gain-of-function mutation


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Related to gain-of-function mutation: back mutation, genetic mutation, gene mutation, conditional mutant

gain-of-function mutation

Genetics Any mutation that results in a new activity–eg, activation of a proto-oncogene, Cf Loss-of-function mutation.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

gain-of-function mutation

A change in DNA that results in the synthesis of a protein with a new or different function. Gain-of-function mutations are typically dominant.
See also: mutation
Medical Dictionary, © 2009 Farlex and Partners
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It is also possible to find subjects with gain-of-function mutations in seipinopathies, a dominant condition that needs at least one mutated allele to manifest the phenotypical condition (Figures 7(d) and 7(e)).
Exploring Seipin: From Biochemistry to Bioinformatics Predictions
Kiykim et al., "Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1," Journal of Clinical Immunology, vol.
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
The clinical observations and genetic tests further revealed that the gain-of-function mutations of EAG1 channels are closely associated with two rare neuronal developmental diseases Zimmermann-Laband and Temple-Baraitser syndromes (ZLS and TBS) [21-24].
Eag1 [K.sup.+] Channel: Endogenous Regulation and Functions in Nervous System
These facts suggested that ASXL1 mutations are dominant-negative or gain-of-function mutations. (85) Consistent with this, we have shown that bone marrow cells transduced with the C-terminal truncated ASXL1 mutant (ASXL1-MT) induced MDS-like symptoms in the transplanted mice (Fig.
The molecular basis of myeloid malignancies
It is well established that dysregulation of the alternative complement pathway is involved in 60-70% of all cases with loss-of-function mutations in complement regulators such as factor H, factor I, and membrane cofactor protein (MCP/CD46), or gain-of-function mutations in C3 or factor B [2].
Clinical and Complement Long-Term Follow-Up of a Pediatric Patient with C3 Mutation-Related Atypical Hemolytic Uremic Syndrome
Jin et al., "Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation," American Journal of Human Genetics, vol.
Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population
* The defect in type 2B VWD involves a gain-of-function mutation in VWF; in PT-VWD, there is a gain-of-function mutation in the GP1b platelet receptor.
Elderly female with a personal and family history of a bleeding disorder
In the report cited above, we described the discovery of a second prothrombotic gain-of-function mutation [the G20210A substitution in the F2 gene, coagulation factor II (thrombin)].
A novel genetic risk factor for venous thrombosis
Almost 75% of all GISTs present gain-of-function mutations in the KIT gene in exons 11, 9, 13, and 17, which activate downstream pathways (RAS/RAF/MAPK, JAK/STAT3, and PI3K/AKT/mTOR), increasing proliferation or evading apoptosis.
A rare case of Wild-Type GIST of descending colon with GANT characteristics
XEN901 is a potent, highly selective Nav1.6 sodium channel inhibitor being developed by Xenon for the treatment of epilepsy including treatment resistant adult and pediatric focal seizures, as well as rare, pediatric forms of epilepsy, such as EIEE13, an early infantile epileptic encephalopathy due to gain-of-function mutations in the SCN8A gene that encodes the Nav1.6 sodium channel.
Xenon Pharmaceuticals presented preclinical data from XEN901 clinical trial
The fact that all three independent mosaic trisomy 9 syndrome cases were accompanied by HPE supports the notion that HPE may be a symptom of this aneuploidy as well as the suggestion by other researchers that gain-of-function mutations of the PTCH1 gene may also cause HPE.
Holoprosencephaly: A Rare Finding in Mosaic Trisomy 9 Syndrome
The molecular pathogenesis of these tumors includes gain-of-function mutations in C-kit and PDGFRA, which are both tyrosine kinase receptors.
Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor

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