Results 201 to 210 of about 48,210 (290)

Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnership. [PDF]

BMJ Open
Robertson EG, Hetherington K, Prain M, Ma A, Ayton LN, Jamieson RV, Shepard E, Boyd L, Hall J, Boyd R, Karandrews S, Feller H, Simunovic MP, Grigg JR, Yamamoto K, Wakefield CE, Gonzalez-Cordero A.   +16 more
europepmc   +1 more source

Associations Between Initial Glycated Hemoglobin at Diabetes Diagnosis, Longitudinal Changes and Medication Effects, and the Severity and Progression of Sight‐Threatening Diabetic Retinopathy

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Diabetic retinopathy (DR) is a leading cause of vision impairment in patients diagnosed with Type 2 diabetes mellitus (T2DM). Awareness of risk factors is necessary to reduce or prevent harmful effects of DR such as irreversible vision loss, and to help ensure early treatment.
Yu‐Chi Sung, Yu‐Kuang Chen, Ching‐An Chen, Pei‐Kang Liu, Kai‐Chun Cheng, Wei‐Shan Chang, Chia‐Li Tseng, Hui‐Min Hsieh, Shwu‐Jiuan Sheu   +8 more
wiley   +1 more source

Molecular Mechanism of the IRF1/NFE2L1‐DT/ALKBH5/Cx43 Axis in Radiation‐Induced Injury in Vascular Endothelial Cells Through Pyroptosis

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Radiotherapy effectively eradicates tumor cells but can also trigger pyroptotic damage in vascular endothelial cells. This study investigates the role of interferon regulatory factor 1 (IRF1) in radiation‐induced endothelial injury, aiming to provide mechanistic insights for optimizing radiotherapy.
Chen Li, Jia‐Wen Yang, Yong‐Rui Jia, Jie Zhang, Qiao Gou   +4 more
wiley   +1 more source

Inherited retinal diseases and gene therapy update

Saudi Journal of Ophthalmology, 2023
openaire   +2 more sources

METTL14 Ameliorates Mitochondrial Dysfunction and Autophagy in Lens Epithelial Cells of Diabetic Cataracts via m6A Modification of RPL3

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Diabetic cataracts are a leading cause of blindness, with lens epithelial cells (LECs) exhibiting mitochondrial dysfunction and autophagy inhibition under high glucose (HG) conditions. Methyltransferase‐like 14 (METTL14), an RNA methyltransferase, regulates N6‐methyladenosine (m6A) RNA modification; however, its role in modulating ...
Rui Li, Xue Wang, Wei Du, Qian Li, Hong‐Ping Cui   +4 more
wiley   +1 more source

Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3). [PDF]

Genes (Basel)
Stephenson KAJ, Zhu J, Conway M, Moran B, Dockery A, Whelan L, Turner J, O'Byrne JJ, Flitcroft DI, Farrar GJ, Keegan DJ.   +10 more
europepmc   +1 more source

Glycemic Control, Animal Protein Intake, and the Risk of Diabetic Retinopathy Progression Among Patients With Type 2 Diabetes

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Effective glycemic control and food consumption play crucial roles in modulating diabetic retinopathy (DR) progression. This observational longitudinal study explored the hemoglobin A1c (HbA1c) and dietary patterns and their associations with the risk and progression of DR among 369 individuals with type 2 diabetes.
Yu‐Ju Wu, Chih‐Cheng Hsu, Chih‐Yiu Tsai, Shang‐Jyh Hwang, Kun‐Der Lin, Pi‐Chen Lin, Ya‐Fang Huang, Chiao‐I Chang, Meng‐Chuan Huang   +8 more
wiley   +1 more source

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene. [PDF]

Nat Mach Intell
Pontikos N, Woof WA, Lin S, Ghoshal B, Mendes BS, Veturi A, Nguyen Q, Javanmardi B, Georgiou M, Hustinx A, Ibarra-Arellano MA, Moghul I, Liu Y, Pfau K, Pfau M, Shah M, Yu J, Al-Khuzaei S, Wagner SK, Daich Varela M, Cabral de Guimarães TA, Sen S, Naik G, Sumodhee D, Fu DJ, Kabiri N, Furman J, Liefers B, Lee AY, De Silva SR, Marques C, Motta F, Fujinami-Yokokawa Y, Hardcastle AJ, Arno G, Lorenz B, Herrmann P, Fujinami K, Sallum J, Madhusudhan S, Downes SM, Holz FG, Balaskas K, Webster AR, Mahroo OA, Krawitz PM, Michaelides M.   +46 more
europepmc   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Expanding the Mutation Spectrum for Inherited Retinal Diseases. [PDF]

Genes (Basel)
Lynn J, Huang SJ, Trigler GK, Kingsley R, Coussa RG, Bennett LD.   +5 more
europepmc   +1 more source