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Results: 15
The Helicase Aquarius/EMB-4 Is Required to Overcome Intronic Barriers to Allow Nuclear RNAi Pathways to Heritably Silence Transcription
A Akay, T Di Domenico, KM Suen, A Nabih, GE Parada, M Larance, R Medhi, Berkyurek, X Zhang, CJ Wedeles, Rudolph, J Engelhardt, M Hemberg, P Ma, AI Lamond, JM Claycomb, Miska
Jul 16, 2017
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Gorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer, Flavia Leme de Calais, Pietro Ameri, Sangeeta Haydeliz Martinez-Ruiz, Francesca Damiola, Laure Barjhoux, Mads Thomassen, Lars VB Andersen, Carmen Herranz, Francesca Mateo, Luis Palomero, Roderic Espin, Antonio Gómez, Nadia García, Daniel Jimenez, Núria Bonifaci, Ana I Extremera, Julio Castaño, Angel Raya, Eduardo Eyras, Xose S Puente, Joan Brunet, Conxi Lázaro, Gemo, CIMBA, Paolo Radice, Daniel R Barnes, Antonis C Antoniou, Amanda B Spurdle, Miguel de la Hoya, Diana Baralle, Mary Helen Barcellos-Hoff, Miquel A Pujana
Sep 01, 2021
Germline pathogenic variants in BRCA1 confer a high risk of developing breast and ovarian cancer. The BRCA1 exon 11 (formally exon 10) is one of the largest exons and codes for the nuclear localization signals of the...
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Patricia Llovet, Beatriz Díez-Gómez, María José Caloca, Pedro Pérez-Segura, Eugenia Fraile-Bethencourt, Marta Colmena, Sara Carvalho, Jamie Allen, Douglas F. Easton, Peter Devilee, Maaike P. G. Vreeswijk, Miguel de la Hoya, Eladio A. Velasco
Dec 22, 2020
Hereditary breast and/or ovarian cancer is a highly heterogeneous disease with more than 10 known disease-associated genes. In the framework of the BRIDGES project (Breast Cancer Risk after Diagnostic Gene Sequencing), the...
The Macronuclear Genome of $\textit{Stentor coeruleus}$ Reveals Tiny Introns in a Giant Cell
MM Slabodnick, JG Ruby, SB Reiff, EC Swart, S Gosai, S Prabakaran, E Witkowska, GE Larue, S Fisher, RM Freeman, J Gunawardena, W Chu, NA Stover, BD Gregory, M Nowacki, J Derisi, SW Roy, WF Marshall, P Sood
Apr 12, 2017
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Víctor Lorca, Eugenia Fraile-Bethencourt, Ada Esteban-Sánchez, Susana Gómez-Barrero, Sara Carvalho, Jamie Allen, Alicia García-Álvarez, Pedro Pérez-Segura, Leila Dorling, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco
Jan 07, 2022
PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing...
PALB2 VUS aberrant splicing Breast Cancer clinical interpretation functional assay minigene splicing susceptibility genes Alternative Splicing Biomarkers Tumor Breast Neoplasms Case-Control Studies Databases Genetic Exons Fanconi Anemia Complementation Group N Protein Female Humans MCF-7 Cells Protein Isoforms RNA Splice Sites
Transcriptome, proteome and draft genome of Euglena gracilis.
ThankGod E Ebenezer, Martin Zoltner, Alana Burrell, Anna Nenarokova, Anna MG Novák Vanclová, Binod Prasad, Petr Soukal, Carlos Santana-Molina, Ellis O'Neill, Nerissa N Nankissoor, Nithya Vadakedath, Viktor Daiker, Samson Obado, Sara Silva-Pereira, Andrew P Jackson, Damien P Devos, Julius Lukeš, Michael Lebert, Sue Vaughan, Vladimίr Hampl, Mark Carrington, Michael L Ginger, Joel B Dacks, Steven Kelly, Mark C Field
Apr 09, 2019
BACKGROUND: Photosynthetic euglenids are major contributors to fresh water ecosystems. Euglena gracilis in particular has noted metabolic flexibility, reflected by an ability to thrive in a range of harsh environments. E....
Genetic effects on promoter usage are highly context-specific and contribute to complex traits.
Kaur Alasoo, Julia Rodrigues, John Danesh, Daniel F Freitag, Dirk S Paul, Daniel J Gaffney
Feb 04, 2019
Genetic variants regulating RNA splicing and transcript usage have been implicated in both common and rare diseases. Although transcript usage quantitative trait loci (tuQTLs) have been mapped across multiple cell types and...
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Patricia Llovet, Beatriz Díez-Gómez, María José Caloca, Pedro Pérez-Segura, Eugenia Fraile-Bethencourt, Marta Colmena, Sara Carvalho, Jamie Allen, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco
Dec 16, 2020
Hereditary breast and/or ovarian cancer is a highly heterogeneous disease with more than 10 known disease-associated genes. In the framework of the BRIDGES project (Breast Cancer Risk after Diagnostic Gene Sequencing), the...
