Results 251 to 260 of about 141,024 (299)

A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6. [PDF]

J Diabetes
Li Y, Wen Q, Shao H, Hao M, Sun Y, Liu T.   +5 more
europepmc   +1 more source

XIAP Deficiency Impairs Colonic Tuft Cell Development and Predisposes to Crohn's Disease

MedComm, Volume 7, Issue 5, May 2026.
XIAP deficiency leads to impaired colonic tuft cells development and JAK–‐STAT pathway hyperactivation in CD patients and mice. Mechanically, XIAP regulates tuft cells development through Wnt–‐TLE4/TCF–‐ASCL2 signaling. Tuft cells deficiency predisposes XIAP‑‐deficient CD patients or Xiap−/−‐/‐ mice to hazardous microbial effects, driving colonic ...
Rongli Fang, Wei Wang, Li Zhang, Jiwei Huang, Lei Huang, Huibo Wu, Yuyin Qi, Lili Li, Liren Tan, Min Zhang, Jianheng Zhu, Xiang Peng, Kanghua Zhong, Ming Zou, Xi Yang, Qiuhua Wang, Changjun Nie, Chaorui Tang, Ning Tang, Lanlan Geng, Hanhan Chen, James E. Vince, Hirokazu Kanegane, Xiaodong Zhao, Huifang Xian, Wenhao Zhou, Min Zhi, Yuxia Zhang, Zhanghua Chen   +28 more
wiley   +1 more source

Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse. [PDF]

Mol Ther Nucleic Acids
Jin M, Lin J, Li H, Li Z, Yang D, Wang Y, Yu Y, Shao Z, Chen L, Wang Z, Zhang Y, Zhang X, Wang N, Xu C, Yang H, Chen WJ, Li G.   +16 more
europepmc   +1 more source

Unnatural Amino Acid-Based Ionic Liquid Enables Oral Treatment of Nonsense Mutation Disease in Mice. [PDF]

Adv Sci (Weinh)
Shi Y, Shi N, Yang Y, Zheng Z, Xia Q.
europepmc   +1 more source

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Nonsense Mutations in Eukaryotes

Biochemistry (Moscow), 2022
Nonsense mutations are a type of mutations which results in a premature termination codon occurrence. In general, these mutations have been considered to be among the most harmful ones which lead to premature protein translation termination and result in shortened nonfunctional polypeptide. However, there is evidence that not all nonsense mutations are
openaire   +2 more sources

Serum starvation enhances nonsense mutation readthrough

Journal of Molecular Medicine, 2019
Of all genetic mutations causing human disease, premature termination codons (PTCs) that result from splicing defaults, insertions, deletions, and point mutations comprise around 30%. From these mutations, around 11% are a substitution of a single nucleotide that change a codon into a premature termination codon. These types of mutations affect several
Amnon, Wittenstein, Michal, Caspi, Yifat, David, Yamit, Shorer, Prathamesh T, Nadar-Ponniah, Rina, Rosin-Arbesfeld   +5 more
openaire   +2 more sources

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

Human Molecular Genetics, 1993
The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of alpha-L-fucosidase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1.
Seo, Hee-Chan, Willems, Patrick J., O'Brien, John S.   +2 more
openaire   +3 more sources

Nonsense Mutations in Human Transcobalamin II Deficiency

Biochemical and Biophysical Research Communications, 1994
Reverse transcription-polymerase chain reaction has been used to amplify, clone and sequence transcobalamin II (TC II) cDNA from fibroblasts of three unrelated TC II deficient patients who had undetectable TC II protein and mRNA in their fibroblasts (Li et al., Biochem. J, 301, 585-590, 1994).
N, Li, D S, Rosenblatt, B, Seetharam
openaire   +2 more sources