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*  Translational frameshift
The main distinction between frameshifts resulting from mutation and those resulting from ribosomal frameshifting is that the ... In the case of a translating ribosome, a frameshift can result in nonsense being created after the frameshift or a completely ... Coronavirus frameshifting stimulation element DnaX ribosomal frameshifting element Frameshift mutation HIV ribosomal frameshift ... allowing gaps and frameshifts Path - tool that compares two frameshift proteins (back-translation principle) Recode2 - Database ...
*  Frameshift mutation
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions ... Frameshift mutations can occur randomly or be caused by an external stimulus. The detection of frameshift mutations can occur ... The flanking DNA can also contribute to frameshift mutations. In prostate cancer a frameshift mutation changes the open reading ... mutations do occur; frameshift mutation is not the only type. There are at least two other types of recognized point mutations ...
*  NAA15
Patient 1 harbors a frameshift mutation (p. Lys335fs) and displays heterotaxy (dextrocardia, total anomalous pulmonary venous ... Recently, two damaging de novo NAA15 mutations were reported by exome sequencing in parent-offspring trios with congenital ... "De novo mutations in histone-modifying genes in congenital heart disease". Nature. 498 (7453): 220-3. doi:10.1038/nature12141. ... the second patient harbors a nonsense mutation (p.S761X) and displays conotruncal defects (tetralogy of Fallot, single left ...
*  Gap penalty
However, not all indels are frameshift mutations. If indels occur in trinucleotides, the result is an extension of the protein ... or a frameshift mutation that may render the protein inactive. The biological consequences of indels are often deleterious and ... Considering multiple gaps in a sequence as a larger single gap will reduce the assignment of a high cost to the mutations. For ... Therefore, in order to make more accurate decisions in aligning reads, mutations are annotated as gaps in the sequence. Gaps ...
*  Leslie Barnett
experiment of 1961, which discovered frameshift mutations; this insight provided early elucidation of the nature of the genetic ... "Distribution of proflavin-induced mutations in the genetic fine structure", Nature 182: 983-5. Brenner, S. and Barnett, L. 1959 ...
*  Sydney Brenner
experiment of 1961, which discovered frameshift mutations. This insight provided early elucidation of the nature of the genetic ...
*  ALMS1
Multiple mutations are known: the current (2007) total is 79. These include both nonsense and frameshift mutations. Most of the ... Mutations in the ALMS1 gene have been found to be causative for Alström syndrome with a total of 81 disease-causing mutations. ... Mutations associated with disease are usually found in exons 8, 10 and 16. The gene is expressed in fetal tissues including the ... mutations have been found in exons 8,10 and 16. The Jackson Laboratory in Bar Harbor, Maine, USA with the University of ...
*  Haplotype convergence
Cairns, J.; Foster, P. L. (August 1991). "Adaptive Reversion of a Frameshift Mutation in Escherichia Coli". Genetics. 128 (4): ... Substitution bias further increases the likelihood of haplotype convergence, as this increases the probability of mutations ...
*  Kohlschütter-Tönz syndrome
All RODGI mutations which include frameshift, nonsense, and splice site mutations cause premature mRNA degradation or protein ... One family had a frameshift mutation called c.366dupA. This duplication that caused the frameshift resulted in a premature stop ... A mutation called c.507delC which is the deletion of a cytosine at position 507 resulted in a nonsense mutation. A nonsense ... mutation is a point mutation that results in a premature stop codon. Five affected families contained the nonsense mutation ...
*  Endothelin 3
1996). "Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome". Nat. Genet. 13 (4): 395-6. doi: ... Hofstra RM, Osinga J, Buys CH (1998). "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype". ... Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are ... 1996). "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype ...
*  Crohn's disease
The first mutation found to be associated with Crohn's was a frameshift in the NOD2 gene (also known as the CARD15 gene), ... "A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease". Nature. 411 (6837): 603-6. doi:10.1038/ ... Each individual risk mutation makes a small contribution to the overall risk of Crohn's (approximately 1:200). The genetic data ... For example, one association is with mutations in the XBP1 gene, which is involved in the unfolded protein response pathway of ...
*  Melanocortin 4 receptor
"Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly ... Vaisse C, Clement K, Guy-Grand B, Froguel P (October 1998). "A frameshift mutation in human MC4R is associated with a dominant ... Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S (October 1998). "A frameshift mutation in MC4R associated ... In 2008, MC4R mutations were reported to be associated with inherited human obesity. They were found in heterozygotes, ...
