Results 81 to 90 of about 1,866,513 (309)

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

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

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]

, 2010
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O, Freisinger, P, Hansikova, H, Honzik, T, Houstek, J, Huemer, M, Jesina, P, Kmoch, S, Koch, J, Kostkova, O, Magner, M, Mayr, JA, Sperl, W, Tesarova, M, Van Coster, Rudy, Zeman, J   +15 more
core   +2 more sources

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

Evolution Equation of Phenotype Distribution: General Formulation and Application to Error Catastrophe

, 2006
An equation describing the evolution of phenotypic distribution is derived using methods developed in statistical physics. The equation is solved by using the singular perturbation method, and assuming that the number of bases in the genetic sequence is ...
A. E. Mayo, A. Kashiwagi, E. Akin, E. Baake, H. A. Orr, H. Haken, H. Risken, J. F. Crow, J. Hofbauer, John G. Kemeny, K. Kaneko, Katsuhiko Sato, Kunihiko Kaneko, M. S. Waterman, N. G. van Kampen, P. M. Morse, R. E. Lenski, S. Kauffman   +17 more
core   +1 more source

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Prognostic analysis of patients with mutant and wild-type EGFR gene lung adenocarcinoma

Cancer Management and Research, 2019
Hongmei Zheng, Yuting Zhang, Yuting Zhan, Sile Liu, Junmi Lu, Juan Feng, Xia Wu, Qiuyuan Wen, Songqing FanDepartment of Pathology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, People’s Republic of ChinaPurpose: The
Zheng H, Zhang Y, Zhan Y, Liu S, Lu J, Feng J, Wu X, Wen Q, Fan S   +8 more
doaj  

L-Arabinose Isomerase Formation in a Conditional Mutant of Gene \u3cem\u3earaA\u3c/em\u3e of \u3cem\u3eEscherichia coli\u3c/em\u3e B/r [PDF]

, 1972
A temperature-sensitive mutant of Escherichia coli in which the synthesis of l-arabinose isomerase is blocked during growth at 42 C was found to possess the following properties.
Irr, Joseph, Pauley, Judith, Power, Joseph   +2 more
core   +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