Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Conserved Sequence/ genetics"'
Autor:
Hugo Marcelino, Renata Bordeira-Carriço, Solangel Rivero-Gil, José Bessa, Silvia Naranjo, Ana Gali-Macedo, Joana Teixeira, Mafalda Galhardo, João Amorim, Joana Marques
Publikováno v:
Cell Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Summary The notochord is an evolutionary novelty in vertebrates that functions as an important signaling center during development. Notochord ablation in chicken has demonstrated that it is crucial for pancreas development; however, the molecular mec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc569be2d6a1ae87e3d8b4813f991da2
https://hdl.handle.net/10216/143488
https://hdl.handle.net/10216/143488
Autor:
Asli Silahtaroglu, Lusine Nazaryan-Petersen, Mads Bak, Lotte Nylandsted Krogh, Maria Kirchhoff, Morten Frisch, Claire A. Boring, Niels Tommerup, Nete Munk Nielsen, Susanne Kjaergaard, Thue Bryndorf, Chelsea Lowther, Peter Jensen, Karen Brøndum-Nielsen, Jan Hansen, Ryan L. Collins, Mana M. Mehrjouy, Michael E. Talkowski, Christina Halgren, Zahra El-Schich, Claus Hansen, Yuan Mang, Christina Fagerberg, Allan Lind-Thomsen, Iben Bache
Publikováno v:
Halgren, C, Nielsen, N M, Nazaryan-Petersen, L, Silahtaroglu, A, Collins, R L, Lowther, C, Kjaergaard, S, Frisch, M, Kirchhoff, M, Brøndum-Nielsen, K, Lind-Thomsen, A, Mang, Y, El-Schich, Z, Boring, C A, Mehrjouy, M M, Jensen, P K A, Fagerberg, C, Krogh, L N, Hansen, J, Bryndorf, T, Hansen, C, Talkowski, M E, Bak, M, Tommerup, N & Bache, I 2018, ' Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes ', American Journal of Human Genetics, vol. 102, no. 6, pp. 1090-1103 . https://doi.org/10.1016/j.ajhg.2018.04.005
The 6%–9% risk of an untoward outcome previously established by Warburton for prenatally detected de novo balanced chromosomal rearrangements (BCRs) does not account for long-term morbidity. We performed long-term follow-up (mean 17 years) of a reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deeaa3ef647552fc0aabb4fe8680b625
https://findresearcher.sdu.dk:8443/ws/files/151868134/main_2_.pdf
https://findresearcher.sdu.dk:8443/ws/files/151868134/main_2_.pdf
Autor:
Jamal Tazi, Isabelle Behm-Ansmant, José M.P. Freije, Claire Navarro, James Stévenin, Annachiara De Sandre-Giovannoli, Fernando G. Osorio, Isabel C. Lopez-Mejia, Cyril F. Bourgeois, Christiane Branlant, Nicolas Lévy, Carlos López-Otín, Valentin Vautrot, Marion de Toledo
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
Human Molecular Genetics, 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540--55. ⟨10.1093/hmg/ddr385⟩
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
Human Molecular Genetics, 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540--55. ⟨10.1093/hmg/ddr385⟩
International audience; Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C\textgreaterT; p.Gly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d814b0799cc4a5ebd703c809c3ce67
https://doi.org/10.1093/hmg/ddr385
https://doi.org/10.1093/hmg/ddr385
Autor:
Charlotte Passemar, Alexandre Pawlik, Wladimir Malaga, Flavie Moreau, Mamadou Daffé, Carlos Martin, Roland Brosch, Christophe Guilhot, Catherine Astarie-Dequeker, Françoise Laval, Jesús Gonzalo-Asensio
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Proceedings of the National Academy of Sciences of the United States of America, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
International audience; Although the bovine tuberculosis (TB) agent, Mycobacterium bovis, may infect humans and cause disease, long-term epidemiological data indicate that humans represent a spill-over host in which infection with M. bovis is not sel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d71c0a455726970b4a1c9fe0ec44b4
https://doi.org/10.1073/pnas.1406693111
