4 Works
Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation
Xiuwen Zhang, Susan Wagner, Clare Holleley, Janine Deakin, Kazumi Matsubara, Ira Deveson, Deni O'Meally, Hardip Patel, Tariq Ezaz, Zhao Li, Chexu Wang, Melanie Edwards, Jennifer Marshall Graves & Arthur Georges
Pogona vitticeps has female heterogamety (ZZ/ZW) but the master sex determining gene is unknown, as is the case for all reptiles. We show that nr5a1, a gene that is essential in mammalian sex determination, has alleles on the Z and W chromosomes (Z-nr5a1 and W-nr5a1), which are both expressed and can recombine. Three transcript isoforms of Z-nr5a1 were detected in gonads of adult ZZ males, two of which encode a functional protein. However, ZW females...
Patch-clamp dataset (SyncroPatch384PE) for control variants used in a calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
Connie Jiang, Ebony Richardson, Jessica Farr, Adam Hill, Rizwan Ullah, Brett Kroncke, Steven Harrison, Kate Thomson, Jodie Ingles, Jamie Vandenberg & Chai Ann Ng
Modern sequencing technologies have revolutionised our detection of gene variants. However, in most genes, including KCNH2, the majority of missense variants are currently classified as variants of uncertain significance (VUS). The aim of this study was to investigate the utility of an automated patch-clamp assay for aiding clinical variant classification in the KCNH2 gene. The assay was designed according to recommendations proposed by the ClinGen Sequence Variant Interpretation Working Group. Thirty-one variants (17 pathogenic/likely pathogenic,...
Additional file 2 of Extracellular matrix profiles determine risk and prognosis of the squamous cell carcinoma subtype of non-small cell lung carcinoma
Amelia L. Parker, Elise Bowman, Adriana Zingone, Brid M. Ryan, Wendy A. Cooper, Maija Kohonen-Corish, Curtis C. Harris & Thomas R. Cox
Additional file 2: Table S1. Differentially Expressed Hallmark Pathways in ECM-High vs ECM-Low Tumors. Table S2. Differentially Expressed MSigDb C2 Pathways in ECM-High vs ECM-Low Tumors. Table S3. Ligand-Receptor Interactions in ECM-High vs ECM-Low Tumors.
Additional file 2 of Extracellular matrix profiles determine risk and prognosis of the squamous cell carcinoma subtype of non-small cell lung carcinoma
Amelia L. Parker, Elise Bowman, Adriana Zingone, Brid M. Ryan, Wendy A. Cooper, Maija Kohonen-Corish, Curtis C. Harris & Thomas R. Cox
Additional file 2: Table S1. Differentially Expressed Hallmark Pathways in ECM-High vs ECM-Low Tumors. Table S2. Differentially Expressed MSigDb C2 Pathways in ECM-High vs ECM-Low Tumors. Table S3. Ligand-Receptor Interactions in ECM-High vs ECM-Low Tumors.