Results 21 to 30 of about 141,024 (299)

Procedure for Identifying Nonsense Mutations [PDF]

Journal of Bacteriology, 1968
A method has been devised for the rapid identification of nonsense mutations (UAG, UAA, UGA codons) in Salmonella . The mutations to be tested are reverted, and the revertants are replica-printed onto lactose plates spread with lawns of tester strains.
D, Berkowitz, J M, Hushon, H J, Whitfield, J, Roth, B N, Ames   +4 more
openaire   +2 more sources

Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]

, 2018
Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K., Iomini, Carlo, Lin, Huawen, Zhang, Zhengyan   +3 more
core   +2 more sources

Rescue of nonsense mutations by amlexanox in human cells

Orphanet Journal of Rare Diseases, 2012
Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense ...
Gonzalez-Hilarion Sara, Beghyn Terence, Jia Jieshuang, Debreuck Nadège, Berte Gonzague, Mamchaoui Kamel, Mouly Vincent, Gruenert Dieter C, Déprez Benoit, Lejeune Fabrice   +9 more
doaj   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +5 more sources

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model [PDF]

, 2016
Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutations within a single gene, CHM Currently no effective treatment exists for these patients.
Coffey, P, da Cruz, L, Kalatzis, V, Moosajee, M, Smart, M, Torriano, S, Tracey-White, D, Webster, AR, Weetall, M, Welch, E   +9 more
core   +1 more source

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Biomedicines, 2022
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia.
Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri, Marco Cipolli   +14 more
doaj   +1 more source

A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease [PDF]

, 2015
Missense/nonsense mutations and micro-deletions/micro-insertions of
Aguilera, Bacolla, Bacolla, Bacolla, Bacolla, Bacolla, Ball, Belotserkovskii, Bharti, Biffi, Bochman, Boyer, Brooks, Bzymek, Cebrián, Chen, Chen, Chuzhanova, Clark, Cooper, Cooper, Cooper, De, Ding, Dong, Du, Fleming, Greenblatt, Guo, Gusev, Iyer, Jain, Jain, Javadekar, Jeitany, Kaushik Tiwari, Kondrashov, Kouzine, Kregten, Kunkel, Kunkel, Kunkel, Lam, Lee, Levinson, León-Ortiz, Lopes, Lovett, Lu, Majumdar, Margolin, Morikawa, Mort, Mukherjee, Mukherjee, Murat, Nambiar, Patel, Raghavan, Reeves, Rosche, Rouleau, Sanders, Schofield, Sen, Sharma, Sinden, Sinden, Spurlock, Stenson, Stenson, Tappino, Vasquez, Verdin, Wang, Wells, Wickramasinghe, Williams, Wu, Wu, Wu, Wu, Yang, You, Zhao, Zhao, Zhou   +86 more
core   +1 more source

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +1 more source

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

SAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, Ni Zhang   +4 more
doaj   +1 more source