https://doi.org/10.1073/pnas.1406693111
Publikováno v:
Long, H K, King, H W, Patient, R K, Odom, D T & Klose, R J 2016, ' Protection of CpG islands from DNA methylation is DNA-encoded and evolutionarily conserved ', Nucleic Acids Research, vol. 44, no. 14, pp. 6693-706 . https://doi.org/10.1093/nar/gkw258
Nucleic Acids Research
Nucleic Acids Research
DNA methylation is a repressive epigenetic modification that covers vertebrate genomes. Regions known as CpG islands (CGIs), which are refractory to DNA methylation, are often associated with gene promoters and play central roles in gene regulation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7156a0014a5f61e30281b7b9990c67cf
https://hdl.handle.net/20.500.11820/588e4b97-2b42-487d-91c7-2371fc936e69
https://hdl.handle.net/20.500.11820/588e4b97-2b42-487d-91c7-2371fc936e69
Autor:
Leonardo D'Aiuto, J. Richard Chaillet, Ariane Paoloni-Giacobino, Bonnie Reinhart, M. Cecilia Cirio
Publikováno v:
Gene, Vol. 399, No 1 (2007) pp. 33-45
Genomic imprinting is a conserved epigenetic phenomenon in eutherian mammals, with regards both to the genes that are imprinted and the mechanism underlying the expression of just one of the parental alleles. Epigenetic modifications of alleles of im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520d07ce52e8c5b55f17f1c88ca55022
https://doi.org/10.1016/j.gene.2007.04.028
https://doi.org/10.1016/j.gene.2007.04.028
Publikováno v:
Nature Reviews Genetics, Vol. 6, No 2 (2005) pp. 151-157
Mammalian genomes contain highly conserved sequences that are not functionally transcribed. These sequences are single copy and comprise approximately 1-2% of the human genome. Evolutionary analysis strongly supports their functional conservation, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b4e3890cff9199caf36fbda8976199
https://doi.org/10.1038/nrg1527
https://doi.org/10.1038/nrg1527
Autor:
Fritz Mueller, Krisztina Takács-Vellai, Tibor Vellai, Alexandre Reymond, Olivier Menzel, Stylianos E. Antonarakis, Michel Guipponi
Publikováno v:
Genomics, Vol. 84, No 2 (2004) pp. 320-330
Down syndrome (DS), as a phenotypic result of trisomy 21, is the most frequent aneuploidy at birth and the most common known genetic cause of mental retardation. DS is also characterized by other phenotypes affecting many organs, including brain, mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802ec9ab69ec8491488b9a1c3c87fe54
https://doi.org/10.1016/j.ygeno.2004.04.002
https://doi.org/10.1016/j.ygeno.2004.04.002
Autor:
Ewan Birney, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis, Alexandre Reymond, Scott Schwarz, Ewen F. Kirkness
Publikováno v:
Genome Research, Vol. 14, No 5 (2004) pp. 852-859
The analysis of conservation between the human and mouse genomes resulted in the identification of a large number of conserved nongenic sequences (CNGs). The functional significance of this nongenic conservation remains unknown, however. The availabi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc6ff4ca0d0327780e7286078d890e4
https://doi.org/10.1101/gr.1934904
https://doi.org/10.1101/gr.1934904
Autor:
Stylianos E. Antonarakis, C. Victor Jongeneel, Samuel Deutsch, Volker Flegel, Philipp Bucher, Nathalie Scamuffa, Brian Stevenson, Emmanouil T. Dermitzakis, Catherine Ucla, Robert Lyle, Alexandre Reymond
Publikováno v:
Nature, Vol. 420, No 6915 (2002) pp. 578-582
The use of comparative genomics to infer genome function relies on the understanding of how different components of the genome change over evolutionary time. The aim of such comparative analysis is to identify conserved, functionally transcribed sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1234d31552aade41f3bd1278e85628f6
https://doi.org/10.1038/nature01251
https://doi.org/10.1038/nature01251