Nonsense mutation (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Nonsense mutation" in English language version.

refsWebsite

Global rank English rank

27nih.gov

4^th place

19doi.org

2^nd place

8worldcat.org

5^th place

7semanticscholar.org

11^th place

8^th place

3harvard.edu

18^th place

17^th place

1sciencedirect.com

149^th place

178^th place

1biologydictionary.net

low place

1annualreviews.org

3,867^th place

3,957^th place

1wikimedia.org

low place

1wiley.com

222^nd place

297^th place

1bmj.com

1,226^th place

1,421^st place

1nature.com

234^th place

397^th place

1ptcbio.com

low place

1pharmaceutical-technology.com

low place

annualreviews.org

Murgola, Emanuel J. (December 1985). "tRNA, SUPPRESSION, AND THE CODE". Annual Review of Genetics. 19 (1): 57–80. doi:10.1146/annurev.ge.19.120185.000421. ISSN 0066-4197. PMID 2417544.

biologydictionary.net

"Nonsense Mutation — Definition, Example, Outcomes". Biology Dictionary. 2018-08-26. Retrieved 2022-12-02.

bmj.com

jmg.bmj.com

Shintani, M; Yagi, H; Nakayama, T; Saji, T; Matsuoka, R (2009-05-01). "A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension". Journal of Medical Genetics. 46 (5): 331–7. doi:10.1136/jmg.2008.062703. ISSN 0022-2593. PMID 19211612. S2CID 44932041.