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Dragana Vuckovic, Erik L Bao, Parsa Akbari, Caleb A Lareau, Abdou Mousas, Tao Jiang, Ming-Huei Chen, Laura M Raffield, Manuel Tardaguila, Jennifer E Huffman, Scott C Ritchie, Karyn Megy, Hannes Ponstingl, Christopher J Penkett, Patrick K Albers, Emilie M Wigdor, Saori Sakaue, Arden Moscati, Regina Manansala, Ken Sin Lo, Huijun Qian, Masato Akiyama, Traci M Bartz, Yoav Ben-Shlomo, Andrew Beswick, Jette Bork-Jensen, Erwin P Bottinger, Jennifer A Brody, Frank JA van Rooij, Kumaraswamy N Chitrala, Peter WF Wilson, Hélène Choquet, John Danesh, Emanuele Di Angelantonio, Niki Dimou, Jingzhong Ding, Paul Elliott, Tõnu Esko, Michele K Evans, Stephan B Felix, James S Floyd, Linda Broer, Niels Grarup, Michael H Guo, Qi Guo, Andreas Greinacher, Jeff Haessler, Torben Hansen, Joanna MM Howson, Wei Huang, Eric Jorgenson, Tim Kacprowski, Mika Kähönen, Yoichiro Kamatani, Masahiro Kanai, Savita Karthikeyan, Fotios Koskeridis, Leslie A Lange, Terho Lehtimäki, Allan Linneberg, Yongmei Liu, Leo-Pekka Lyytikäinen, Ani Manichaikul, Koichi Matsuda, Karen L Mohlke, Nina Mononen, Yoshinori Murakami, Girish N Nadkarni, Kjell Nikus, Nathan Pankratz, Oluf Pedersen, Michael Preuss, Bruce M Psaty, Olli T Raitakari, Stephen S Rich, Benjamin AT Rodriguez, Jonathan D Rosen, Jerome I Rotter, Petra Schubert, Cassandra N Spracklen, Praveen Surendran, Hua Tang, Jean-Claude Tardif, Mohsen Ghanbari, Uwe Völker, Henry Völzke, Nicholas A Watkins, Stefan Weiss, VA Million Veteran Program, Na Cai, Kousik Kundu, Stephen B Watt, Klaudia Walter, Alan B Zonderman, Kelly Cho, Yun Li, Ruth JF Loos, Julian C Knight, Michel Georges, Oliver Stegle, Evangelos Evangelou, Yukinori Okada, David J Roberts, Michael Inouye, Andrew D Johnson, Paul L Auer, William J Astle, Alexander P Reiner, Adam S Butterworth, Willem H Ouwehand, Guillaume Lettre, Vijay G Sankaran, Nicole Soranzo
Nov 04, 2020
Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from...
Heteromeric RNP Assembly at LINEs Controls Lineage-Specific RNA Processing.
Jan Attig, Federico Agostini, Clare Gooding, Anob M Chakrabarti, Aarti Singh, Nejc Haberman, Julian A Zagalak, Warren Emmett, Christopher WJ Smith, Nicholas M Luscombe, Jernej Ule
Sep 18, 2019
Long mammalian introns make it challenging for the RNA processing machinery to identify exons accurately. We find that LINE-derived sequences (LINEs) contribute to this selection by recruiting dozens of RNA-binding proteins...
CLIP LINE repeats MATR3 PTBP1 alternative polyadenylation cryptic exons evolution exonogenesis multivalency splicing Alternative Splicing Animals Binding Sites Exons HeLa Cells Heterogeneous-Nuclear Ribonucleoproteins Humans Introns Long Interspersed Nucleotide Elements Mice Mutation Nuclear Matrix-Associated Proteins Nucleotide Motifs Phylogeny Polyadenylation Polypyrimidine Tract-Binding Protein Protein Binding Protein Interaction Mapping RNA RNA Splicing RNA-Binding Proteins
MicroExonator enables systematic discovery and quantification of microexons across mouse embryonic development
Guillermo E. Parada, Roberto Munita, Ilias Georgakopoulos-Soares, Hugo J. R. Fernandes, Veronika R. Kedlian, Emmanouil Metzakopian, Maria Estela Andres, Eric A. Miska, Martin Hemberg
Jan 22, 2021
Abstract: Background: Microexons, exons that are ≤ 30 nucleotides, are a highly conserved and dynamically regulated set of cassette exons. They have key roles in nervous system development and function, as evidenced by recent...
MicroExonator enables systematic discovery and quantification of microexons across mouse embryonic development.
Guillermo E Parada, Roberto Munita, Ilias Georgakopoulos-Soares, Hugo JR Fernandes, Veronika R Kedlian, Emmanouil Metzakopian, Maria Estela Andres, Eric A Miska, Martin Hemberg
Mar 05, 2021
BACKGROUND: Microexons, exons that are ≤ 30 nucleotides, are a highly conserved and dynamically regulated set of cassette exons. They have key roles in nervous system development and function, as evidenced by recent results...
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Víctor Lorca, Inés Llinares-Burguet, Jamie Allen, Alicia García-Álvarez, Pedro Pérez-Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco-Sampedro
Jul 15, 2022
The ataxia telangiectasia-mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss-of-function variants are associated with 2-fold increased breast cancer risk. We aimed at identifying and...