FAQ

Frameshift Mutation function

Known as: Out-of-Frame Mutations, frame-shift mutation, Reading Frame Shift Mutation 
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby… (More)

Topic mentions per year

Topic mentions per year

1966-2018
010020030019662018

Related topics

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16 relations
CYP2C19*2 AlleleCYP2C19*3 AlleleCYP2C8*5 AlleleCYP2C9*6 Allele
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Broader (2)

Gene MutationMutation

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Frameshift Mutation function
physiological aspects
Gene Mutation
Mutation
CYP2C19*2 Allele
CYP2C19*3 Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Frequent mutation of BAP1 in metastasizing uveal melanomas.
Metastasis is a defining feature of malignant tumors and is the most common cause of cancer-related death, yet the genetics of… (More)
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Highly Cited
2009
Highly Cited
2009
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming
Loss-of-function mutations in the FLG (filaggrin) gene cause the semidominant keratinizing disorder ichthyosis vulgaris and… (More)
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Highly Cited
2001
Highly Cited
2001
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
Crohn's disease is a chronic inflammatory disorder of the gastrointestinal tract, which is thought to result from the effect of… (More)
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Highly Cited
2001
Highly Cited
2001
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
Scurfy (sf) is an X-linked recessive mouse mutant resulting in lethality in hemizygous males 16–25 days after birth, and is… (More)
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Highly Cited
1999
Highly Cited
1999
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have… (More)
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Highly Cited
1998
Highly Cited
1998
A frameshift mutation in MC4R associated with dominantly inherited human obesity
T he melanocortin-4 receptor (MC4R) is a G-protein coupled, seven-trans-membrane receptor which is highly expressed in the… (More)
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Highly Cited
1998
Highly Cited
1998
E-cadherin germline mutations in familial gastric cancer.
The identification of genes predisposing to familial cancer is an essential step towards understanding the molecular events… (More)
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Highly Cited
1997
Highly Cited
1997
Congenital leptin deficiency is associated with severe early-onset obesity in humans.
The extreme obesity of the obese (ob/ob) mouse is attributable to mutations in the gene encoding leptin, an adipocyte-specific… (More)
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Highly Cited
1997
Highly Cited
1997
Mutations in myostatin (GDF8) in double-muscled Belgian Blue and Piedmontese cattle.
A visibly distinct muscular hypertrophy (mh), commonly known as double muscling, occurs with high frequency in the Belgian Blue… (More)
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Highly Cited
1991
Highly Cited
1991
Adaptive reversion of a frameshift mutation in Escherichia coli.
Mutation rates are generally thought not to be influenced by selective forces. This doctrine rests on the results of certain… (More)
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