Results 31 to 40 of about 91,474 (255)

The Use of AAV Vector-based Gene Therapy in the Treatment of Ophthalmic Diseases. Literature Review

Oftalʹmologiâ
Introduction. This review article is devoted to the study of the current state of gene therapy using adeno-associated viruses (AAV) in the treatment of ophthalmic diseases.Objective: The purpose: to evaluate the effectiveness and safety of using gene ...
Z. A. Batyrova, A. Sh. Murtazalieva, J. M. Ramazanova, A. S.‑U. Batchaev   +3 more
doaj   +1 more source

Spontaneous dislocation of a transparent lens to the anterior chamber: A case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2010
Introduction. The causes leading to dislocation of the natural lenses are different involving injuries, hereditary diseases and spontaneous dislocation.
Jovanović Miloš, Stefanović Ivan
doaj   +1 more source

A History of Dystonia: Ancient to Modern [PDF]

, 2017
Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to ...
Deborah Thorpe, Jane Alty, Peter Kempster, Rachel Newby   +3 more
core   +1 more source

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

FEBS Letters, EarlyView.
We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva, Puspa Kunwar, Md Ibnul Rifat Rahman, Joanna Koryo Kwao, Nathan Lehman, Zihan Zhang, Trenton Paul, Claire Cheng, Nicholas Truex, Hui‐Ting Lee, Jun Zhang   +10 more
wiley   +1 more source

Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders [PDF]

International Journal of Ophthalmology, 2018
Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can influence vision and health of our ...
Mahavir Singh, Suresh C Tyagi
doaj   +1 more source

Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic

Frontiers in Immunology, 2023
IntroductionRetinal degenerative or inflammatory changes may occur with hereditary immunological disorders (HID) due to variants in approximately 20 genes.
Yingwei Wang, Yi Jiang, Junwen Wang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang   +8 more
doaj   +1 more source

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
wiley   +1 more source

Prime Editing for Human Gene Therapy: Where Are We Now?

Cells, 2023
Gene therapy holds tremendous potential in the treatment of inherited diseases. Unlike traditional medicines, which only treat the symptoms, gene therapy has the potential to cure the disease by addressing the root of the problem: genetic mutations.
Kelly Godbout, Jacques P. Tremblay
doaj   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source