PMC Articles for MedGen (Select 322781) - PMC

Masahiro Nishide, Kathleen Le Marquand, Mark R. Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Peter K. Panegyres, Kishore R. Kumar

Cerebellum. 2024; 23(1): 268–277. Published online 2023 Jan 25. doi: 10.1007/s12311-023-01522-8

PMCID:: PMC10864522

Abstract Article PDF–1.2M

Select item 108402564.

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023

Asad Munir, Salma Afsar, Atta Ur Rehman

BMC Ophthalmol. 2024; 24: 55. Published online 2024 Feb 5. doi: 10.1186/s12886-024-03319-7

PMCID:: PMC10840256

Abstract Article PDF–1.6M

Select item 106686215.

Deep Learning–Facilitated Study of the Rate of Change in Photoreceptor Outer Segment Metrics in RPGR-Related X-Linked Retinitis Pigmentosa

Yi-Zhong Wang, Katherine Juroch, Yineng Chen, Gui-Shuang Ying, David G. Birch

Invest Ophthalmol Vis Sci. 2023 Nov; 64(14): 31. Published online 2023 Nov 21. doi: 10.1167/iovs.64.14.31

PMCID:: PMC10668621

Abstract Article PDF–746K

Select item 103629256.

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

Kirk A. J. Stephenson, Laura Whelan, Julia Zhu, Adrian Dockery, Niamh C. Wynne, Rebecca M. Cairns, Claire Kirk, Jacqueline Turner, Emma S. Duignan, James J. O'Byrne, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan

Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 23. Published online 2023 Jul 19. doi: 10.1167/iovs.64.10.23

PMCID:: PMC10362925

Abstract Article PDF–794K

Select item 101527677.

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Jun Sone, Shinji Ueno, Akio Akagi, Hiroaki Miyahara, Chisato Tamai, Yuichi Riku, Hiroyuki Yabata, Ryuichi Koizumi, Tomohiro Hattori, Hiroshi Hirose, Yoshito Koyanagi, Rei Kobayashi, Hisashi Okada, Yoshiyuki Kishimoto, Yoshio Hashizume, Gen Sobue, Mari Yoshida, Yasushi Iwasaki

Acta Neuropathol Commun. 2023; 11: 71. Published online 2023 May 2. doi: 10.1186/s40478-023-01564-3

PMCID:: PMC10152767

Abstract Article PDF–2.3M

Select item 100775038.

Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C

Emilia Baranowska, Katarzyna Niedzwiecka, Chiranjit Panja, Camille Charles, Alain Dautant, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Roza Kucharczyk

Hum Mol Genet. 2023 Apr 15; 32(8): 1313–1323. Published online 2022 Nov 26. doi: 10.1093/hmg/ddac292

PMCID:: PMC10077503

Abstract Article PDF–1.3M

Select item 100351489.

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

Nobia Aziz, Mukhtar Ullah, Abdur Rashid, Zubair Hussain, Khadim Shah, Azeem Awan, Muhammad Khan, Inam Ullah, Atta Ur Rehman

BMC Ophthalmol. 2023; 23: 116. Published online 2023 Mar 23. doi: 10.1186/s12886-023-02845-0

PMCID:: PMC10035148

Abstract Article PDF–1.4M

Select item 995864910.

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

Vlasta Hadalin, Maša Buscarino, Jana Sajovic, Andrej Meglič, Martina Jarc-Vidmar, Marko Hawlina, Marija Volk, Ana Fakin

Int J Mol Sci. 2023 Feb; 24(4): 3840. Published online 2023 Feb 14. doi: 10.3390/ijms24043840

PMCID:: PMC9958649

Abstract Article PDF–8.7M

Select item 985174411.

Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

Kerstin Nagel-Wolfrum, Benjamin R Fadl, Mirjana M Becker, Kirsten A Wunderlich, Jessica Schäfer, Daniel Sturm, Jacques Fritze, Burcu Gür, Lew Kaplan, Tommaso Andreani, Tobias Goldmann, Matthew Brooks, Margaret R Starostik, Anagha Lokhande, Melissa Apel, Karl R Fath, Katarina Stingl, Susanne Kohl, Margaret M DeAngelis, Ursula Schlötzer-Schrehardt, Ivana K Kim, Leah A Owen, Jan M Vetter, Norbert Pfeiffer, Miguel A Andrade-Navarro, Antje Grosche, Anand Swaroop, Uwe Wolfrum

Hum Mol Genet. 2023 Feb 1; 32(3): 431–449. Published online 2022 Aug 23. doi: 10.1093/hmg/ddac211

PMCID:: PMC9851744

Abstract Article PDF–2.4M

Select item 984395412.

Thicknesses of the retina and choroid in children with retinitis pigmentosa

Cheng Li, Chunxia Peng, Chengyue Zhang, Ningdong Li

BMC Ophthalmol. 2023; 23: 25. Published online 2023 Jan 17. doi: 10.1186/s12886-023-02772-0

PMCID:: PMC9843954

Abstract Article PDF–1.8M

Select item 974300513.

A PRPH2 Gene Variant Detected in Retinitis Punctata Albescens with Congenital Hypertrophy of the Retinal Pigment Epithelium

Aowang Qiu, Yan Yu, Junlong Huang, Qinghuai Liu, Yannis Paulus, wen fan

Eur J Ophthalmol. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Eur J Ophthalmol. 2022 Jan; 32(1): NP134–NP138. Published online 2020 Oct 8. doi: 10.1177/1120672120962027

PMCID:: PMC9743005

Abstract Article PDF–716K

Select item 941656314.

Exon Skipping Through Chimeric Antisense U1 snRNAs to Correct Retinitis Pigmentosa GTPase-Regulator (RPGR) Splice Defect

Giuseppina Covello, Gehan H. Ibrahim, Niccolò Bacchi, Simona Casarosa, Michela Alessandra Denti

Nucleic Acid Ther. August 2022; 32(4): 333–349. Published online 2022 Aug 4. doi: 10.1089/nat.2021.0053

PMCID:: PMC9416563

Abstract Article PDF–809K

Select item 937149615.

Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation

Meiying Cai, Min Lin, Na Lin, Liangpu Xu, Hailong Huang

Medicine (Baltimore) 2022 Aug 12; 101(32): e30003. Published online 2022 Aug 12. doi: 10.1097/MD.0000000000030003

PMCID:: PMC9371496

Abstract Article PDF–886K

Select item 933071316.

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin

Maria Kaukonen, Michelle E. McClements, Robert E. MacLaren

Genes (Basel) 2022 Aug; 13(8): 1327. Published online 2022 Jul 26. doi: 10.3390/genes13081327

PMCID:: PMC9330713

Abstract Article PDF–1.0M

Select item 932210217.

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

Abstract Article PDF–6.2M

Select item 932179718.

Retinal Ciliopathy in the Patient with Transplanted Kidney: Case Report

Ivona Bućan, Mirjana Bjeloš, Irena Marković, Diana Bućan

Int J Mol Sci. 2022 Jul; 23(14): 7582. Published online 2022 Jul 8. doi: 10.3390/ijms23147582

PMCID:: PMC9321797

Abstract Article PDF–5.6M

Select item 912348419.

Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry

Thomas M. W. Buckley, Amandeep Singh Josan, Laura J. Taylor, Jasleen K. Jolly, Jasmina Cehajic-Kapetanovic, Robert E. MacLaren

Transl Vis Sci Technol. 2022 May; 11(5): 15. Published online 2022 May 16. doi: 10.1167/tvst.11.5.15

PMCID:: PMC9123484

Abstract Article PDF–2.1M

Select item 881950920.

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

Abstract Article PDF–1.9M

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