Loss of Function Mutation
A Comt1 Loss of Function Mutation Is Insufficient for Loss of Pungency in Capsicum
... Comt1 loss-of-function mutation was insufficient for loss of ...not function and capsaicinoid accumulation would decrease ...Comt2 loss-of-function mutant, which will be ...
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Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG
... IMPA1/Impa1 mutation, we could not use such literature to develp an a priori hy- pothesis of an electrophyiological biomarker of IMPA1 ...a loss-of-function mutation of IMPA1 may result in a ...
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A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
... the loss of a polar side chain inter- action between Thr-272 and Leu-274 ...to loss of DNA binding and FOG2 ...This mutation was predicted to disrupt the helix turn composed of residues 355–358, ...
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Identification of genomic features in the classification of loss- and gain-of-function mutation
... Once the LoF and GoF mutation information was col- lected from the literature, the mutation data set was preprocessed for further analysis. First, we selected LoF and GoF mutations that were published after ...
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Loss of function CARD8 mutation causes NLRP3 inflammasome activation and Crohn’s disease
... CARD8 mutation does not affect pyrin or NLRC4 inflam- masome activation, but has a marginal effect on AIM inflammasome ...a loss-of-function mutation in CARD8 causes increased IL-1β pro- ...
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The High-Mobility Group A-Type Protein CarD of the Bacterium Myxococcus xanthus as a Transcription Factor for Several Distinct Vegetative Genes
... a loss- of-function mutation in the carD gene (carD1) on the expression of a random collection of lacZ-tagged genes, which are normally expressed in the dark during vegetative growth in rich ...carD1 ...
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Functional interactions of neurogenic genes of Drosophila melanogaster.
... Crosses: Crosses were made in order to obtain embryos simultaneously homozygous, or hemizygous in the case of Notch ( N ) mutations, for a loss-of-function mutation of one locus [r] ...
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A Paradoxical Mutant GATA Factor
... AreA1900 discriminates between two classes of AreA-depen- dent promoters. Vertebrate GATA factors are involved in local chromatin alterations (10, 58), but it has not been shown that they are involved in loss of ...
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Transcriptional regulation of neuropeptide and peptide hormone expression by the Drosophila dimmed and cryptocephal genes
... specific loss-of-function mutation in dimm displayed reduced levels of endogenous ETH-like protein(s), but not ETH mRNA, in the endocrine Inka cells (see ...
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Molecular Nature of 11 Spontaneous de Novo Mutations in Drosophila melanogaster
... the mutation occurred at bw, and bw is far Flies and cultural conditions: We sampled ⵑ100 mated fe- away from pr and cn on chromosome 2), and the mutant allele males from a large wild population of ...lethal ...
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Bayesian Estimation Of Shift Point In Poisson Model Under Asymmetric Loss Functions
... entropy loss functions (GELF) by Calabria and Pulcini (1996) and precautionary loss function (PLE) studied by ...asymmetric loss functions are also studied by Ohtani (1995), Parsian and ...
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Bayesian Estimation of Reliability Function for A Changing Exponential Family Model under Different Loss Functions
... rate function, which are observed due to major operations or specific activities, that is may observed at some point of time instability in the sequence of life ...
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Pharmacogenomic Profiling of the PI3K/PTEN Pathway in Sporadic Breast Cancer
... include mutation, epigenetic silencing of promoter and post translational modification has continued to rise as new insights into the pathology of its inactivation in cancer ...PTEN loss, can now be put in ...
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Delineating the GRIN1 phenotypic spectrumA distinct genetic NMDA receptor encephalopathy
... NMDAR encephalitis is an acute paraneoplastic or parainfectious neurologic disorder where decay of NMDARs is considered to be the underlying patho- mechanism, partially paralleling the pathophysiology of GluN1 ...
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X linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
... We proceeded to investigate the effect of PIH1D3 mutations on assembly of the ODAs and IDAs at the molecular level by immunofluorescence staining of PIH1D3-mutated respiratory cilia using antibodies directed against two ...
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MOD-D, a Gα Subunit of the Fungus Podospora anserina, Is Involved in Both Regulation of Development and Vegetative Incompatibility
... P. anserina is a heterothallic ascomycete. Life cycle and general adenylate cyclase, was cloned as a partial physiological methods for genetic analysis have been described (Rizet and suppressor of the mod-D1 ...
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Adenocarcinomas of the gallbladder from United States patients demonstrate less frequent molecular change for several genetic markers than other intra abdominal cancers
... KRAS mutation was present in 2 of 25 (8%) tumors, both were ...of loss of heterozygosity for APC or DCC, KRAS, BRAF or GNAS mutation, or micro- satellite ...
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Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
... almost normal activity in III:2. However, non-random patterns of X-chromosome inactivation were exclusively observed for the index patient (IV:3), who was found to only express the mutant allele in lymphocytes. In this ...
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Investigating Autophagy Dysfunction Induced by a Parkinson's Disease-Causing Mutation in VPS35
... The receptor for hyaluronan-mediated motility, RHAMM, is expressed on the cell surface as well as intracellularly. RHAMM was shown to associate with cytoskeletal components (Assmann, Jenkinson, Marshall, & Hart, ...
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The role of the loss function in the probabilistic function approximation
... The publisher or other rights-holder may allow further reproduction and re-use of this version - refer to the White Rose Research Online record for this item.. Where records identify the[r] ...
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