doi.org

Sharma, Jyoti; Keeling, Kim M.; Rowe, Steven M. (2020-08-15). "Pharmacological approaches for targeting cystic fibrosis nonsense mutations". European Journal of Medicinal Chemistry. 200: 112436. doi:10.1016/j.ejmech.2020.112436. PMC 7384597. PMID 32512483.
Potapova, Nadezhda A. (2022-05-01). "Nonsense Mutations in Eukaryotes". Biochemistry (Moscow). 87 (5): 400–412. doi:10.1134/S0006297922050029. ISSN 1608-3040. PMID 35790376. S2CID 248793651.
Balasubramanian, Suganthi; Fu, Yao; Pawashe, Mayur; McGillivray, Patrick; Jin, Mike; Liu, Jeremy; Karczewski, Konrad J.; MacArthur, Daniel G.; Gerstein, Mark (2017-08-29). "Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes". Nature Communications. 8 (1): 382. Bibcode:2017NatCo...8..382B. doi:10.1038/s41467-017-00443-5. PMC 5575292. PMID 28851873.
Clark, David P.; Pazdernik, Nanette J.; McGehee, Michelle R. (2019), "Mutations and Repair", Molecular Biology, Elsevier, pp. 832–879, doi:10.1016/b978-0-12-813288-3.00026-4, ISBN 9780128132883, S2CID 239340633, retrieved 2022-12-02
Guimbellot, Jennifer; Sharma, Jyoti; Rowe, Steven M. (November 2017). "Toward inclusive therapy with CFTR modulators: Progress and challenges". Pediatric Pulmonology. 52 (Suppl 48): S4 – S14. doi:10.1002/ppul.23773. PMC 6208153. PMID 28881097.
Murgola, Emanuel J. (December 1985). "tRNA, SUPPRESSION, AND THE CODE". Annual Review of Genetics. 19 (1): 57–80. doi:10.1146/annurev.ge.19.120185.000421. ISSN 0066-4197. PMID 2417544.
Edgar B (October 2004). "The genome of bacteriophage T4: an archeological dig". Genetics. 168 (2): 575–582. doi:10.1093/genetics/168.2.575. PMC 1448817. PMID 15514035.
Mort, Matthew; Ivanov, Dobril; Cooper, David N.; Chuzhanova, Nadia A. (August 2008). "A meta-analysis of nonsense mutations causing human genetic disease". Human Mutation. 29 (8): 1037–47. doi:10.1002/humu.20763. PMID 18454449. S2CID 205918343.
Isken, Olaf; Maquat, Lynne E. (2007-08-01). "Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function". Genes & Development. 21 (15): 1833–56. doi:10.1101/gad.1566807. ISSN 0890-9369. PMID 17671086.
Khajavi, Mehrdad; Inoue, Ken; Lupski, James R. (October 2006). "Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease". European Journal of Human Genetics. 14 (10): 1074–81. doi:10.1038/sj.ejhg.5201649. ISSN 1476-5438. PMID 16757948. S2CID 3450423.
Shintani, M; Yagi, H; Nakayama, T; Saji, T; Matsuoka, R (2009-05-01). "A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension". Journal of Medical Genetics. 46 (5): 331–7. doi:10.1136/jmg.2008.062703. ISSN 0022-2593. PMID 19211612. S2CID 44932041.
Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Sulem, Patrick; Gudbjartsson, Daniel F.; Sigurdsson, Asgeir; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Oddsson, Asmundur; Helgason, Agnar; Magnusson, Olafur T.; Walters, G. Bragi; Frigge, Michael L.; Helgadottir, Hafdis T.; Johannsdottir, Hrefna; Bergsteinsdottir, Kristin (2013-05-23). "Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits". Nature. 497 (7450): 517–520. Bibcode:2013Natur.497..517S. doi:10.1038/nature12124. ISSN 0028-0836. PMID 23644456. S2CID 205233843.
Morais, Pedro; Adachi, Hironori; Yu, Yi-Tao (2020-06-20). "Suppression of Nonsense Mutations by New Emerging Technologies". International Journal of Molecular Sciences. 21 (12): 4394. doi:10.3390/ijms21124394. PMC 7352488. PMID 32575694.
Huang, Lulu; Aghajan, Mariam; Quesenberry, Tianna; Low, Audrey; Murray, Susan F.; Monia, Brett P.; Guo, Shuling (August 2019). "Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations". Nucleic Acid Therapeutics. 29 (4): 175–186. doi:10.1089/nat.2019.0779. PMC 6686700. PMID 31070517.
Lee, Choongil; Hyun Jo, Dong; Hwang, Gue-Ho; Yu, Jihyeon; Kim, Jin Hyoung; Park, Se-eun; Kim, Jin-Soo; Kim, Jeong Hun; Bae, Sangsu (2019-08-07). "CRISPR-Pass: Gene Rescue of Nonsense Mutations Using Adenine Base Editors". Molecular Therapy. 27 (8): 1364–71. doi:10.1016/j.ymthe.2019.05.013. PMC 6698196. PMID 31164261.
Welch, Ellen M.; Barton, Elisabeth R.; Zhuo, Jin; Tomizawa, Yuki; Friesen, Westley J.; Trifillis, Panayiota; Paushkin, Sergey; Patel, Meenal; Trotta, Christopher R.; Hwang, Seongwoo; Wilde, Richard G.; Karp, Gary; Takasugi, James; Chen, Guangming; Jones, Stephen (2007-05-03). "PTC124 targets genetic disorders caused by nonsense mutations". Nature. 447 (7140): 87–91. Bibcode:2007Natur.447...87W. doi:10.1038/nature05756. ISSN 1476-4687. PMID 17450125. S2CID 4423529.
Kerem, Eitan; Konstan, Michael W; De Boeck, Kris; Accurso, Frank J; Sermet-Gaudelus, Isabelle; Wilschanski, Michael; Elborn, J Stuart; Melotti, Paola; Bronsveld, Inez (2014-07-01). "Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial". The Lancet Respiratory Medicine. 2 (7): 539–547. doi:10.1016/S2213-2600(14)70100-6. PMC 4154311. PMID 24836205.
Konstan, M. W.; VanDevanter, D. R.; Rowe, S. M.; Wilschanski, M.; Kerem, E.; Sermet-Gaudelus, I.; DiMango, E.; Melotti, P.; McIntosh, J.; De Boeck, K.; ACT CF Study Group (July 2020). "Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)". Journal of Cystic Fibrosis. 19 (4): 595–601. doi:10.1016/j.jcf.2020.01.007. PMC 9167581. PMID 31983658.

dx.doi.org

Clark, David P.; Pazdernik, Nanette J.; McGehee, Michelle R. (2019), "Mutations and Repair", Molecular Biology, Elsevier, pp. 832–879, doi:10.1016/b978-0-12-813288-3.00026-4, ISBN 9780128132883, S2CID 239340633, retrieved 2022-12-02

