& van Bree, C. Clonogenic assay of cells in vitro.
Chem.
Identification of mutations through whole exome sequencing has enabled molecular diagnosis of genetic disorders. Around 50–60 million reads were generated, of which >98% of the paired-end reads were properly paired and aligned to the human reference genome (GRCh37/hg19). Google Scholar. Cell 57, 207–218 (2015).
6, 7839 (2015). Protoc. Briefly, Dox (1 μg/ml)-treated BMDMs were primed with LPS (100 ng/ml) for 2 h and stimulated with ATP (1 mM) for 30 mins. doi: 10.1080/01677063.2017.1404058, 4. To examine whether the observed increase in NLRP3 inflammasome assembly/activation is due to specific effects of UVRAGFS, or due to defective autophagy, we conducted the same experiment in macrophages from mice that were deficient for the autophagy gene Atg5 (Atg5−/−), an essential autophagy protein that associates with Atg12 and Atg16 to conjugate LC3 to autophagosome membrane40. The ultraviolet (UV) irradiation resistance-associated gene (UVRAG) is an autophagy-related factor that forms a complex with Beclin1 and the lipid kinase Vps34 to promote autophagic membrane remodeling8. Cell Mol. n = 3. These three mutations were present in neither the ExAC database nor our in-house whole-exome sequencing data from 3280 individuals. n = 5. h Representative confocal microscopy (left) and quantification (right) of intracellular distribution of Parkin (green) relative to Tom20-labeled mitochondria (red) in LPS + ATP-treated iUVRAGFS BMDM. Rev.
n.s., not significant; *P < 0.05; **P < 0.01; ***P < 0.001; ****P < 0.0001.
1, 154–170 (2015).
PubMed helped with bone marrow chimera experiments. Gross bleeding was defined as fresh perianal blood with obvious hematochezia. Concentration of DNA was quantified with Qubit Fluorometric Quantification (Thermo Fisher).
We identified 88, 94, 83, and 94 CNVs with correlation value > 0.98 in proband, brother, mother and father's samples, respectively.
Karyotyping was carried out on blood samples of patients using standard procedures to look for chromosomal abnormalities. Coll, R. C. et al. A lack of sufficient autophagy has been implicated in inflammatory pathologies and immune-dysfunction such as sepsis, Crohn’s disease, and diabetes6. 2008, pdb prot5080 (2008). To study the role of UVRAGFS in a temporal-specific manner, we generated a conditional Flag-tagged UVRAGFS-luciferase transgene under the control of a Dox-responsive element (designated TRE-UVRAGFS) (Supplementary Fig. The levels of Ki67 staining (top right) and tumor apoptosis (bottom right) in the indicated colon were quantified. doi: 10.1101/gad.16830211, Keywords: autosomal recessive, truncating mutation, WNT signalling, Embryogenesis, genetic disorders, Citation: Muthusamy B, Bellad A, Prasad P, Bandari AK, Bhuvanalakshmi G, Kiragasur RM, Girimaji SC and Pandey A (2020) A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. The loss of exon5 results in deletion of a region of 211-407 in LINS1 protein and found to be deleterious (19). The reduced association of β-catenin with autophagosomes in these mice was accompanied by increased interaction with TCF4, leading to upregulation of the Wnt/β-catenin signaling (Fig.
25, 795–800 (2011).
Mice were euthanized, and liver was rapidly fixed overnight at 4 °C in 1/2 strength Karnovsky’s (2% paraformaldehyde and 2.5% glutaraldehyde in 0.2 M sodium cacodylate buffer, pH 7.4).
Fodde, R. & Brabletz, T. Wnt/beta-catenin signaling in cancer stemness and malignant behavior.
7k).
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