Results 131 to 140 of about 301,242 (246)

Burden and characteristics of inherited retinal diseases in China. [PDF]

Sci Rep
Lin Y, Dou X, Li L, Zhou W, Zhang W, Wang L, Wang JZ, Shen Y.   +7 more
europepmc   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Role of Angiogenesis in Retinal Diseases and New Advances in Drug Development. [PDF]

Cells
Boey E, Zaidi H, Tang T, Yazdanyar A.
europepmc   +1 more source

Long‐term cardiovascular outcomes of immune checkpoint inhibitor‐related myocarditis: A large single‐centre analysis

ESC Heart Failure, Volume 12, Issue 2, Page 1237-1245, April 2025.
Abstract Aims Immune checkpoint inhibitors (ICI) are the cornerstone of modern oncology; however, side effects such as ICI‐related myocarditis (irM) can be fatal. Recently, Bonaca proposed criteria for irM; however, it is unknown if they correlate well with cardiovascular (CV) ICI‐related adverse events.
Lorenzo Braghieri, Ahmad Gharaibeh, Lubika Nkashama, Abdelrahman Abushouk, Osama Abushawer, Amir Mehdizadeh‐Shrifi, Bianca Honnekeri, Cassandra Calabrese, Venu Menon, Pauline Funchain, Patrick Collier, Diego Sadler, Rohit Moudgil   +12 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Clinical and Molecular Characteristics of Foveal Sparing Phenotype in Chinese Patients With Inherited Retinal Diseases. [PDF]

Transl Vis Sci Technol
Wang Z, Li T, Chen J, Sun Y, Jia H, Sun J, Sun X.   +6 more
europepmc   +1 more source

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis. [PDF]

Invest Ophthalmol Vis Sci
Zhang L, Li H, Duan C, Ju Y, Chang Q, Zhang T, Gao F, Zong Y, Xu G.   +8 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

From Science and Technology to Eye-Health Policy: A Review on Global and Asia-Pacific Strategies on the Prevention of Blindness from Retinal Diseases. [PDF]

Ophthalmol Ther
Das T, Jalali S, Jonas J, Kawasaki R, Saw SM, Sivaprasad S, Tan ACS, Ruamviboonsuk P.   +7 more
europepmc   +1 more source