Additional file 1: of C14orf132 gene is possibly related to extremely low birth weight

Timeline summarizing the clinical course of the children described in this case report. (PDF 210 kb

Additional file 2: of Looking beyond the brain to improve the pathogenic understanding of Parkinson’s disease: implications of whole transcriptome profiling of Patients’ skin

The comparative gene expression list from RNA-sequencing analysis of skin samples from Parkinson’s Disease patients and controls. An excel file of all regulated genes between Parkinson’s Disease patients and control skin samples from RNA-sequencing analysis, which includes a column form of data including the geneID, log2FC, logCPM, p-value, FDR, the HGNC identifier and the name of the gene. (XLSX 1752 kb

Additional file 1: Table S1. of Looking beyond the brain to improve the pathogenic understanding of Parkinson’s disease: implications of whole transcriptome profiling of Patients’ skin

Demographic and clinical characteristic of patients with Parkinson’s Disease. * MMSE was not obtained from patient nr.5; PIGD, postural instability gait disorder; MDS-UPDRS, Movement Disorders Society Unified Parkinson’s Disease Rating Scale, scores range from 0 to 260 (higher scores indicating more severe disability; [18, 19]). Hoehn and Yahr stages from 1 to 5 (higher scores indicating more severe disability, [20]). Schwab and England scores range from 0 to 100 (lower scores indicating more severe disability; [21]). MMSE, mini mental state examination, scores range from 0 to 30 (scores under 24 indicating dementia; [22]). Table S2. The cellular and mitochondrial metabolism pathways affected in Parkinson’s disease versus normal skin. Table S3. The protein metabolism pathways affected in Parkinson’s disease versus normal skin. Table S4. The skin homeostasis pathways affected in Parkinson’s disease versus normal skin. Table S5. The nuclear pathways affected in Parkinson’s disease versus normal skin. Table S6. The signalling/tumorigenicity pathways affected in Parkinson’s disease versus normal skin. Table S7. The immune pathways affected in Parkinson’s disease versus normal skin. Table S8. Differentially expressed genes in Parkinson’s disease versus normal skin validated by qRT-PCR. Gene names: serum amyloid A-1 and A-2 (SAA-1,-2), haemoglobin α-2 (HBA-2), calmodulin-like 6 (CALML-6), DiGeorge syndrome critical region gene 6-like (DGCR-6 L), cystatin E/M (CST E/M), olfactory receptor family 2 subfamily H member 2 (OR2HR), reactive oxygen species modulator 1 (ROMO-1), ADAM-like decysin 1 (ADAMDEC), hypocretin (orexin) neuropeptide precursor (HCRT), killer cell lectin-like receptor subfamily C member 3 (KLRC-3), apolipoprotein C-1 (APOC-1).). Table S9. Demographic and clinical characteristic of patients with Parkinson’s Disease used in the qRT-PCR analysis. (DOCX 97 kb

Melanocytes in the Skin – Comparative Whole Transcriptome Analysis of Main Skin Cell Types

<div><p>Melanocytes possess several functions besides a role in pigment synthesis, but detailed characteristics of the cells are still unclear. We used whole transcriptome sequencing (RNA-Seq) to assess differential gene expression of cultivated normal human melanocytes with respect to keratinocytes, fibroblasts and whole skin. The present results reveal cultivated melanocytes as highly proliferative cells with possible stem cell-like properties. The enhanced readiness to regenerate makes melanocytes the most vulnerable cells in the skin and explains their high risk of developing into malignant melanoma.</p></div

Comparative pathway analysis of MC and KC, FB and whole skin.

<p>Red plots indicate pathways, which were prominently expressed in MC. Blue plots mark pathways, which were downregulated in MC (A, B, C) and concomitantly upregulated in the whole skin (A), KC (B) and FB (C), respectively. The word sizes in wordclouds are defined by the p-values.</p

Uniquely expressed genes in MC.

<p>The list of genes, expressed in MC, but not in KC and FB.</p><p>Uniquely expressed genes in MC.</p

The number of detected and uniquely expressed genes.

<p>The number of detected and uniquely expressed genes.</p

The number of differentially expressed genes in each study group - melanocyte (MC), keratinocyte (KC), fibroblast (FB) and whole skin (Skin).

<p>Red triangles – upregulated genes, blue triangles – downregulated genes.</p

COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19

The COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.</p