Additional file 1: Table S1. of A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis

Genes involved in our PCH patient deletion. (DOCX 18 kb

Immunohistochemical detection of LCN2 and GPC3.

<p>(A) LCN2 staining in normal thyroid. (B) LCN2 staining in PTC. (C) GPC3 staining in normal thyroid. (D) GPC3 staining in PTC. (E) Proportions of positive and negative samples in each tissue group.</p

Expression of <i>PAX8</i> Target Genes in Papillary Thyroid Carcinoma - Fig 2

<p><b>Putative PAX8 target genes whose mRNA levels were most strongly correlated with those of <i>PAX8</i> in PTCs</b> Levels of mRNA for <i>ATP1B1</i> (A) and <i>KCNIP3</i> (B) are plotted against PAX8 mRNA levels measured in 31 CT-PTCs (•) and 5 FV-PTCs (○). R and p values were calculated with the Spearman rank correlation test.</p

Expression of putative PAX8 target genes in the 36 PTCs.

<p>Expression of putative PAX8 target genes in the 36 PTCs.</p

PCA of PAX8 target genes displaying marked PTC-related dysregulation.

<p>Analysis was performed with data for the four <i>PAX8</i> target genes (<i>LCN2</i>, <i>GPC3</i>, <i>KCNIP3</i>, <i>SCD1</i>) that were most markedly dysregulated in PTCs (red diamonds) compared with normal thyroid (NT) tissues (green diamonds). (A) Our dataset (36 PTC and 18 NTs). (B) TCGA dataset (486 PTC and 59 NTs). PCA was performed with the built-in prcomp function in R software.</p

<i>PAX8</i> expression in normal and tumor thyroid tissues of PTC patients.

<p>(A) Mean (SD) <i>PAX8</i> mRNA levels found in normal thyroid tissuesamples (n = 18) and PTCs (n = 36), assessed by qPCR. (B-D) Representative images of immunohistochemical staining for PAX8 protein levels in (B) normal thyroid tissues; (C) PAX8-positive PTCs; and (D) PAX8-negative PTCs. (E) Mean H scores for immunohistochemical labeling of PAX8 protein in normal thyroid tissues (12 samples) and PTC (38 samples).</p

Expression of putative PAX8 target genes in the 36 PTCs stratified by ATA risk and <i>BRAF</i> mutational status.

<p>Expression of putative PAX8 target genes in the 36 PTCs stratified by ATA risk and <i>BRAF</i> mutational status.</p

Primer and probe sequences used for the real-time detection of β-actin.

<p>Primer and probe sequences used for the real-time detection of β-actin.</p

mRNA quantification of VEGF relative to the age and clinical conditions of the patients.

<p>(A) Comparison of the level of VEGF mRNA in PBMCs from HD pre-manifest, manifest patients and age- and sex-matched healthy controls.Age 27–40: Controls = 15; pre-manifest = 12; manifest = 13; Age 43–58: Controls = 26; pre-manifest = 8; manifest = 42; Age 59–84: Controls = 13; manifest = 35; ** p<0.01; *** p<0.001. (B) Comparison of the level of VEGF mRNA in PBMCs of patients with different stages of the disease: pre-manifest = 20; early-manifest = 17; manifest = 55; late-manifest = 18;* p<0.05. The mean values ± SD of three independent assays are shown.</p

Primers used to evaluate the number of CAG repeats for the molecular diagnosis of HD.

<p>Primers used to evaluate the number of CAG repeats for the molecular diagnosis of HD.</p