Results 91 to 100 of about 299,286 (332)

APOBEC-related mutagenesis and neo-peptide hydrophobicity: implications for response to immunotherapy. [PDF]

, 2019
Tumor-associated neo-antigens are mutated peptides that allow the immune system to recognize the affected cell as foreign. Cells carrying excessive mutation load often develop mechanisms of tolerance.
Boichard, Amélie, Frampton, Garrett M, Goodman, Aaron, Kurzrock, Razelle, Lippman, Scott, Pham, Timothy V, Tamayo, Pablo, Tsigelny, Igor F, Yeerna, Huwate   +8 more
core  

Evolution favors protein mutational robustness in sufficiently large populations [PDF]

, 2007
BACKGROUND: An important question is whether evolution favors properties such as mutational robustness or evolvability that do not directly benefit any individual, but can influence the course of future evolution. Functionally similar proteins can differ
A Meyerhans, A Moya, A Wagner, AA Pakula, Alpan Raval, AM Lesk, BW Matthews, CO Wilke, CO Wilke, CO Wilke, CR Otey, D Posada, DA Drummond, David Chen, DC Krakauer, DJ Lipman, DL Hartl, DM Taverna, DM Taverna, E Bornberg-Bauer, E van Nimwegen, E Zuckerkandl, F Sun, Frances H Arnold, G Piganeau, HH Guo, HJ Barnes, JA Wells, JB Plotkin, JD Bloom, JD Bloom, JD Bloom, JD Bloom, JD Bloom, Jesse D Bloom, JM Smith, JM Smith, JN Franklin, KA Bava, L Serrano, M Kimura, M Lynch, M Vignuzzi, MA DePristo, MA Huynen, N Takahata, OG Berg, Ophelia S Venturelli, PC Cirino, PD Sniegowski, R Godoy-Ruiz, R Montville, RE Lenski, S Bershtein, S Brin, S Shafikhani, T Kanagawa, W Besenmatter, X Wang, XJ Zhang, Y Xia, Zhongyi Lu   +61 more
core   +4 more sources

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

The C-terminus of p63 contains multiple regulatory elements with different functions [PDF]

, 2010
The transcription factor p63 is expressed as at least six different isoforms, of which two have been assigned critical biological roles within ectodermal development and skin stem cell biology on the one hand and supervision of the genetic stability of ...
Candi, Eleonora, Durst, Florian, Dötsch, Volker, Melino, Gennaro, Ou, Horng Der, Rajalingam, Krishnaraj, Schäfer, Birgit, Straub, Wesley E., Weber, Tobias Alexander   +8 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

Analysis of mutations of NF1 gene in three patients with neurofibromatosis type I

Pifu-xingbing zhenliaoxue zazhi
[Objective] To detect the gene mutations in three children with neurofibromatosis type1 (NF1), and explore the new pathogenic mutations and phenotypes of NF1. [Methods] Exome sequencing and targeted gene panels were performed in the probands to determine
LIN Yanyan, DONG Shuyan, WANG Huaiyu, LIN Lihang, XIAO Xuemin   +4 more
doaj   +1 more source

Precore/Core Region Mutations in Hepatitis B Virus DNA Predict Postoperative Survival in Hepatocellular Carcinoma. [PDF]

PLoS ONE, 2015
Hepatitis B virus (HBV) DNA is prone to mutations because of the proofreading deficiencies of HBV polymerase. We have identified hepatocellular carcinoma (HCC) survival-associated HBV mutations in the X protein region of HBV DNA. In the present study, we
Ying Xie, Shufeng Liu, Yufei Zhao, Lan Zhang, Yue Zhao, Binghui Liu, Zhanjun Guo   +6 more
doaj   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Arrhythmogenic Right Ventricular Dysplasia: Clinical Characteristics and Identification of Novel Desmosome Gene Mutations

Journal of the Formosan Medical Association, 2008
Background/Purpose: Desmosome gene mutations have been reported in patients with arrhythmogenic right ventricular dysplasia (ARVD). However, there are hardly any genetic studies in Asians.
Chih-Chieh Yu, Cheng-Han Yu, Chia-Hsiang Hsueh, Chi-Tung Yang, Jyh-Ming Juang, Juey-Jen Hwang, Jiunn-Lee Lin, Ling-Ping Lai   +7 more
doaj   +1 more source

Rare cases of medulloblastoma with hypermutation

Cancer Reports, 2022
Background Medulloblastoma is the most common malignant brain tumor of childhood and is considered a tumor with low mutational burden (~1 Mut/Mb). Therefore, though the medulloblastoma genomes have been extensively characterized in literature, reports on
Aditi Bagchi, Ian Beddows, Albert Cornelius, Giles W. Robinson, Scott D. Jewell   +4 more
doaj   +1 more source