Ontology highlight
ABSTRACT:
INSTRUMENT(S): LTQ Orbitrap Velos
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Hela Cell
SUBMITTER: Harmjan Vos
LAB HEAD: P.M. van Hasselt
PROVIDER: PXD011355 | Pride | 2019-09-02
REPOSITORIES: Pride
Items per page: 5 1 - 5 of 55 |
Haijes Hanneke A HA Koster Maria J E MJE Rehmann Holger H Li Dong D Hakonarson Hakon H Cappuccio Gerarda G Hancarova Miroslava M Lehalle Daphne D Reardon Willie W Schaefer G Bradley GB Lehman Anna A van de Laar Ingrid M B H IMBH Tesselaar Coranne D CD Turner Clesson C Goldenberg Alice A Patrier Sophie S Thevenon Julien J Pinelli Michele M Brunetti-Pierri Nicola N Prchalová Darina D Havlovicová Markéta M Vlckova Markéta M Sedláček Zdeněk Z Lopez Elena E Ragoussis Vassilis V Pagnamenta Alistair T AT Kini Usha U Vos Harmjan R HR van Es Robert M RM van Schaik Richard F M A RFMA van Essen Ton A J TAJ Kibaek Maria M Taylor Jenny C JC Sullivan Jennifer J Shashi Vandana V Petrovski Slave S Fagerberg Christina C Martin Donna M DM van Gassen Koen L I KLI Pfundt Rolph R Falk Marni J MJ McCormick Elizabeth M EM Timmers H T Marc HTM van Hasselt Peter M PM
American journal of human genetics 20190725 2
The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of pol II. An iterative approach combining structural evaluation and mass spectrometry analyses, the use of S. cerevisiae as a model system, and the assessment of cell viability in HeLa cells allowed us to classify eleven variants as probably disease-causing ...[more]