Results 241 to 250 of about 3,963,692 (395)

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases. [PDF]

Mol Genet Metab Rep
Yoldaş Çelik M, Köşeci B, Burgaç E, Yararbaş K.   +3 more
europepmc   +1 more source

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, EarlyView.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 more
wiley   +1 more source

Skeletal muscle SIRT1 and the genetics of metabolic health: therapeutic activation by pharmaceuticals and exercise

, 2012
Williams CB, Gurd BJ
openalex   +4 more sources

Global research trends and therapeutic potential of fibrinolytic enzymes. [PDF]

J Genet Eng Biotechnol
Hazare C, Bhagwat P, Singh S, Pillai S.
europepmc   +1 more source

The PI3Kδ inhibitor roginolisib (IOA‐244) preserves T‐cell function and activity

Molecular Oncology, EarlyView.
Identification of novel PI3K inhibitors with limited immune‐related adverse effects is highly sought after. We found that roginolisib and idelalisib inhibit chronic lymphocytic leukemia (CLL) cells and Treg suppressive functions to similar extents, but roginolisib affects cytotoxic T‐cell function and promotion of pro‐inflammatory T helper subsets to a
Elise Solli, Alessio Bevilacqua, Mathias Wenes, Denis Migliorini, Lars van der Veen, Sigrid S Skånland, Giusy Di Conza, Kjetil Taskén   +7 more
wiley   +1 more source

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

Human Molecular Genetics, 1998
A. Payne, S. Downes, D. Bessant, R. Taylor, G. Holder, M. Warren, A. C. Bird, S. Bhattacharya   +7 more
semanticscholar   +1 more source

Targeting p38α in cancer: challenges, opportunities, and emerging strategies

Molecular Oncology, EarlyView.
p38α normally regulates cellular stress responses and homeostasis and suppresses malignant transformation. In cancer, however, p38α is co‐opted to drive context‐dependent proliferation and dissemination. p38α also supports key functions in cells of the tumor microenvironment, including fibroblasts, myeloid cells, and T lymphocytes.
Angel R. Nebreda
wiley   +1 more source

GM2 Gangliosidosis AB Variant: A Hidden Truth. [PDF]

Cureus
Noites I, Coelho AS, Magalhães C, Ramos S, Laranjeira F, Lacerda L, Taipa R, Garrido C, Temudo T, Figueiroa S.   +9 more
europepmc   +1 more source

Community Analysis of Ammonia Oxidizing Bacteria through Molecular Genetics in Activated Sludge of Effluent Treatment Plant

, 2015
Maulin P. Shah, Chongxuan Liu, Nitin Gawande, Jmbt, M Shah, M Shah, M Shah, K Patel, S Siripong, B Rittmann, G Wells, H Park, C Yeung, B Eggleston, C Francis, H Satoh, T Yamakawa, T Kindaichi, T Ito, S Okabe, X Wang, X Wen, C Criddle, G Wells, J Zhang, J Lim, H Do, S Shin, S Hwang, K Gilbride, D Lee, L Beaudette, B Zhang, B Sun, M Ji, H Liu, X Liu, T Limpiyakorn, F Kurisu, Y Sakamoto, O Yagi, M Dytczak, K Londry, J Oleszkiewicz, A Akarsubasi, O Eyice, I Miskin, I Head, T Curtis, M Pholchan, Baptista Jde, C Davenport, R Curtis, T, L Wittebolle, H Vervaeren, W Verstraete, N Boon, A Briones, L Raskin, J Stephen, A Mccaig, Z Smith, J Prosser, T Embley, G Kowalchuk, J Stephen, De Boer, W Prosser, J Embley, T, U Edwards, T Rogall, H Blcker, M Emde, E Bttger, V Sheffield, D Cox, L Lerman, R Myers, G Muyzer, S Hottentrager, A Teske, C Wawer, J Stephen, G Kowalchuk, Mav Bruns, A Mccaig, C Phillips, T Jukes, C Cantor, N Saitou, M Nei, W Pearson, D Lipman, P Bodelier, J Libochant, C Blom, H Laanbroek, V Degrange   +99 more
openalex   +1 more source

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source