harvard.edu

ui.adsabs.harvard.edu

Balasubramanian, Suganthi; Fu, Yao; Pawashe, Mayur; McGillivray, Patrick; Jin, Mike; Liu, Jeremy; Karczewski, Konrad J.; MacArthur, Daniel G.; Gerstein, Mark (2017-08-29). "Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes". Nature Communications. 8 (1): 382. Bibcode:2017NatCo...8..382B. doi:10.1038/s41467-017-00443-5. PMC 5575292. PMID 28851873.
Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Sulem, Patrick; Gudbjartsson, Daniel F.; Sigurdsson, Asgeir; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Oddsson, Asmundur; Helgason, Agnar; Magnusson, Olafur T.; Walters, G. Bragi; Frigge, Michael L.; Helgadottir, Hafdis T.; Johannsdottir, Hrefna; Bergsteinsdottir, Kristin (2013-05-23). "Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits". Nature. 497 (7450): 517–520. Bibcode:2013Natur.497..517S. doi:10.1038/nature12124. ISSN 0028-0836. PMID 23644456. S2CID 205233843.
Welch, Ellen M.; Barton, Elisabeth R.; Zhuo, Jin; Tomizawa, Yuki; Friesen, Westley J.; Trifillis, Panayiota; Paushkin, Sergey; Patel, Meenal; Trotta, Christopher R.; Hwang, Seongwoo; Wilde, Richard G.; Karp, Gary; Takasugi, James; Chen, Guangming; Jones, Stephen (2007-05-03). "PTC124 targets genetic disorders caused by nonsense mutations". Nature. 447 (7140): 87–91. Bibcode:2007Natur.447...87W. doi:10.1038/nature05756. ISSN 1476-4687. PMID 17450125. S2CID 4423529.

nature.com

Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Sulem, Patrick; Gudbjartsson, Daniel F.; Sigurdsson, Asgeir; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Oddsson, Asmundur; Helgason, Agnar; Magnusson, Olafur T.; Walters, G. Bragi; Frigge, Michael L.; Helgadottir, Hafdis T.; Johannsdottir, Hrefna; Bergsteinsdottir, Kristin (2013-05-23). "Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits". Nature. 497 (7450): 517–520. Bibcode:2013Natur.497..517S. doi:10.1038/nature12124. ISSN 0028-0836. PMID 23644456. S2CID 205233843.

