Results 101 to 110 of about 10,766 (232)

Common Ophthalmic Conditions in Popular Dog Breeds in Japan: Insights From a Survey of 105 Veterinarians Practicing Ophthalmology

Veterinary Ophthalmology, Volume 29, Issue 4, July 2026.
ABSTRACT Objective To identify commonly presented dog breeds and potentially heritable ophthalmic diseases encountered by veterinarians practicing ophthalmology in Japan. Methods A survey was distributed through the Japanese Society of Comparative and Veterinary Ophthalmology.
Victoria Caballero, Arisu Kobayashi, Yasuyoshi Umeda, Susumu Hirashima, Yuichiro Muramatsu, Mitsuharu Ota, Makoto Yamashita, Yukako Kobayashi, Keiko Miyadera   +8 more
wiley   +1 more source

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

, 2013
Retinal dystrophies are predominantly caused by mutations affecting the visual phototransduction system and cilia, with few genes identified that function to maintain photoreceptor survival.
Sauvé, Yves, De Baere, Elfride, Sundaresan, Periasamy, Lopez, Irma, Allison, W Ted, Berry, Red B, DuVal, Michele, French, Curtis R, Asai-Coakwell, Mika, Lehmann, Ordan J, Waskiewicz, Andrew J, March, Lindsey, Koenekoop, Robert K, Famulski, Jakub, Francis, Peter J   +14 more
core   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian, Qi Zhao, Yanfang Li, Lihua Li, Zhongwei Li, Miaolian Zhang, Suihua Feng, Qiang Zhao   +7 more
wiley   +1 more source

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

Transfusion, EarlyView.
Eric A. Gehrie, Kevin J. Land
wiley   +1 more source

Crosstalk between endoplasmic reticulum stress and mitochondrial homeostasis: A new perspective on ophthalmic disease treatment

Journal of Cell Communication and Signaling, Volume 20, Issue 2, June 2026.
The graphical abstract follows a top‐to‐bottom flow: stressors → ER–mitochondria crosstalk → ophthalmic diseases. The central panel highlights three core mitochondria‐associated membrane function axes, color‐coded as follows: light yellow for Ca2+ homeostasis, light blue for mitochondrial dynamics, and light red for mitophagy.
Luyang Jiang, Gongsang Cuomu, Sang Jijia, Yumei Yang, Jufen Liu, Yumin Tao   +5 more
wiley   +1 more source

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

Smart Polymer‐Based Drug Delivery Systems for Managing Infective Conjunctivitis: Advances and Future Prospects

Nano Select, Volume 7, Issue 6, June 2026.
The introduction covers the background and significance of conjunctivitis. It continues with a review of etiology, epidemiology, and clinical manifestations. Diagnostic methods are described, followed by discussions on pathophysiology and classification. Current treatment strategies, preventive measures, and therapeutic challenges are analyzed.
Xia Linkang, Marwan Abdelmahmoud Abdelkarim Maki, Saad Tayyab, Sachin Thakur, Pankaj Kumar, Ritu Karwasra, Mahesh Harihar Behare, Nitin Sharma, Wan Hamirul Bahrin Wan Kamal, Oganeswary Kobi, Kushagra Khanna, Mogana Rajagopal   +11 more
wiley   +1 more source

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy

Neural Plasticity, 2018
Inherited retinal dystrophies (IRDs) are a leading cause of visual impairment in the developing world. These conditions present an irreversible dysfunction or loss of neural retinal cells, which significantly impacts quality of life.
Carla Sanjurjo-Soriano, Vasiliki Kalatzis   +1 more
doaj   +1 more source