Results 111 to 120 of about 27,235 (216)

Photopharmacology: A new paradigm for vision restoration

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Robert J. Casson
wiley   +1 more source

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio, Camille Vatier, Émilie Capel, Carine Beaupère, Martine Auclair, Virginie Steunou, Romain Morichon, Michael Joubert, Corinne Vigouroux, Jérémie Gautheron, Isabelle Jéru   +10 more
wiley   +1 more source

Stargadt’s disease in two Nigerian siblings

International Medical Case Reports Journal, 2013
Tunji S Oluleye, Akinsola Sunday Aina, Tarela Frederick Sarimiye, Segun Isaac Olaniyan Retinal and Vitreous Unit, University College Hospital, Ibadan, Nigeria Abstract: Stargardt’s disease is an inherited macular dystrophy that is transmitted in an
Oluleye TS, Aina AS, Sarimiye TF, Olaniyan SI   +3 more
doaj  

Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series. [PDF]

Oman Med J
Al Shamsi B, Ganesh A, Harikrishna B, Al Zuhaibi S, Markovic I, Mansy A, Al Thihli K, Ahmad F, Mameesh M, Al Murshedi F.   +9 more
europepmc   +1 more source

Pathogenicity Analysis of Two Novel CRB1 Mutations in Three Chinese Inherited Retinal Dystrophy Families and a Literature Review. [PDF]

Transl Vis Sci Technol
Wang Y, Guo Q, Li Y, Liu C, Yao S, Lei B.   +5 more
europepmc   +1 more source

Redefining the role of the transfusion medicine physician in the era of advanced cellular therapies

Transfusion, Volume 66, Issue 8, Page 1645-1656, August 2026.
Eric A. Gehrie, Kevin J. Land
wiley   +1 more source

Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients. [PDF]

NPJ Genom Med
Koyanagi Y, Murakami Y, Kominami T, Fukushima M, Goto K, Yokota S, Mizobuchi K, Mawatari G, Torii K, Inoue Y, Ota J, Okuda D, Fujiwara K, Yamaga H, Hisai T, Endo M, Iijima H, Kaida T, Miyata K, Nakazaki S, Hayashi T, Hirami Y, Akiyama M, Terao C, Momozawa Y, Sonoda KH, Nishiguchi KM, Ikeda Y.   +27 more
europepmc   +1 more source

CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History. [PDF]

Ophthalmol Retina, 2023
Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M.   +10 more
europepmc   +1 more source

The Role of Artificial Intelligence in Imaging-Based Diagnosis of Retinal Dystrophy and Evaluation of Gene Therapy Efficacy. [PDF]

J Pers Med
Chuchmacz W, Bobowska B, Forma A, Dzierżyński E, Puźniak D, Teresińska B, Baj J, Dolar-Szczasny J.   +7 more
europepmc   +1 more source

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy. [PDF]

Am J Hum Genet
Moye AR, McCafferty CL, Lin S, Han JH, Dudakova L, Rodenburg K, Szabó V, Nagy ZZ, Zur D, Vajter M, Kousal B, Moulin AP, Graff-Meyer A, Roosing S, Mahroo OA, Arno G, Webster AR, Ben-Yosef T, Liskova P, Engel BD, Zobor D, Quinodoz M, Rivolta C.   +22 more
europepmc   +1 more source