nih.gov

pubmed.ncbi.nlm.nih.gov

Sharma, Jyoti; Keeling, Kim M.; Rowe, Steven M. (2020-08-15). "Pharmacological approaches for targeting cystic fibrosis nonsense mutations". European Journal of Medicinal Chemistry. 200: 112436. doi:10.1016/j.ejmech.2020.112436. PMC 7384597. PMID 32512483.
Potapova, Nadezhda A. (2022-05-01). "Nonsense Mutations in Eukaryotes". Biochemistry (Moscow). 87 (5): 400–412. doi:10.1134/S0006297922050029. ISSN 1608-3040. PMID 35790376. S2CID 248793651.
Balasubramanian, Suganthi; Fu, Yao; Pawashe, Mayur; McGillivray, Patrick; Jin, Mike; Liu, Jeremy; Karczewski, Konrad J.; MacArthur, Daniel G.; Gerstein, Mark (2017-08-29). "Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes". Nature Communications. 8 (1): 382. Bibcode:2017NatCo...8..382B. doi:10.1038/s41467-017-00443-5. PMC 5575292. PMID 28851873.
Guimbellot, Jennifer; Sharma, Jyoti; Rowe, Steven M. (November 2017). "Toward inclusive therapy with CFTR modulators: Progress and challenges". Pediatric Pulmonology. 52 (Suppl 48): S4 – S14. doi:10.1002/ppul.23773. PMC 6208153. PMID 28881097.
Murgola, Emanuel J. (December 1985). "tRNA, SUPPRESSION, AND THE CODE". Annual Review of Genetics. 19 (1): 57–80. doi:10.1146/annurev.ge.19.120185.000421. ISSN 0066-4197. PMID 2417544.
Edgar B (October 2004). "The genome of bacteriophage T4: an archeological dig". Genetics. 168 (2): 575–582. doi:10.1093/genetics/168.2.575. PMC 1448817. PMID 15514035.
Mort, Matthew; Ivanov, Dobril; Cooper, David N.; Chuzhanova, Nadia A. (August 2008). "A meta-analysis of nonsense mutations causing human genetic disease". Human Mutation. 29 (8): 1037–47. doi:10.1002/humu.20763. PMID 18454449. S2CID 205918343.
Isken, Olaf; Maquat, Lynne E. (2007-08-01). "Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function". Genes & Development. 21 (15): 1833–56. doi:10.1101/gad.1566807. ISSN 0890-9369. PMID 17671086.
Khajavi, Mehrdad; Inoue, Ken; Lupski, James R. (October 2006). "Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease". European Journal of Human Genetics. 14 (10): 1074–81. doi:10.1038/sj.ejhg.5201649. ISSN 1476-5438. PMID 16757948. S2CID 3450423.
Shintani, M; Yagi, H; Nakayama, T; Saji, T; Matsuoka, R (2009-05-01). "A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension". Journal of Medical Genetics. 46 (5): 331–7. doi:10.1136/jmg.2008.062703. ISSN 0022-2593. PMID 19211612. S2CID 44932041.
Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Sulem, Patrick; Gudbjartsson, Daniel F.; Sigurdsson, Asgeir; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Oddsson, Asmundur; Helgason, Agnar; Magnusson, Olafur T.; Walters, G. Bragi; Frigge, Michael L.; Helgadottir, Hafdis T.; Johannsdottir, Hrefna; Bergsteinsdottir, Kristin (2013-05-23). "Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits". Nature. 497 (7450): 517–520. Bibcode:2013Natur.497..517S. doi:10.1038/nature12124. ISSN 0028-0836. PMID 23644456. S2CID 205233843.
Morais, Pedro; Adachi, Hironori; Yu, Yi-Tao (2020-06-20). "Suppression of Nonsense Mutations by New Emerging Technologies". International Journal of Molecular Sciences. 21 (12): 4394. doi:10.3390/ijms21124394. PMC 7352488. PMID 32575694.
Huang, Lulu; Aghajan, Mariam; Quesenberry, Tianna; Low, Audrey; Murray, Susan F.; Monia, Brett P.; Guo, Shuling (August 2019). "Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations". Nucleic Acid Therapeutics. 29 (4): 175–186. doi:10.1089/nat.2019.0779. PMC 6686700. PMID 31070517.
Lee, Choongil; Hyun Jo, Dong; Hwang, Gue-Ho; Yu, Jihyeon; Kim, Jin Hyoung; Park, Se-eun; Kim, Jin-Soo; Kim, Jeong Hun; Bae, Sangsu (2019-08-07). "CRISPR-Pass: Gene Rescue of Nonsense Mutations Using Adenine Base Editors". Molecular Therapy. 27 (8): 1364–71. doi:10.1016/j.ymthe.2019.05.013. PMC 6698196. PMID 31164261.
Welch, Ellen M.; Barton, Elisabeth R.; Zhuo, Jin; Tomizawa, Yuki; Friesen, Westley J.; Trifillis, Panayiota; Paushkin, Sergey; Patel, Meenal; Trotta, Christopher R.; Hwang, Seongwoo; Wilde, Richard G.; Karp, Gary; Takasugi, James; Chen, Guangming; Jones, Stephen (2007-05-03). "PTC124 targets genetic disorders caused by nonsense mutations". Nature. 447 (7140): 87–91. Bibcode:2007Natur.447...87W. doi:10.1038/nature05756. ISSN 1476-4687. PMID 17450125. S2CID 4423529.
Kerem, Eitan; Konstan, Michael W; De Boeck, Kris; Accurso, Frank J; Sermet-Gaudelus, Isabelle; Wilschanski, Michael; Elborn, J Stuart; Melotti, Paola; Bronsveld, Inez (2014-07-01). "Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial". The Lancet Respiratory Medicine. 2 (7): 539–547. doi:10.1016/S2213-2600(14)70100-6. PMC 4154311. PMID 24836205.
Konstan, M. W.; VanDevanter, D. R.; Rowe, S. M.; Wilschanski, M.; Kerem, E.; Sermet-Gaudelus, I.; DiMango, E.; Melotti, P.; McIntosh, J.; De Boeck, K.; ACT CF Study Group (July 2020). "Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)". Journal of Cystic Fibrosis. 19 (4): 595–601. doi:10.1016/j.jcf.2020.01.007. PMC 9167581. PMID 31983658.

