Loss-or gain-of-function mutation
Identification of genomic features in the classification of loss- and gain-of-function mutation
... In this work, we propose a comprehensive analysis of the genomic features in mutations to classify LoF and GoF mutations. Figure 1 shows an overview of our study. First, from the literature, 14,259 gene-sentence ...
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Characterization of a new mouse p53 variant: loss-of-function and gain-of-function
... a gain-of-function mutation, we stably expressed it in H1299 (p53 null) cell lines to examine p21 gene and protein expression using DNA-damaging drugs such as actinomycin D (Act D), 5-flurouracil ...
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Formation of Hirano Bodies Induced by Expression of an Actin Cross-Linking Protein with a Gain-of-Function Mutation
... Hirano bodies have been described in postmortem exami- nation of tissue from patients with a variety of neurodegenera- tive diseases and other conditions producing persistent injury or stress, including diabetes and ...
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An inducible mouse model for skin cancer reveals distinct roles for gain and loss of function p53 mutations
... exhibit gain-of-function ...p53 gain-of-function versus loss-of-function mutations is critical for the generation of effective therapies for tumors harboring p53 ...p53 ...
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Reciprocal Mouse and Human Limb Phenotypes Caused by Gain- and Loss-of-Function Mutations Affecting Lmbr1
... from gain-of-function mutations and not from ...a loss-of-function mutation in the mouse Lmbr1 gene that causes digit number reduction (oligodactyly) on its own and in trans to a ...
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In Vivo Analysis of a Gain-of-Function Mutation in the Drosophila eag-Encoded K+ Channel
... Sh mutation on behavior and neuronal ...eag loss-of-function mutations, we suggest that eag G297E causes an eag gain-of-function ...
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A gain of function mutation in IAA18 alters Arabidopsis embryonic apical patterning
... bdl mutation decreased PIN1 expression, and inhibited MP/ARF5 function when driven by the Q0990 GAL4- expressing line (Weijers et ...double loss-of-function mutants developed normally. ...
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A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
... Whole-exome sequencing was performed, and highly deleterious or damaging gene variations were identified by CADD and PolyPhen2 analysis and cross-referenced with the ExAC database and gno- mAD to determine the prevalence ...
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Med12 gain of function mutation causes leiomyomas and genomic instability
... Recurrent human MED12 exon 2 mutations have been asso- ciated with benign tumors such as uterine leiomyomas (7) and breast fibroadenomas (15); however, their etiology, genetic mech- anism of action, and role in genomic ...
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FGFR3 deficient mice have accelerated fracture repair
... contrast, loss-of-function mutation in FGFR3 leads to camptodactyly, tall stature, and hearing loss syndrome [10, ...Both loss-of-function and gain-of-function ...
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NALCN channelopathiesDistinguishing gain-of-function and loss-of-function mutations
... human mutation was indistinguishable from the very severe gain-of-function mutant ...no mutation was intro- ...V637F mutation display dramatically reduced locomotion (figure ...
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Gain-of-function IKBKB mutation causes human combined immune deficiency
... and therefore, there was minimal differentiation of memory or effector T cells. These individuals also exhibit a deficiency of T reg cells (Pannicke et al., 2013; Mousallem et al., 2014). Despite the divergence of ...
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Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia
... sion mutation to both sporadic and famil- ial ALS, there has been intense interest in deciphering the mechanisms by which GGGGCC repeat expansions cause neuro- degeneration ...a loss of C9orf72’s normal ...
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Long noncoding RNA NEAT1 promotes nasopharyngeal carcinoma progression through regulation of miR-124/NF-κB pathway
... cells. Loss-of-function revealed that NEAT1 knockdown inhibited proliferation and promoted apoptosis of NPC cells while gain-of-function revealed that upregulated NEAT1 showed an opposite ...
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Saturable and dispersive parity time symmetric directional coupler: a transmission line modelling study
... index (Fig. 3(a)) displays a similar trend as the one calculated by the analytical method but is slightly higher in value. This discrepancy can be explained by the presence of numerical dispersion. Fig. 3(b) shows a good ...
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Loss-of-function genetic diseases and the concept of pharmaceutical targets
... of loss-of-function (lof) genetic dis- eases are also well-suited to the concept of target-based drug ...cellular function resulting from the mutation may be pharmacologically corrected by ...
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Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors
... Hypercalciuria and the attendant risk of nephrocalcinosis are potential complications for patients with ADH1, in which the combined effects of enhanced CASR signaling in the parathyroid glands and in the renal distal ...
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A Paradoxical Mutant GATA Factor
... Construction of a plasmid coding for and expression of the NirA protein. A full-length cDNA clone of nirA was constructed as follows. A NcoI-HaeII 314-bp fragment, obtained from the partial nirA cDNA clone cbs15J2 (12), ...
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A Human Gain-of-Function STING Mutation Causes Immunodeficiency and Gammaherpesvirus-Induced Pulmonary Fibrosis in Mice
... dominant gain-of-function STING mutations have a pediatric autoinflammatory syndrome known as STING- associated vasculopathy with onset in infancy (SAVI) ...N153S gain-of-function ...
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Gain of function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension
... acid–to–lysine mutation at position 65 (E65K) of the protein was found in the third exon of the KCNMB1 ...E65K mutation (KK + KE) decreased with increas- ing DBP values (Figure 1A), from ...
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