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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1970 5
1971 1
1972 1
1973 2
1974 2
1975 6
1976 4
1977 2
1978 4
1979 4
1980 7
1981 5
1982 7
1983 10
1984 11
1985 11
1986 22
1987 17
1988 23
1989 38
1990 69
1991 126
1992 136
1993 200
1994 201
1995 224
1996 239
1997 279
1998 310
1999 307
2000 379
2001 329
2002 287
2003 320
2004 299
2005 331
2006 357
2007 292
2008 341
2009 325
2010 356
2011 363
2012 327
2013 406
2014 373
2015 425
2016 462
2017 468
2018 486
2019 507
2020 536
2021 446
2022 351
2023 344
2024 144

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10,536 results

Results by year

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Page 1
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families.
Amirian A, Zafari Z, Karimipoor M, Kordafshari A, Dalili M, Saber S, Farjam Fazelifar A, Zeinali S. Amirian A, et al. Iran Biomed J. 2019 May;23(3):228-34. doi: 10.29252/.23.3.228. Epub 2019 Feb 24. Iran Biomed J. 2019. PMID: 30797226 Free PMC article. Review.
In silico examinations were performed for predicting the pathogenicity of the novel variant. RESULTS: A novel homozygous KCNQ1 frameshift mutation, c.1426_1429delATGC (M476Pfs*4), was identified, and then the current literatures of five patients were reviewed regard …
In silico examinations were performed for predicting the pathogenicity of the novel variant. RESULTS: A novel homozygous KCNQ1 frameshift …
A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia.
Huang F, Zeng J, Liu D, Zhang J, Liang B, Gao J, Yan R, Shi X, Chen J, Song W, Huang HL. Huang F, et al. Front Endocrinol (Lausanne). 2023 Jun 22;14:1122004. doi: 10.3389/fendo.2023.1122004. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37424858 Free PMC article.
Quantitative real-time PCR (qRT-PCR) analysis and immunofluorescence (IF) analysis were used to assess the expression of the mutant messenger RNA (mRNA) and protein. RESULTS: A novel homozygous frameshift mutation (c.2823dupT, p.Val942Cysfs*21) in DNAH6 was identifi …
Quantitative real-time PCR (qRT-PCR) analysis and immunofluorescence (IF) analysis were used to assess the expression of the mutant messenge …
Frameshift mutation: determinants of specificity.
Ripley LS. Ripley LS. Annu Rev Genet. 1990;24:189-213. doi: 10.1146/annurev.ge.24.120190.001201. Annu Rev Genet. 1990. PMID: 2088167 Review. No abstract available.
Functional Innovation through Gene Duplication Followed by Frameshift Mutation.
Guo B, Zou M, Sakamoto T, Innan H. Guo B, et al. Genes (Basel). 2022 Jan 21;13(2):190. doi: 10.3390/genes13020190. Genes (Basel). 2022. PMID: 35205235 Free PMC article.
In his influential book "Evolution by Gene Duplication", Ohno postulated that frameshift mutation could lead to a new function after duplication, but frameshift mutation is generally thought to be deleterious, and thus drew little attention in function …
In his influential book "Evolution by Gene Duplication", Ohno postulated that frameshift mutation could lead to a new function …
A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss.
Liang J, Yu Z, Wang Z, Chen J, Liu Y, Yin Z, Xu R. Liang J, et al. Front Pediatr. 2022 Dec 9;10:1032659. doi: 10.3389/fped.2022.1032659. eCollection 2022. Front Pediatr. 2022. PMID: 36568422 Free PMC article.
RESULTS: We identified a novel homozygous deletion (c.51delA) in exon 2 of the type II transmembrane serine protease 3 gene TMPRSS3, which resulted in a frameshift mutation just before the protein transmembrane domain (p.Q17fs). ...T555A: p.H185Q), and ZNF276, which …
RESULTS: We identified a novel homozygous deletion (c.51delA) in exon 2 of the type II transmembrane serine protease 3 gene TMPRSS3, which r …
10,536 results
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