ncbi.nlm.nih.gov

Sharma, Jyoti; Keeling, Kim M.; Rowe, Steven M. (2020-08-15). "Pharmacological approaches for targeting cystic fibrosis nonsense mutations". European Journal of Medicinal Chemistry. 200: 112436. doi:10.1016/j.ejmech.2020.112436. PMC 7384597. PMID 32512483.
Balasubramanian, Suganthi; Fu, Yao; Pawashe, Mayur; McGillivray, Patrick; Jin, Mike; Liu, Jeremy; Karczewski, Konrad J.; MacArthur, Daniel G.; Gerstein, Mark (2017-08-29). "Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes". Nature Communications. 8 (1): 382. Bibcode:2017NatCo...8..382B. doi:10.1038/s41467-017-00443-5. PMC 5575292. PMID 28851873.
Guimbellot, Jennifer; Sharma, Jyoti; Rowe, Steven M. (November 2017). "Toward inclusive therapy with CFTR modulators: Progress and challenges". Pediatric Pulmonology. 52 (Suppl 48): S4 – S14. doi:10.1002/ppul.23773. PMC 6208153. PMID 28881097.
Edgar B (October 2004). "The genome of bacteriophage T4: an archeological dig". Genetics. 168 (2): 575–582. doi:10.1093/genetics/168.2.575. PMC 1448817. PMID 15514035.
Keeling, Kim M.; Du, Ming; Bedwell, David M. (2013). Therapies of Nonsense-Associated Diseases. Madame Curie Bioscience Database [Internet]. Landes Bioscience. NBK6183.
Morais, Pedro; Adachi, Hironori; Yu, Yi-Tao (2020-06-20). "Suppression of Nonsense Mutations by New Emerging Technologies". International Journal of Molecular Sciences. 21 (12): 4394. doi:10.3390/ijms21124394. PMC 7352488. PMID 32575694.
Huang, Lulu; Aghajan, Mariam; Quesenberry, Tianna; Low, Audrey; Murray, Susan F.; Monia, Brett P.; Guo, Shuling (August 2019). "Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations". Nucleic Acid Therapeutics. 29 (4): 175–186. doi:10.1089/nat.2019.0779. PMC 6686700. PMID 31070517.
Lee, Choongil; Hyun Jo, Dong; Hwang, Gue-Ho; Yu, Jihyeon; Kim, Jin Hyoung; Park, Se-eun; Kim, Jin-Soo; Kim, Jeong Hun; Bae, Sangsu (2019-08-07). "CRISPR-Pass: Gene Rescue of Nonsense Mutations Using Adenine Base Editors". Molecular Therapy. 27 (8): 1364–71. doi:10.1016/j.ymthe.2019.05.013. PMC 6698196. PMID 31164261.
Kerem, Eitan; Konstan, Michael W; De Boeck, Kris; Accurso, Frank J; Sermet-Gaudelus, Isabelle; Wilschanski, Michael; Elborn, J Stuart; Melotti, Paola; Bronsveld, Inez (2014-07-01). "Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial". The Lancet Respiratory Medicine. 2 (7): 539–547. doi:10.1016/S2213-2600(14)70100-6. PMC 4154311. PMID 24836205.
Konstan, M. W.; VanDevanter, D. R.; Rowe, S. M.; Wilschanski, M.; Kerem, E.; Sermet-Gaudelus, I.; DiMango, E.; Melotti, P.; McIntosh, J.; De Boeck, K.; ACT CF Study Group (July 2020). "Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)". Journal of Cystic Fibrosis. 19 (4): 595–601. doi:10.1016/j.jcf.2020.01.007. PMC 9167581. PMID 31983658.

pharmaceutical-technology.com

"ANVISA approves PTC Translarna indication expansion to ambulatory children". Pharmaceutical Technology. 2021-10-26. Retrieved 2022-12-01.

ptcbio.com

"PTC Therapeutics". PTC Therapeutics | Measured by Moments. Retrieved 2022-12-01.

sciencedirect.com

Benhabiles, Hana; Jia, Jieshuang; Lejeune, Fabrice (2016-01-01), Benhabiles, Hana; Jia, Jieshuang; Lejeune, Fabrice (eds.), "Ch. 2. Pathologies Susceptible to be Targeted for Nonsense Mutation Therapies", Nonsense Mutation Correction in Human Diseases, Boston: Academic Press, pp. 77–105, ISBN 978-0-12-804468-1, retrieved 2022-12-02

