, Vafa Keser, Irma Lopez, Han-Fang Tuan, Jason S. Salvo, Xia Wang, Li Zhao, Keqing Wang, Yumei Li, Robert K. Koenekoop, Rui Chen, Ruifang Sui
Invest Ophthalmol Vis Sci. 2013 Jun; 54(6): 4158–4166. Published online 2013 Jun 14. doi: 10.1167/iovs.13-11672
PMCID:
PMC3684217
AbstractArticlePDF–760K
17.
The many different cellular functions of MYO7A in the retina
David S. Williams, Vanda Lopes
Biochem Soc Trans. Author manuscript; available in PMC 2013 Jul 8.
Published in final edited form as: Biochem Soc Trans. 2011 Oct; 39(5): 1207–1210. doi: 10.1042/BST0391207
PMCID:
PMC3703834
AbstractArticlePDF–653K
18.
The use of induced pluripotent stem cells to reveal pathogenic gene mutations and explore treatments for retinitis pigmentosa
Tetsu Yoshida, Yoko Ozawa, Keiichiro Suzuki, Kenya Yuki, Manabu Ohyama, Wado Akamatsu, Yumi Matsuzaki, Shigeto Shimmura, Kohnosuke Mitani, Kazuo Tsubota, Hideyuki Okano
Mol Brain. 2014; 7: 45. Published online 2014 Jun 16. doi: 10.1186/1756-6606-7-45
PMCID:
PMC4058693
AbstractArticlePDF–2.1M
19.
A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy
Saija J. Ahonen, Meharji Arumilli, Hannes Lohi
PLoS One. 2013; 8(8): e72122. Published online 2013 Aug 28. doi: 10.1371/journal.pone.0072122
PMCID:
PMC3756049
AbstractArticlePDF–2.6M
20.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Koji M. Nishiguchi, Richard G. Tearle, Yangfan P. Liu, Edwin C. Oh, Noriko Miyake, Paola Benaglio, Shyana Harper, Hanna Koskiniemi-Kuendig, Giulia Venturini, Dror Sharon, Robert K. Koenekoop, Makoto Nakamura, Mineo Kondo, Shinji Ueno, Tetsuhiro R. Yasuma, Jacques S. Beckmann, Shiro Ikegawa, Naomichi Matsumoto, Hiroko Terasaki, Eliot L. Berson, Nicholas Katsanis, Carlo Rivolta
Proc Natl Acad Sci U S A. 2013 Oct 1; 110(40): 16139–16144. Published online 2013 Sep 16. doi: 10.1073/pnas.1308243110
PMCID:
PMC3791719
AbstractArticlePDF–1.0M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center