[PDF] Top 20 A gain of function mutation in IAA18 alters Arabidopsis embryonic apical patterning
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A gain of function mutation in IAA18 alters Arabidopsis embryonic apical patterning
... cells IAA18-1 acts to affect cotyledon formation, we assessed IAA18 expression pattern in ...In iaa18-1NT:GUS embryos, X-gluc staining appeared initially in the apical domain sometimes at the ... See full document
9
In Vivo Analysis of a Gain-of-Function Mutation in the Drosophila eag-Encoded K+ Channel
... F ernandez -F ernandez , J. M., M. T omas , E. V azquez , P. O rio , R. L atorre et al., 2004 Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prev- alence of ... See full document
8
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 ... See full document
9
A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
... RESULTS Identification of a de novo single-point mutation in the GRIK2 gene in a patient with neurodevelopmental delays and intellectual disability. Neu- rologic evaluations of a 10-year-old female yielded a ... See full document
11
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 ... See full document
6
pax1-1 partially suppresses gain-of-function mutations in Arabidopsis AXR3/IAA17
... To characterise in more detail the effect of pax1-1 on the axr3-1 phenotype, we re-crossed pax1-1 into an axr3-1 background. We also constructed double mutants between pax1-1 and a second, weaker semi-dominant allele, ... See full document
13
The axr2-1 mutation of Arabidopsis thaliana is a gain-of-function mutation that disrupts an early step in auxin response.
... The auxin sensitivity of plants carrying a copy of axr2-1 are similar, suggesting that an increase in the ratio of wild-type to mutant gene copies does not alter the effec[r] ... See full document
11
A Gain-of-Function Mutation in Nav1.6 in a Case of Trigeminal Neuralgia
... the mutation described here to TN involves ephaptic transmission, or electrotonic cross-talk between nearby axons, which has been proposed (54,55) as a mechanism contributing to hemi- facial ... See full document
11
Arabidopsis HD Zip II transcription factors control apical embryo development and meristem function
... The Arabidopsis genome encodes ten Homeodomain-Leucine zipper (HD-Zip) II ...proteins. ARABIDOPSIS THALIANA HOMEOBOX 2 ( ATHB2 ), HOMEOBOX ARABIDOPSIS THALIANA 1 ( HAT1 ), HAT2 , HAT3 and ATHB4 are ... See full document
12
Gain-of-function IKBKB mutation causes human combined immune deficiency
... determining function of precise human muta- tions that might account for a novel syndrome is a high ...novo gain-of-function mutation in IKB KB, and a mouse en- gineered to carry the ... See full document
10
Aristapedioid: a gain of function, homeotic mutation in Drosophila melanogaster.
... The distal inversion junction is responsible for the gain of function mutation: We examined more than 100 hybrid dysgenesis induced revertants of the dominant antenna[r] ... See full document
12
An inducible mouse model for skin cancer reveals distinct roles for gain and loss of function p53 mutations
... of function, most result in expression of altered forms of p53, which may exhibit gain-of-function ...p53 gain- of-function versus loss-of-function mutations is critical for the ... See full document
10
Larval body patterning and apical organs are conserved in animal evolution
... on apical patterning, and the molecular fingerprint of ap- ical cell types in the marine annelid Platynereis ...an apical plate that we define by a combination of transcription factors most ... See full document
17
Lats kinase is involved in the intestinal apical membrane integrity in the nematode Caenorhabditis elegans
... How does WTS-1 regulate the integrity of the intestine? One possible mechanism is by regulating the localization of a subset of proteins through phosphorylation. It is known that PAR-1 phosphorylates BAZ, the PAR-3 ... See full document
11
Glycosyl transferases in family 61 mediate arabinofuranosyl transfer onto xylan in grasses
... this function is conserved in other grass GT61 enzymes, we ana- lyzed the xylan structure of further GT61-expressing transgenic ...in Arabidopsis the cDNAs of two rice homologs of TaXAT2, OsXAT2 and OsXAT3, ... See full document
5
Evolution and pleiotropy of TRITHORAX function in Arabidopsis
... the embryonic stage: the lateral organs (leaves), the reproductive organs (flowers), and the seeds origi- nate from the same undifferentiated meristem active throughout the life ...of Arabidopsis changed ... See full document
12
A Mutation in γ-Adducin Impairs Autoregulation of Renal Blood Flow and Promotes the Development of Kidney Disease
... Genetic KO studies only establish that loss of a candidate gene has the potential to affect a phenotype. They provide no information as to whether a sequence variant alters function. Validation of a causal ... See full document
14
TRICHOMELESS1 regulates trichome patterning by suppressing GLABRA1 in Arabidopsis
... Although TCL1 functions as a trichome initiation repressor, as do TRY, CPC, ETC1 and ETC2 (Hülskamp et al., 1994; Wada et al., 1997; Schellmann et al., 2002; Esch et al., 2004; Kirik et al., 2004a; Kirik et al., 2004b), ... See full document
10
Generation of Smurf2 Conditional Knockout Mice
... a targeting vector that contains three Loxp sites, the first two Loxp sites flanking the entire exons 9 and 10 (Figure 1A). In this way, existence of Cre recombinase would lead to deletion of exons 9 and 10, and create a ... See full document
7
Transcriptional Regulatory Logic of Valve Margin Patterning in Arabidopsis.
... Abscission and dehiscence in plants involve controlled developmental programs that result in the formation of specialized tissues, which aid cell separation (Spence et al., 1996; Kim, 2014; Dong and Wang, 2015). ... See full document
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