Results 161 to 170 of about 48,210 (290)

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Mental health outcomes in patients with inherited retinal diseases: a systematic review and meta-analysis. [PDF]

Int J Retina Vitreous
Abu Serhan H, Ahmed A, Sbei O, Kojan W, Chaudhry M, Khalid M, Sheraz A, Al-Moujahed A.   +7 more
europepmc   +1 more source

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +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

Real-World Comparison of Overall Survival Among Patients With and Without Inherited Retinal Diseases. [PDF]

Vision (Basel)
Lam BL, Mendoza-Santiesteban CE, Pilon D, Milentijevic D, Morrison L, Schwartzbein S, Vanden Eynde C, Lafeuille MH, Lefebvre P, Gregori NZ.   +9 more
europepmc   +1 more source

New roles for the major human 3\u27–5\u27 exonuclease TREX1 in human disease [PDF]

, 2008
Atkinson, John P, Kavanagh, David, Kothari, Parul H, Liszewski, M Kathryn, Richards, Anna, Shaikh, Aisha, Spitzer, Dirk   +6 more
core   +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

Inherited Retinal Diseases with High Myopia: A Review. [PDF]

Genes (Basel)
Liu C, Sheri N, Benson MD.
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