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6 Hits
Search Condition : Filter (MeSH = Gain of Function Mutation*)
Species
Resource
RRC ID
Title
Journal
Published
Link
Altmetric score
Drosophila
DGRC#115336
70797
Short and long sleeping mutants reveal links between sleep and macroautophagy.
Elife
2021-6-4
Pubmed
Full text
Drosophila
DGRC#108284
70782
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hum Genet
2022-2-1
Pubmed
Full text
Human and Animal Cells
CW-2(RCB0778)
67347
Co-occurring gain-of-function mutations in HER2 and HER3 modulate HER2/HER3 activation, oncogenesis, and HER2 inhibitor sensitivity.
Cancer Cell
2021-8-9
Pubmed
Full text
Human and Animal Cells
293(RCB1637)
,
293T(RCB2202)
66849
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
J Clin Invest
2021-2-15
Pubmed
Full text
Human and Animal Cells
HCT116(RCB2979)
63230
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
PLoS One
2020-1-1
Pubmed
Full text
Drosophila
61046
Microtubule affinity-regulating kinase 4 with an Alzheimer's disease-related mutation promotes tau accumulation and exacerbates neurodegeneration.
J Biol Chem
2020-12-11
Pubmed
Full text