Results 131 to 140 of about 9,448,988 (355)

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Expanding the Phenotype of CYFIP2‐Related Developmental Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society
Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated.
Michaela Squire, Jenna K. Lea, Zheng (Jane) Fan, Senyene E. Hunter   +3 more
doaj   +1 more source

Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency. [PDF]

Biomedicines, 2023
Seker Yilmaz B, Gissen P.
europepmc   +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

Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality. [PDF]

Elife, 2022
Sabharwal A, Wishman MD, Cervera RL, Serres MR, Anderson JL, Holmberg SR, Kar B, Treichel AJ, Ichino N, Liu W, Yang J, Ding Y, Deng Y, Lacey JM, Laxen WJ, Loken PR, Oglesbee D, Farber SA, Clark KJ, Xu X, Ekker SC.   +20 more
europepmc   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Gene therapy by hepatocyte growth factor results in regression of experimental liver fibrosis

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2010
Aim of investigation. Studying of efficacy of genetic therapy of liver fibrosis at mice by human hepatocyte growth factor (HGF) and evaluation of potentials of hydroporation method for delivery of genetic complexes to the liver.Material and methods ...
N. A. Dzhoyashvili, N. I. Kalinina, I. B. Beloglazova, Z. I. Tsokolayeva, P. I. Makarevich, Yu. L. Perov, Ye. V. Parfenova, V. A. Tkachuk   +7 more
doaj  

Correction: Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models. [PDF]

Gene Ther, 2023
Chilcott EM, Muiruri EW, Hirst TC, Yáñez-Muñoz RJ.   +3 more
europepmc   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source