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Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Nature Communications
Nature Communications
Retrotransposons are endogenous elements that have the ability to mobilise their DNA between different locations in the host genome. The Ty3 retrotransposon integrates with an exquisite specificity in a narrow window upstream of RNA Polymerase (Pol)
Autor:
Fumihito Saitow, Shinji Tanaka, Janak R. Awasthi, Kota Tamada, François Spitz, Keita Fukumoto, Nobuhiro Nakai, Hidenori Suzuki, Tsuyoshi Toya, Toru Takumi, Shigeo Okabe
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communications
Nature Communications
Maternally inherited duplication of chromosome 15q11-q13 (Dup15q) is a pathogenic copy number variation (CNV) associated with autism spectrum disorder (ASD). Recently, paternally derived duplication has also been shown to contribute to the developmen
A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
Autor:
Salil A. Lachke, Pirro G. Hysi, Ronald B. Melles, Deepti Anand, Hélène Choquet, Gabriel Cuellar-Partida, Jie Yin, Thomas J. Hoffmann, Wei Wang, K. Saidas Nair, Eric Jorgenson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communications
Nature Communications
Cataract is the leading cause of blindness among the elderly worldwide and cataract surgery is one of the most common operations performed in the United States. As the genetic etiology of cataract formation remains unclear, we conducted a multiethnic
Autor:
D. Stephen Charnock-Jones, Pieter-Jan Volders, Sungsam Gong, Francesca Gaccioli, Lennart Martens, Gordon C. S. Smith, Emma Cook, Ulla Sovio, Paul D. W. Kirk, Justyna Dopierala, Sylvia Richardson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
NATURE COMMUNICATIONS
NATURE COMMUNICATIONS
Funder: Department of Health
The placenta is the interface between mother and fetus and inadequate function contributes to short and long-term ill-health. The placenta is absent from most large-scale RNA-Seq datasets. We therefore analyze long a
The placenta is the interface between mother and fetus and inadequate function contributes to short and long-term ill-health. The placenta is absent from most large-scale RNA-Seq datasets. We therefore analyze long a
Autor:
Wei Yuan, Pirro G. Hysi, Charles A. Mein, Elaine M. Dennison, Jordana T. Bell, Richard J. Acton, Fei Gao, Karen A. Lillycrop, Jun Wang, Eva Wozniak, Nicholas C Harvey, Yudong Xia, Tim D. Spector, Christopher G. Bell, Emma Bourne, Cyrus Cooper
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Understanding how the epigenome deteriorates with age and subsequently impacts on biological function may bring unique insights to ageing-related disease mechanisms. As a central cellular apparatus, tRNAs are fundamental to the information flow from
Autor:
Robert J. Gruninger, Scott R. Saleska, Stephen Nayfach, Maria E. Hernandez, Graeme T. Attwood, Emiley A. Eloe-Fadrosh, Steven J. Hallam, Sarah C. Bagby, Simon Roux, Virginia I. Rich, Tim A. McAllister, Michelle A. Allen, Michelle A. O’Malley, Ricardo Cavicchioli, Ludmila Chistoserdova, Blair G. Paul, Matthias Hess, Wen Tso Liu, Xuefeng Peng
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature communications, vol 12, iss 1
Nature Communications
Nature communications, vol 12, iss 1
Nature Communications
Changes in the sequence of an organism’s genome, i.e., mutations, are the raw material of evolution. The frequency and location of mutations can be constrained by specific molecular mechanisms, such as diversity-generating retroelements (DGRs). DGR
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Nature Communications
The RNA-binding protein SFPQ plays an important role in neuronal development and has been associated with several neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Alzheimer’s disease. He
Autor:
Heejoon Jo, Jeremiah Holt, James Stephen Marron, Michael I. Love, Scott Newman, Xiaobei Zhao, Katherine A. Hoadley, Hyo Young Choi, Michele C. Hayward, D. Neil Hayes
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communications
Nature Communications
High-throughput sequencing protocols such as RNA-seq have made it possible to interrogate the sequence, structure and abundance of RNA transcripts at higher resolution than previous microarray and other molecular techniques. While many computational
Autor:
Federica Cruciani, Enrico Pracucci, Laura Gritti, Laura Cancedda, Laura Mosti, Silvia Landi, Olga Cozzolino, Claudia Lodovichi, Riccardo Parra, Carlo Sala, Chiara Verpelli, Francesco Trovato, Gabriele Nardi, Vinoshene Pillai, Andrzej W. Cwetsch, Andrea Maset, Gian Michele Ratto
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications
Nature communications 11 (2020). doi:10.1038/s41467-020-19864-w
info:cnr-pdr/source/autori:Trovato F.; Parra R.; Pracucci E.; Landi S.; Cozzolino O.; Nardi G.; Cruciani F.; Pillai V.; Mosti L.; Cwetsch A.W.; Cancedda L.; Gritti L.; Sala C.; Verpelli C.; Maset A.; Lodovichi C.; Ratto G.M./titolo:Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter/doi:10.1038%2Fs41467-020-19864-w/rivista:Nature communications/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
Nature Communications
Nature communications 11 (2020). doi:10.1038/s41467-020-19864-w
info:cnr-pdr/source/autori:Trovato F.; Parra R.; Pracucci E.; Landi S.; Cozzolino O.; Nardi G.; Cruciani F.; Pillai V.; Mosti L.; Cwetsch A.W.; Cancedda L.; Gritti L.; Sala C.; Verpelli C.; Maset A.; Lodovichi C.; Ratto G.M./titolo:Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter/doi:10.1038%2Fs41467-020-19864-w/rivista:Nature communications/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
Genetic mosaicism, a condition in which an organ includes cells with different genotypes, is frequently present in monogenic diseases of the central nervous system caused by the random inactivation of the X-chromosome, in the case of X-linked patholo
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications
Nature Communications
The discovery of ancestral RAG transposons in early deuterostomia reveals the origin of vertebrate V(D)J recombination. Here, we analyze the functional regulation of a RAG transposon, ProtoRAG, in lancelet. We find that a specific interaction between