*  CD133
"Cone-rod dystrophy and a frameshift mutation in the PROM1 gene". Mol. Vis. 15: 1709-16. PMC 2732717 . PMID 19718270. Rutella S ...
*  RP2 (gene)
Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ (2000). "Novel frameshift mutations ... RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15 ... Wada Y, Nakazawa M, Abe T, Tamai M (2000). "A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked ... Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S (2000). "Mutations in ...
*  Neurofibromatosis type II
Patients with frameshift mutations or nonsense mutations suffer poor prognosis. Patients with missense mutations have a better ... In cases with mutations in the splice-acceptor-region, there is no good correlation to determine. Point mutations may have only ... Mutations of NF II is presumed to result in either a failure to synthesize Merlin or the production of a defective peptide that ... Mutations in the Schwannomin-gene are thought to alter the movement and shape of affected cells with loss of contact inhibition ...
*  CRX (gene)
"Novel frameshift mutations in CRX associated with Leber congenital amaurosis". Human Mutation. 18 (6): 550-1. doi:10.1002/humu. ... Chen S, Wang QL, Xu S, Liu I, Li LY, Wang Y, Zack DJ (Apr 2002). "Functional analysis of cone-rod homeobox (CRX) mutations ... Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal ... Nakamura M, Ito S, Miyake Y (Sep 2002). "Novel de novo mutation in CRX gene in a Japanese patient with leber congenital ...
*  Kathie L. Olsen
Charest, N. J.; Zhou, Z. X.; Lubahn, D. B.; Olsen, K. L.; Wilson, E. M.; French, F. S. (1991). "A frameshift mutation ... "A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat". The ...
*  LRSAM1
"A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy". Hum. Mol. Genet. 21 (2): 358-70. doi: ... Mutations in LRSAM1 have been reported in the peripheral neuropathy Charcot-Marie-Tooth type 2P (OMIM 614436), while disruption ... "Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease". PLoS Genet. 6 (8). doi: ... "A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease". Eur. J. Hum. Genet. 21 (2): ...
*  Crick, Brenner et al. experiment
were also able to correct their frameshift mutations through the use of proflavin. If they had a nonfunctional gene due to a ... The experiment also elucidated the nature of gene expression and frame-shift mutations. In the experiment, proflavin-induced ... Proflavin causes mutations by inserting itself between DNA bases, typically resulting in insertion or deletion of a single base ... mutants produced by Crick and Brenner that could not produce functional rIIB protein were the results of frameshift mutations, ...
*  PTCH2
"Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome". Familial Cancer. 12 (4): 611-4. doi: ... "A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation ...
*  TAF1B
"Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors". PLoS Biol. 5 (5): ...
*  PRDM2
Poetsch M, Dittberner T, Woenckhaus C (May 2002). "Frameshift mutations of RIZ, but no point mutations in RIZ1 exons in ... Pan KF, Lu YY, Liu WG, Zhang L, You WC (Sep 2004). "Detection of frameshift mutations of RIZ in gastric cancers with ... Kim KC, Geng L, Huang S (Nov 2003). "Inactivation of a histone methyltransferase by mutations in human cancers". Cancer ...
*  Variant surface glycoprotein
Some of these are full-length, intact genes; others are pseudogenes (typically with frameshift mutations, premature stop codons ...
*  Nuclear gene
2003 Aug;5(8):641-9. Frameshift Mutations and the Genetic Code Komar, Anton A. (2016-09-09). "The "periodic table" of the ... The mutation occurs when there is a deletion or insertion of base into the reading frame of the gene. Mutation can result in ... Mutations can occur when translating the messenger RNA into amino acid. The gene's frame is read three bases at a time called ... Frameshift Mutagenesis: The Roles of Primer-Template Misalignment and the Nonhomologous End-Joining Pathway in Saccharomyces ...
*  Sp7 transcription factor
"Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta". American Journal of ... Mutations of this gene are associated with Osteogenesis Imperfecta (OI), osteoporosis, and other bone diseases. Inactivation of ...
*  Thyroxine-binding globulin
1989). "A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of ... 1991). "Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in ... 1993). "Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its ... caused by a new nonsense mutation in the thyroxine-binding globulin gene". Thyroid. 8 (2): 161-5. doi:10.1089/thy.1998.8.161. ...
*  TCF7L2
A frameshift mutation of TCF7L2 provided evidence that TCF7L2 is implicated in colorectal cancer. The silencing of TCF7L2 in ...