Results 131 to 140 of about 747,509 (280)

Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy

Frontiers in Immunology
Defective α-galactosidase A (AGAL/GLA) due to missense or nonsense mutations in the GLA gene results in accumulation of the glycosphingolipids globotriaosylceramide (Gb3) and its deacylated derivate globotriaosylsphingosine (lyso-Gb3) in cells and body ...
Björn Laffer, Malte Lenders, Elvira Ehlers-Jeske, Karin Heidenreich, Eva Brand, Jörg Köhl, Jörg Köhl   +6 more
doaj   +1 more source

Nonsense Mutation [PDF]

, 2020
openaire   +1 more source

Nonsense Mutation [PDF]

, 2008
  +4 more sources

Nonsense Mutation [PDF]

, 2019
openaire   +3 more sources

Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene. [PDF]

PLoS One, 2023
Palomar-Siles M, Yurevych V, Bykov VJN, Wiman KG.   +3 more
europepmc   +1 more source

Characterization of an aspartate aminotransferase encoded by YPO0623 with frequent nonsense mutations in Yersinia pestis. [PDF]

Front Cell Infect Microbiol, 2023
Jin J, Xiao L, Wu Y, Sun Z, Xiong Z, Li Y, Zhao Y, Yao W, Shen L, Cui Y, Tan Y, Han Y, Du Z, Cui Y, Yang R, Song K, Song Y.   +16 more
europepmc   +1 more source

Suppression of nonsense mutations by small cyclic peptides

Premature termination codons in mRNAs result from nonsense mutations and hinder the translation of full-length, functional proteins. Nonsense mutations cause numerous serious genetic diseases, including cystic fibrosis and Duchenne muscular dystrophy ...
Goldman, Yale E., Hansen, Paul Robert, Birkmose, Nanna, Bhat, Saleem Y., Bhattacharya, Arpan, Cooperman, Barry S., Andersen, Thomas G., Knudsen , Charlotte R., Hunter, Sophia, Larsen, Emilie T.   +9 more
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Engineered tRNAs suppress nonsense mutations in cells and in vivo. [PDF]

Nature, 2023
Albers S, Allen EC, Bharti N, Davyt M, Joshi D, Perez-Garcia CG, Santos L, Mukthavaram R, Delgado-Toscano MA, Molina B, Kuakini K, Alayyoubi M, Park KJ, Acharya G, Gonzalez JA, Sagi A, Birket SE, Tearney GJ, Rowe SM, Manfredi C, Hong JS, Tachikawa K, Karmali P, Matsuda D, Sorscher EJ, Chivukula P, Ignatova Z.   +26 more
europepmc   +1 more source

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

Animal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li, Yuchen He, Yangshuo Hu, Naominggaowa, Huaiqiang Yang, Zhu Meng, Fei Liu, Shiwen Zhang, Yi Jin, Mingxing Chu, Zhangyuan Pan   +10 more
wiley   +1 more source