Search Results - "Sullivan LS"

The Legacy of the Four Principles in Clinical Bioethics: A Global Perspective.

Authors: Akabayashi, Akira^1,2 (AUTHOR) akira.akabayashi@gmail.com

Source: American Journal of Bioethics. Mar2026, Vol. 26 Issue 3, p82-84. 3p.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Authors: Quinodoz M Rodenburg K Cvackova Z et al.

Source: Nature genetics [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 169-179. Date of Electronic Publication: 2026 Jan 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration.

Authors: Murgiano, Leonardo Niggel, Jessica K. Takahashi, Kei et al.

Source: PLoS Genetics. 12/1/2025, Vol. 21 Issue 12, p1-23. 23p.

Fatty acid-binding protein 5 (FABP5) modulates limbal epithelial cell homeostasis by regulating the expression of key genes under both normal and inflammatory conditions, in vitro.

Authors: Amini, Maryam Hsu, Shao-Lun Stachon, Tanja et al.

Source: PLoS ONE. 4/28/2026, Vol. 21 Issue 4, p1-19. 19p.

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Authors: de Bruijn SE Panneman DM Weisschuh N et al.

Source: Frontiers in genetics [Front Genet] 2024 Oct 23; Vol. 15, pp. 1469686. Date of Electronic Publication: 2024 Oct 23 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy.

Authors: Yang-Seeger, Denise Pauleikhoff, Laurenz J. B. Atiskova, Yevgeniya et al.

Source: Ophthalmic Genetics. Aug2025, Vol. 46 Issue 4, p397-400. 4p.

Spatio-genetically coordinated TPR domain-containing proteins modulate c-di-GMP signaling in Vibrio vulnificus.

Authors: Mustaree, Shobnom Podicheti, Ram Rusch, Doug et al.

Source: PLoS Pathogens. 7/16/2025, Vol. 21 Issue 7, p1-28. 28p.

Ocular drug delivery systems based on nanotechnology: a comprehensive review for the treatment of eye diseases.

Authors: Bairagi, Rahul Dev Reon, Raiyan Rahman Hasan, Md Mahbub et al.

Source: Discover Nano; 5/3/2025, Vol. 20 Issue 1, p1-43, 43p

Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.

Authors: Foa, Nastasia Pfau, Maximilian Ansari, Georg et al.

Source: Ophthalmologica. 2025, Vol. 248 Issue 3, p175-184. 10p.

Bilateral macular colobomata: expanded phenotype of PCARE/C2ORF71.

Authors: Pederzolli, Matteo Servillo, Andrea Sacconi, Riccardo et al.

Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p483-488. 6p.

Cerebral and Mesenteric Perfusion Changes Due to Mydriatic Use for Retinopathy of Prematurity by Near-Infrared Spectroscopy.

Authors: Dörtkardeşler, Burçe Emine Ergin, Fırat Nalçacı, Serhad et al.

Source: Journal of Pediatric Research. Sep2025, Vol. 12 Issue 3, p134-142. 9p.

Silent no more: a comprehensive review of artificial intelligence, deep learning, and machine learning in facilitating deaf and mute communication.

Authors: ZainEldin, Hanaa Gamel, Samah A. Talaat, Fatma M. et al.

Source: Artificial Intelligence Review; Jul2024, Vol. 57 Issue 7, p1-46, 46p

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

Authors: Demas, Nicholas Estrada, Cesar Morales, Paula et al.

Source: BMC Medical Genomics. 8/28/2025, Vol. 18 Issue 1, p1-12. 12p.

Progressive mitochondrial dysfunction impairs visual signal transduction and induces retinal degeneration in Drosophila.

Authors: Cao, Jinguo Li, Yining Hu, Xiaohui et al.

Source: Frontiers in Insect Science. 2025, p1-11. 11p.

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.

Authors: Zhong, Anny Sumaroka, Alexander Tsui, Jonathan C. et al.

Source: Ophthalmic Genetics. Aug2025, Vol. 46 Issue 4, p370-379. 10p.

Evaluation of subretinally delivered Cas9 ribonucleoproteins in murine and porcine animal models highlights key considerations for therapeutic translation of genetic medicines.

Authors: Wei, Spencer C. Cantor, Aaron J. Walleshauser, Jack et al.

Source: PLoS ONE. 6/24/2025, Vol. 20 Issue 6, p1-24. 24p.

Making social sciences foundational to academic medicine.

Authors: Sadjadi, Sahar Barkley, Lisa Jordan-Young, Rebecca et al.

Source: PLoS Medicine. 6/16/2025, Vol. 22 Issue 6, p1-5. 5p.

Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.

Authors: Wangler, Michael F. Chao, Yu-Hsin Roth, Mary et al.

Source: PLoS ONE. 6/11/2025, Vol. 20 Issue 6, p1-22. 22p.

Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers.

Authors: Clark, Rebecca Sarwar, Haider Wong, Leland et al.

Source: Ophthalmic Genetics. Jun2025, Vol. 46 Issue 3, p243-248. 6p.

Lipid homeostasis plays a critical role in inherited and acquired retinal diseases.

Authors: Bhattacharyya, Anwesha Choudhary, Vineet

Source: Communications Biology. 4/16/2026, Vol. 9 Issue 1, p1-14. 14p.