Zobrazeno 1 - 10
of 338
pro vyhledávání: '"MESH : Alleles"'
Autor:
Andreas Hierholzer, Corinne Chureau, Alessandra Liverziani, Nerea Blanes Ruiz, Bruce M. Cattanach, Alexander N. Young, Manish Kumar, Andrea Cerase, Phil Avner
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, 2022, 119 (28), pp.e2118182119. ⟨10.1073/pnas.2118182119⟩
Proceedings of the National Academy of Sciences of the United States of America, 2022, 119 (28), pp.e2118182119. ⟨10.1073/pnas.2118182119⟩
X chromosome inactivation (XCI) is the process of silencing one of the X chromosomes in cells of the female mammal which ensures dosage compensation between the sexes. Although theoretically random in somatic tissues, the choice of which X chromosome
Autor:
Lluis Quintana-Murci, Maxime Rotival
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-4 (2020)
Genome Biology
Genome Biology, BioMed Central, 2020, 21 (1), pp.3. ⟨10.1186/s13059-019-1920-z⟩
Genome Biology, 2020, 21 (1), pp.3. ⟨10.1186/s13059-019-1920-z⟩
Genome Biology
Genome Biology, BioMed Central, 2020, 21 (1), pp.3. ⟨10.1186/s13059-019-1920-z⟩
Genome Biology, 2020, 21 (1), pp.3. ⟨10.1186/s13059-019-1920-z⟩
International audience; Anatomically modern humans started to exit Africa for the first time at least 60,000 years ago (ya). Along their journey across the globe, they encountered and admixed with other hominins that are now extinct, such as the Nean
Autor:
Astrid T. Groot, Brad S. Coates, David G. Heckel, Melanie Unbehend, Teun Dekker, Fotini Koutroumpa, Erik B. Dopman, Genevieve M. Kozak
Publikováno v:
Nature Communications
Nature Communications, 2021, 12 (1), pp.2818. ⟨10.1038/s41467-021-23026-x⟩
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.2818. ⟨10.1038/s41467-021-23026-x⟩
Nature Communications, 12:2818. Nature Publishing Group
Nature Communications, 2021, 12 (1), pp.2818. ⟨10.1038/s41467-021-23026-x⟩
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.2818. ⟨10.1038/s41467-021-23026-x⟩
Nature Communications, 12:2818. Nature Publishing Group
The sex pheromone system of ~160,000 moth species acts as a powerful form of assortative mating whereby females attract conspecific males with a species-specific blend of volatile compounds. Understanding how female pheromone production and male pref
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6f57cf501264c41a6dbad628ac10751
https://hal.sorbonne-universite.fr/hal-03250080
https://hal.sorbonne-universite.fr/hal-03250080
Autor:
William Camu, Guillaume Banneau, Samia Ait Said, Eric LeGuern, Christel Depienne, Bophara Kol, Caroline Rooryck, Clarisse Scherer-Gagou, Giovanni Stevanin, Laurène Tissier, Perrine Pennamen, Bénédicte Héron, Cyril Goizet, Marine Guillaud-Bataille, Chloé Angelini
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (7), pp.1158-1163. ⟨10.1038/s41431-021-00847-4⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (7), pp.1158-1163. ⟨10.1038/s41431-021-00847-4⟩
Eur J Hum Genet
International audience; Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bbe3ec088b550d1f7d5f66c189a2649
https://hal.archives-ouvertes.fr/hal-03403700
https://hal.archives-ouvertes.fr/hal-03403700
Autor:
Faria, Joana, Glover, Lucy, Hutchinson, Sebastian, Boehm, Cordula, Field, Mark C., Horn, David
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3023. ⟨10.1038/s41467-019-10823-8⟩
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3023. ⟨10.1038/s41467-019-10823-8⟩
The largest gene families in eukaryotes are subject to allelic exclusion, but mechanisms underpinning single allele selection and inheritance remain unclear. Here, we describe a protein complex sustaining variant surface glycoprotein (VSG) allelic ex
Autor:
