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gain of function mutation


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'gain of function mutation' can also refer to...

gain of function mutation

gain-of-function mutation

gain-of-function mutation

Mutation of SOD1 in ALS: a gain of a loss of function

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology

Complement hyperactivation may cause atypical haemolytic uraemic syndrome— gain-of-function mutations in factor B*

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

A case of Behçet's disease associated with myelodysplastic syndrome involving trisomy 8 and a gain-of-function mutation in SHP-2

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

 

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Quick Reference

A genetic lesion that causes a gene to be overexpressed or expressed at the wrong time. Such mutations often affect upstream elements that control the time in the life cycle when a gene is turned on or the specific tissue in which it is expressed. Gain of function mutations are often dominant. Contrast with loss of function mutations.

Subjects: Medicine and Health — Genetics and Genomics.


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