Results 111 to 120 of about 15,770 (195)

Translational Retinal Research and Therapies. [PDF]

, 2018
The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D, Beltran, William A, Cideciyan, Artur V, Flannery, John G, Hardcastle, Alison J, Jacobson, Samuel G, Sahel, José-Alain, Sieving, Paul A   +7 more
core   +1 more source

Personalized Prognosis and Diagnosis of Type 2 Diabetes - Vision or Fiction? [PDF]

, 2010
Typical civilization diseases, such as type 2 diabetes, share several features: their worldwide frequency, the complexity of the underlying pathogenic mechanisms, heterogeneity in the phenotypes and their multifactorial nature due to a wide variety of ...
Mueller, Guenter
core   +1 more source

Peptide signaling at the intersection of growth, nutrient sensing, and stress responses

The Plant Journal, Volume 125, Issue 4, February 2026.
SUMMARY Plant endogenous peptides emerge as central regulators of multiple aspects of plant physiology. They are secreted from cells and perceived by plasma membrane localized receptors, which activate downstream signaling pathways to regulate growth and development. In addition, endogenous peptides coordinate physiology with their environment.
Patricia Zecua‐Ramirez, Vikram Jha, Martin Stegmann   +2 more
wiley   +1 more source

An algebraic method to calculate parameter regions for constrained steady-state distribution in stochastic reaction networks

, 2018
Steady state is an essential concept in reaction networks. Its stability reflects fundamental characteristics of several biological phenomena such as cellular signal transduction and gene expression.
Hasegawa, Yoshihiko, Van Vu, Tan
core   +1 more source

Loss of spermatogonia and wide-spread DNA methylation defects in newborn male mice deficient in DNMT3L [PDF]

, 2007
Background: Formation of haploid spermatozoa capable of fertilization requires proper programming of epigenetic information. Exactly how DNMT3L (DNA methyltransferase 3-Like), a postulated regulator of DNA methyltransferase activity, contributes to DNA ...
Christopher C Oakes, Déborah Bourc'his, Jacquetta M Trasler, Oana R Neaga, Sophie La Salle, Timothy H Bestor   +5 more
core   +2 more sources

Junctional conductance of retinal AII amacrine cell electrical synapses is decreased by NMDA receptors

The Journal of Physiology, Volume 604, Issue 3, Page 1373-1390, 1 February 2026.
Abstract figure legend AII amacrine cells are an important class of interneuron in the vertebrate retina. In addition to traditional chemical synapses these cells communicate with other neurons and with each other via electrical synapses. (A) Electrical synapse strength between AII amacrine cells was measured using dual whole‐cell patch‐clamp ...
Chloe Cable, Sidney P. Kuo, Eric A. Newman   +2 more
wiley   +1 more source

Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation

American Journal of Ophthalmology Case Reports, 2017
Purpose: To report the clinical and genetic findings of a male toddler who presented bilateral bullous retinoschisis with a novel RS1 mutation. Observations: This is an observational case report of a patient referred to our hospital with esotropia.
Satoshi Katagiri, Shin Tanaka, Tadashi Yokoi, Takaaki Hayashi, Emiko Matsuzaka, Kazuko Ueda, Tomoyo Yoshida-Uemura, Akira Arakawa, Sachiko Nishina, Kazuaki Kadonosono, Noriyuki Azuma   +10 more
doaj   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir, Archer, Ariani, Artuso, Bahi-Buisson, Carney, Christen, Einspieler, Goutieres, Hagberg, Hagberg, Hagberg, Hagberg, Hanefeld, Huppke, Kankirawatana, Leonard, Neul, Percy, Renieri, Rett, Rolando, Wan, Watson, Zappella   +24 more
core   +1 more source

Identification of TNFSF13, SPATC1L, SLC22A25 and SALL4 as novel susceptibility loci for atrial fibrillation by an exome‑wide association study [PDF]

, 2017
An exome‑wide association study (EWAS) was performed to identify genetic variants, particularly low‑frequency or rare coding variants with a moderate to large effect size, that confer susceptibility to atrial fibrillation in Japanese. The EWAS for atrial
Arai Tomio, Fujimaki Tetsuo, Fujiwara Yoshinori, Horibe Hideki, Kato Kimihiko, Kawai Hisashi, Mori Seijiro, Muramatsu Masaaki, Obuchi Shuichi, Oguri Mitsutoshi, Sakuma Jun, Sawabe Motoji, Shinkai Shoji, Takeuchi Ichiro, Tanaka Masashi, Taniguchi Yu, Yamada Yoshiji, Yasukochi Yoshiki, 佐久間 淳   +18 more
core   +1 more source

Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma

Indian Journal of Ophthalmology, 2019
A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder
Harathy Selvan, Anshul Sharma, Shweta Birla, Shikha Gupta, Bindu I Somarajan, Viney Gupta, Arundhati Sharma   +6 more
doaj   +1 more source