semanticscholar.org

api.semanticscholar.org

Potapova, Nadezhda A. (2022-05-01). "Nonsense Mutations in Eukaryotes". Biochemistry (Moscow). 87 (5): 400–412. doi:10.1134/S0006297922050029. ISSN 1608-3040. PMID 35790376. S2CID 248793651.
Clark, David P.; Pazdernik, Nanette J.; McGehee, Michelle R. (2019), "Mutations and Repair", Molecular Biology, Elsevier, pp. 832–879, doi:10.1016/b978-0-12-813288-3.00026-4, ISBN 9780128132883, S2CID 239340633, retrieved 2022-12-02
Mort, Matthew; Ivanov, Dobril; Cooper, David N.; Chuzhanova, Nadia A. (August 2008). "A meta-analysis of nonsense mutations causing human genetic disease". Human Mutation. 29 (8): 1037–47. doi:10.1002/humu.20763. PMID 18454449. S2CID 205918343.
Khajavi, Mehrdad; Inoue, Ken; Lupski, James R. (October 2006). "Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease". European Journal of Human Genetics. 14 (10): 1074–81. doi:10.1038/sj.ejhg.5201649. ISSN 1476-5438. PMID 16757948. S2CID 3450423.
Shintani, M; Yagi, H; Nakayama, T; Saji, T; Matsuoka, R (2009-05-01). "A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension". Journal of Medical Genetics. 46 (5): 331–7. doi:10.1136/jmg.2008.062703. ISSN 0022-2593. PMID 19211612. S2CID 44932041.
Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Sulem, Patrick; Gudbjartsson, Daniel F.; Sigurdsson, Asgeir; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Oddsson, Asmundur; Helgason, Agnar; Magnusson, Olafur T.; Walters, G. Bragi; Frigge, Michael L.; Helgadottir, Hafdis T.; Johannsdottir, Hrefna; Bergsteinsdottir, Kristin (2013-05-23). "Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits". Nature. 497 (7450): 517–520. Bibcode:2013Natur.497..517S. doi:10.1038/nature12124. ISSN 0028-0836. PMID 23644456. S2CID 205233843.
Welch, Ellen M.; Barton, Elisabeth R.; Zhuo, Jin; Tomizawa, Yuki; Friesen, Westley J.; Trifillis, Panayiota; Paushkin, Sergey; Patel, Meenal; Trotta, Christopher R.; Hwang, Seongwoo; Wilde, Richard G.; Karp, Gary; Takasugi, James; Chen, Guangming; Jones, Stephen (2007-05-03). "PTC124 targets genetic disorders caused by nonsense mutations". Nature. 447 (7140): 87–91. Bibcode:2007Natur.447...87W. doi:10.1038/nature05756. ISSN 1476-4687. PMID 17450125. S2CID 4423529.

wikimedia.org

commons.wikimedia.org

References for the image are found in Wikimedia Commons page at: Commons:File:Notable mutations.svg#References.

wiley.com

onlinelibrary.wiley.com

Mort, Matthew; Ivanov, Dobril; Cooper, David N.; Chuzhanova, Nadia A. (August 2008). "A meta-analysis of nonsense mutations causing human genetic disease". Human Mutation. 29 (8): 1037–47. doi:10.1002/humu.20763. PMID 18454449. S2CID 205918343.

worldcat.org

search.worldcat.org

Potapova, Nadezhda A. (2022-05-01). "Nonsense Mutations in Eukaryotes". Biochemistry (Moscow). 87 (5): 400–412. doi:10.1134/S0006297922050029. ISSN 1608-3040. PMID 35790376. S2CID 248793651.
Murgola, Emanuel J. (December 1985). "tRNA, SUPPRESSION, AND THE CODE". Annual Review of Genetics. 19 (1): 57–80. doi:10.1146/annurev.ge.19.120185.000421. ISSN 0066-4197. PMID 2417544.
Isken, Olaf; Maquat, Lynne E. (2007-08-01). "Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function". Genes & Development. 21 (15): 1833–56. doi:10.1101/gad.1566807. ISSN 0890-9369. PMID 17671086.
Khajavi, Mehrdad; Inoue, Ken; Lupski, James R. (October 2006). "Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease". European Journal of Human Genetics. 14 (10): 1074–81. doi:10.1038/sj.ejhg.5201649. ISSN 1476-5438. PMID 16757948. S2CID 3450423.
Shintani, M; Yagi, H; Nakayama, T; Saji, T; Matsuoka, R (2009-05-01). "A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension". Journal of Medical Genetics. 46 (5): 331–7. doi:10.1136/jmg.2008.062703. ISSN 0022-2593. PMID 19211612. S2CID 44932041.
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