Results 101 to 110 of about 133,000 (265)

RNA virus attenuation by codon pair deoptimisation is an artefact of increases in CpG/UpA dinucleotide frequencies [PDF]

, 2014
Mutating RNA virus genomes to alter codon pair (CP) frequencies and reduce translation efficiency has been advocated as a method to generate safe, attenuated virus vaccines.
David J Evans, Fiona Tulloch, Evans, David John, Tulloch, F., Ryan, M. D., Atkinson, N. J., Ryan, Martin D., Tulloch, Fiona, Martin D Ryan, Simmonds, Peter, Nicky J Atkinson, Atkinson, Nicky J., Peter Simmonds, Evans, David J., Simmonds, P., Evans, D. J.   +15 more
core   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

UPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation

BMC Biotechnology, 2018
Background Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia.
Francesca Salvatori, Mariangela Pappadà, Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, Ilaria Lampronti, Roberto Gambari, Monica Borgatti   +7 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]

, 2003
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P, J. L. Jameson, A. Spada, Spada, A, G. Mantovani, Weiss, J, P. Beck-Peccoz, Ozisik, G, L. Persani, Achermann, JC, Mantovani, G, J. C. Achermann, J. Weiss, Persani, L, Jameson, JL, G. Ozisik   +15 more
core   +1 more source

Establishment and rescue of fibroblast cell lines carrying a nonsense mutation of RB1 by CRISPR-based base editing

Scientific Reports
Pathogenic variants of the RB1 gene have commonly been found in many cancer types, including retinoblastoma. Nonsense mutations are the most common mutation type in retinoblastoma; however, few cell lines mimic nonsense mutations in the RB1 gene that are
Youngri Jung, Eunhee Seo, Soyeon Yang, Sangsu Bae, Jeong Hun Kim, Hyeon-ki Jang, Dong Hyun Jo   +6 more
doaj   +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

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundPrecision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients.
Yee‐Ki Lee, Yee‐Man Lau, Zhu‐Jun Cai, Wing‐Hon Lai, Lai‐Yung Wong, Hung‐Fat Tse, Kwong‐Man Ng, Chung‐Wah Siu   +7 more
doaj   +1 more source

MiniSdd7‐Derived Cytosine Base Editor Promotes Efficient Multiplex Gene Knockout in Porcine Primary Fibroblasts

Animal Research and One Health, EarlyView.
The miniSdd7‐BE4max‐SpG system enables highly efficient multiplex C‐to‐T base editing of APN, CD163, and MSTN in porcine fibroblasts, providing a robust platform for future development of multiplex gene‐edited livestock. ABSTRACT Efficient multiplex genome editing is essential for improving complex traits in livestock that are governed by multiple ...
Shaoshuai Wang, Yu Wang, Dengfeng Bi, Jianguo Zhao, Yanfang Wang   +4 more
wiley   +1 more source