Results 181 to 190 of about 736,700 (337)

Mutagenic Potentials of DNA Interstrand Cross-Links Induced by 7,8-Dihydro-8-Oxoadenine. [PDF]

Molecules
Schmaltz LF, Rodriguez N, Lee S.
europepmc   +1 more source

Adult Vanishing White Matter Disease with a Novel EIF2B4 Mutation

, 2022
Ting Su, Haijun Yuan, Wei Gao, Huaxin Li, Mei Yuan, M Bugiani, I Boor, J Powers, G Scheper, Van Der Knaap 1, Ms, La Piana, R Vanderver, A Van Der Knaap, M Roux, L, 2 Tampieri, D Brais, B, P Labauge, L Horzinski, X Ayrignac, P Blanc, S Vukusic, 3 Rodriguez, D, C Wei, Q Qin, F Chen, A Zhou, F Wang, X Zuo, H Van Der Lei, C Van Berkel, W Van Wieringen, Brenner Feigenbaum, A Mercimek-Mahmutoglu, S, C Carra-Dalliere, L Horzinski, X Ayrignac, S Vukusic, 6 Rodriguez, D Mauguiere, F   +44 more
openalex   +2 more sources

Combining Three Peripheral Blood Biomarkers to Stratify Rheumatoid Arthritis‐Associated Interstitial Lung Disease Risk

Arthritis Care &Research, Accepted Article.
Objective The purpose was to evaluate a biomarker score consisting of MUC5B rs35705950 promoter variant, plasma matrix metalloproteinase (MMP)‐7, and serum anti‐malondialdehyde‐acetaldehyde (anti‐MAA) antibody for RA‐associated interstitial lung disease risk stratification. Methods Using a multicenter cohort of US veterans with RA, we performed a cross‐
Kelsey Coziahr, Austin M. Wheeler, Brent A. Luedders, Michael Duryee, Halie Frideres, Katherine D. Wysham, Grant W. Cannon, Gary Kunkel, Dana P. Ascherman, Paul A. Monach, Gail S. Kerr, Andreas M. Reimold, Scott M. Matson, Joshua F. Baker, Geoffrey M. Thiele, Ted R. Mikuls, Bryant R. England   +16 more
wiley   +1 more source

Single Nucleotide Polymorphisms in the Promoter Region of <i>MyoG</i> Gene Affecting Growth Traits and Transcription Factor Binding Sites in Guizhou White Goat (<i>Capra hircus</i>). [PDF]

Genes (Basel)
Song X, Long H, Meng J, Zhao Y, Wu Z, An Q.   +5 more
europepmc   +1 more source

PTPN11 Mutations in the Ras-MAPK Signaling Pathway Affect Human White Matter Microstructure

, 2020
Mustafa Fattah, Mira M. Raman, Allan L. Reiss, Tamar Green   +3 more
openalex   +2 more sources

A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter [PDF]

, 2018
Dineshani Hettiaracchchi, Nilaksha Neththikumara, B. A. P. S. Pathirana, Anuruddha Padeniya, Vajira H. W. Dissanayake   +4 more
openalex   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation. [PDF]

Medicine (Baltimore)
Wang K, Huang W, Zhu J.
europepmc   +1 more source

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]

, 2017
Gao, Meng, Hu, Xuebin, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Lu, Zhaojing, Shu, Xinhua, Soares, Dinesh C., Tang, Zhaohui, Weng, Jun, Xiao, Qing, Yang, Lifang, Yu, Shanshan   +15 more
core   +1 more source

Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.

, 2013
Alex E. Roher, Chera L. Maarouf, Michael Malek‐Ahmadi, Jeffrey S. Wilson, Tyler A. Kokjohn, Ian D. Daugs, Charisse M. Whiteside, Walter M. Kalback, Mi Mi P. Macias, Sandra A. Jacobson, Marwan N. Sabbagh, Bernardino Ghetti, Thomas G. Beach   +12 more
openalex   +1 more source