Results 171 to 180 of about 2,588,152 (306)

Aqueous Humor Metabolomics in Different Stages of Diabetic Retinopathy Based on Ultra - Performance Liquid Chromatography - Tandem Mass Spectrometry

Diabetes, Metabolic Syndrome and Obesity
Zetong Nie,1,* Shaofang Pang,1,* Zhaoxiong Wang,2,* Meng Yang,1 Xiang Zhang,1 Haoxin Guo,1 Wenbo Li,1 Boshi Liu,1 Weihong Yu,3 Bojie Hu1 1Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National ...
Nie Z, Pang S, Wang Z, Yang M, Zhang X, Guo H, Li W, Liu B, Yu W, Hu B   +9 more
doaj  

Special Issue: "Molecular and Cellular Mechanisms of Retinal Diseases". [PDF]

Int J Mol Sci
Trotta MC.
europepmc   +1 more source

Pediatric Retinal Diseases

Asia-Pacific Journal of Ophthalmology, 2017
Wai-Ching, Lam, R V Paul, Chan
openaire   +2 more sources

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Interocular Symmetry in Anterior Segment Parameters in Children With Intermittent Exotropia Observed by CASIA2 AS-OCT

Journal of Ophthalmology
Jiawei Zhao, Xiaoli Qi, Xiaoyu Zeng, Song Lin, Kadiya Abudukeyimu, Luning Qin, Zong Yu, Nan Wei, Gang Ding, Xue Li, Jing Li, Ning Hua, Xuehan Qian   +12 more
doaj   +1 more source

Environmental Pollution and Related Redox Pathways Contributing to Retinal Diseases. [PDF]

Antioxidants (Basel)
Zhang L, Tang Q, Böhm EW, Wagner FM, Gericke A.   +4 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Whole-Genome Sequencing in Diagnostics of Unsolved Cases of Inherited Retinal Diseases. [PDF]

Int J Mol Sci
Ogorodova N, Stepanova A, Geletskaia P, Kadyshev V, Zinchenko R, Kuznetsova S, Khalanskaya O, Monakhova A, Beskorovainy N, Zabnenkova V, Ryzhkova O, Severinov K, Bychkov I, Polyakov A, Kutsev S, Shchagina O.   +15 more
europepmc   +1 more source

Comparative Analysis of Salmonella typhimurium‐Induced Transcriptomic Changes in the Spleen of Beijing‐You Chickens and Guang Ming Broilers

Animal Research and One Health, EarlyView.
This study analyzed the spleen transcriptomes of different chicken breeds, identified key differentially expressed genes (EGR1, FOS, and DUSP1) that regulate resistance to Salmonella infection, and elucidated the underlying regulatory mechanisms, thereby providing new targets for disease‐resistant breeding in poultry.
Zixuan Wang, Man Deng, He Geng, Jumei Zheng, Xiang Li, Yaping Wang, Qinghe Li, Guiping Zhao, Qiao Wang   +8 more
wiley   +1 more source

Special Issue: Cell Signaling and Molecular Pathology of Retinal Diseases: 2nd Edition. [PDF]

Int J Mol Sci
Tomita H.
europepmc   +1 more source