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- A gain-of-function mutation is a genetic lesion that causes the normal product of a gene to be expressed inappropriately (at abnormally high levels and/or at the wrong time or location), or to acquire a new abnormal function through alteration of the gene product itself.
www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/gai… Gain-of-Function Mutations: An Emerging Advantage for Cancer …
Elucidating the functional pathways altered by loss-of-function (LOF) or gain-of-function (GOF) mutations will be crucial for prioritizing cancer-causing variants and their resultant therapeutic liabilities.
Other content from pmc.ncbi.nlm.nih.govLoss-of-function, gain-of-function and dominant-negative …
Jul 6, 2022 · While there has been much focus on how mutations can disrupt protein structure and thus cause a loss of function (LOF), alternative mechanisms, specifically dominant-negative …
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Gain-of-function research - Wikipedia
Gain-of-function research (GoF research or GoFR) is medical research that genetically alters an organism in a way that may enhance the biological functions of gene products. This may include an altered pathogenesis, transmissibility, or host range, i.e., the types of hosts that a microorganism can infect. This research is intended to reveal targets to better predict emerging infectious diseases and to develop vaccines and therapeutics. For example, influenza B can infect only hum…
Wikipedia · Text under CC-BY-SA license- Estimated Reading Time: 11 mins
Gain-of-Function Mutation - an overview | ScienceDirect Topics
Gain-of-function mutations alter the function of a protein to give enhanced/increased or new function, (e.g., by overactivity or ectopic expression). Dominant loss-of-function mutations can …
Gain of Function Mutation - an overview | ScienceDirect Topics
Gain-of-function mutations, also called “activating mutations,” change the gene product such that its effect gets stronger (enhanced activation) or even is superseded by a different and …
Gain of Function Mutation - an overview | ScienceDirect Topics
A gain-of-function mutation is a genetic lesion that causes the normal product of a gene to be expressed inappropriately (at abnormally high levels and/or at the wrong time or location), or …
Gain-of-function Mutations in Human Genetic Disorders
Jan 27, 2006 · Gain-of-function (activating) mutations alter the amino acid sequence of gene protein products, generating proteins that have increased constitutive activity even in the …
Cancer-Associated Gain-of-Function Mutations Activate a …
Here, we show that cancer-associated missense mutations in BRG1, when placed into the orthologous Sth1 ATPase of the yeast RSC remodeler, separate into two categories: loss-of …
Gain-of-function mutations that are beneficial, such as LPL-S447X, are interesting in that they provide insights into the struc-ture–function properties of a protein and can also have …
Gain- and Loss-of-Function Mutations in the Breast Cancer Gene
Sep 2, 2016 · We identify two functional classes of frameshift mutations that are associated with distinct expression profiles in tumours, differential disease-free patient survival and gain- and …
Clinical Relevance of Gain- and Loss-of-Function …
Data pertaining to patients with a genetic diagnosis of STAT1 GOF or LOF germline mutations, along with detailed clinical data, were reviewed. Results: The search identified 108 publications describing 442 unique patients with STAT1 …
Glossary:Gain-of-function Mutation - The Jackson Laboratory
Dec 10, 2024 · A type of mutation in which the altered gene product possesses a new molecular function or a new pattern of gene expression. Gain-of-function mutations are almost always …
Gain-of-Function Mutations: An Emerging Advantage for Cancer …
Elucidating the functional pathways altered by loss-of-function (LOF) or gain-of-function (GOF) mutations will be crucial for prioritizing cancer-causing variants and their resultant therapeutic …
Predicting gain-of-function mutations linked to disease
Oct 4, 2018 · A novel analytical tool allows researchers to make predictions about which genetic mutations are most likely playing a role in disease by gain-of-function.
gain-of-function mutation / gain of function mutation - Nature
Produces a new trait or causes a trait to appear in inappropriate tissues or at inappropriate times in development.
Gain-of-function ANXA11 mutation cause late-onset ALS with …
22 hours ago · A gain-of-function mechanism has been proposed for ANXA11 mutations, as ANXA11 expression remains unaltered alongside the observed pathological findings in patients …
Gain-of-Function Mutations: An Emerging Advantage for Cancer …
Aug 1, 2019 · Gain-of-function (GOF) mutations type of genetic variant in which altered genes or noncoding RNAs possess a new molecular function or a new pattern of expression.
Gain of Function Mutation - an overview | ScienceDirect Topics
Gain-of-Function STAT1 Mutations Definition. Gain-of-function (GOF) heterozygous STAT1 mutations are the most common cause of CMCD, which is inherited as an AD trait. Mutations …
A NOTCH3 pathogenic variant influences osteogenesis and can …
1 day ago · As such, ASOs are of potential value in conditions where a gain-of-function exists since gene downregulation could correct the functional outcome. Previously, we demonstrated …
How gain-of-function research could aid scientists in H5N1 bird flu ...
Dec 24, 2024 · Other gain-of-function experiments conducted on H5N1 years ago have tipped off scientists about potential mutations that could help the real-world virus spread more easily …
Loss-of-function, gain-of-function and dominant-negative …
Jul 6, 2022 · While there has been much focus on how mutations can disrupt protein structure and thus cause a loss of function (LOF), alternative mechanisms, specifically dominant-negative …
Gain of Function Mutation - an overview | ScienceDirect Topics
A gain-of-function mutation refers to a genetic change that leads to the abnormal expression or acquisition of a new function by the product of a gene. This mutation can cause the gene to be …
Generic residue numbering of the GAIN domain of adhesion GPCRs
2 days ago · This buried motif is located in the direct vicinity of the GPS cleavage site (Fig. 5d–e and Supplementary Fig. 1), with mutations known to affect GAIN domain autoproteolysis and …
Gain-of-Function Mutations: An Emerging Advantage for Cancer …
Aug 1, 2019 · Elucidating the functional pathways altered by loss-of-function (LOF) or gain-of-function (GOF) mutations will be crucial for prioritizing cancer-causing variants and their …
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