Additional file 1 of Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study

Additional file 1: Table S1. A table detailing the clinical signs and genomic defects

Additional file 1: of De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

Supplementary data 1. (DOCX 30 kb

Additional file 3: of Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Details of eight clinical relevant CNVs. (XLS 37 kb

Additional file 1: Table S1. of Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray

List of 1469 height-associated candidate genes analyzed by genome-wide association studies. Table S2. Summary of type III and IV CNVs. Table S3. Primers of qPCR. Figure S1. Screenshots of chromosome microarray and qPCR. (DOC 7216 kb

Prevalence of rare non-synonymous mutations in <i>FTO</i> in obese and lean children.

<p>Rare non-synonymous mutations denote variations with frequency<0.01.</p

Demographic and clinicopathological characteristics of the patients (n = 17).

<p>Abbreviations: IICP, increased intracranial pressure; MTD, mean tumor diameter; GBM, glioblastoma multiforme.</p

DataSheet1_Paper-based LRET sensor for the detection of total heavy rare-earth ions.ZIP

Based on the mechanism of luminescence resonance energy transfer (LRET) and using a special single strand DNA as the recognition element, a portable paper-based sensor for the accurate detection of total heavy rare-earth ions (mainly Gd3+, Tb3+ and Dy3+) concentration was proposed. The RNA cleaving-DNAzyme should recognize rare-earth ions to cleave RNA on DNA duplexes linking UCNPs and AuNPs, causing UCNPs and AuNPs to approach each other, inducing LRET, which attenuated the green upconversion luminescence (UCL) triggered by the 980 nm laser. UCL was captured by a charge-coupled device (CCD) image sensor and processed with the red-green-blue (RGB) image to quantitatively analyze heavy rare-earth ions in the samples. In the range of 5–50 μmol·L-1, the sensor has good sensitivity, with the limit of detection of 1.26 μmol L−1.</p

Functional impacts of <i>FTO</i> and <i>SH2B1</i> rare non-synonymous mutations.

<p>PROVEAN: Protein Variation Effect Analyzer; SIFT: Sorts Intolerant From Tolerant; Polyphen-2: Polymorphism Phenotyping v2.</p

Decreased expression of LIN28 mRNA and protein in human glioma cells by siRNA.

<p>U251 and U373 cells were transfected with lentivirus-based small interfering RNA (shLIN28) or the empty plasmid (as the negative control, Control). A,B. RT-PCR and Western blot analysis were used to detect the LIN28 mRNA and protein expression levels in U251 and U373 cells. C,D. CCK-8 assays were used to determine the effects of LIN28 knockdown on cell proliferation in U251 and U373 cells. E,F. The effects of LIN28 knockdown on cell colony formation in U251 and U373 cells. * <i>p</i><0.05, ** <i>p</i><0.01.</p

The anthropological characteristics of children with early-onset obesity and lean control.

<p>Data are means±SD unless otherwise indicated.</p