Henry Houlden, Thomas Haaf, Pratishtha Varshney, Christian Beetz, Hamid Galehdari, Lucy A Dunbar, Alireza Sedaghat, Richard J.H. Smith, Michael R. Bowl, Aziz El-Amraoui, Kevin T. Booth, David Murphy, Neda Mazaheri, Sandrine Vitry, Kumar N. Alagramam, Ben Fowler, Shruthi VijayKumar, Aboulfazl Rad, Hela Azaiez, Cassidy Petree, Barbara Vona, Sheng-Jia Lin, Gholamreza Shariati, Reza Maroofian, Franz Rüschendorf, Gaurav K. Varshney
Publikováno v:
Human Genetics
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec2c6de213429b2f5213b9170fe9c29
https://doi.org/10.1007/s00439-020-02254-z
https://doi.org/10.1007/s00439-020-02254-z
Autor:
Murielle Chauvel, Adeline Feri, Corinne Maufrais, Mélanie Legrand, Christophe d'Enfert, Timea Marton
Publikováno v:
Genetics
Genetics, 2021, 218 (1), pp.iyab028. ⟨10.1093/genetics/iyab028⟩
Genetics, 2021, 218 (1), pp.iyab028. ⟨10.1093/genetics/iyab028⟩
Genomic rearrangements have been associated with the acquisition of adaptive phenotypes, allowing organisms to efficiently generate new favorable genetic combinations. The diploid genome of Candida albicans is highly plastic, displaying numerous geno
Autor:
Cristina Ballart, Fouad El Baidouri, Anna Fernández-Arévalo, Montserrat Gállego, Patrick Lami, Silvia Tebar, Francine Pratlong, Laurence Lachaud, Alba Abras, Christophe Ravel, Carme Muñoz
Publikováno v:
International Journal for Parasitology
International Journal for Parasitology, Elsevier, 2020, 50 (13), pp.1079-1088. ⟨10.1016/j.ijpara.2020.06.013⟩
INTERNATIONAL JOURNAL FOR PARASITOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
International Journal for Parasitology, Elsevier, 2020, 50 (13), pp.1079-1088. ⟨10.1016/j.ijpara.2020.06.013⟩
INTERNATIONAL JOURNAL FOR PARASITOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Among the 20 or so Leishmania spp. described as pathogenic for humans, those of the Leishmania donovani complex are the exclusive causative agents of systemic and fatal visceral leishmaniasis. Although well studied, the complex is taxonomically contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad08b5262f5801725e5032f88866d59
https://hal.umontpellier.fr/hal-03340965
https://hal.umontpellier.fr/hal-03340965
Autor:
Lluis Quintana-Murci, Antoine Favier, Franck Rapaport, David Neil Cooper, Peter D. Stenson, Etienne Patin, Laurent Abel, Jean-Laurent Casanova, Yufei Luo, Marie Lopez, Antonio Rausell, Yoann Seeleuthner
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, National Academy of Sciences, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
Humans homozygous or hemizygous for variants predicted to cause a loss of function of the corresponding protein do not necessarily present with overt clinical phenotypes. However, the set of effectively dispensable genes in the human genome has not y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150e5a5a473272307710ff538827a274
https://hal.archives-ouvertes.fr/hal-03020429
https://hal.archives-ouvertes.fr/hal-03020429
Autor:
Thomas Bourgeron, Alistair T. Pagnamenta, Jeremy R. Parr, Louise Gallagher, Christine M. Freitag, Jacob A. S. Vorstman, Sean Ennis, Isaac J. Nijman, Fabrice Colas, Kristel R. van Eijk, Bochao Danae Lin, Jurjen J. Luykx, Jelena Medic, Sabine M. Klauck, Elena Maestrini, Astrid M. Vicente, Richard Anney, Guiomar Oliveira, Elena Bacchelli, Hilary Coon, Andreas G. Chiocchetti, William J. Brands
Publikováno v:
Translational Psychiatry
Translational Psychiatry, Nature Pub. Group, 2020, 10 (1), pp.204. ⟨10.1038/s41398-020-00866-7⟩
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Translational Psychiatry, 2020, 10 (1), pp.204. ⟨10.1038/s41398-020-00866-7⟩
Translational Psychiatry, Nature Pub. Group, 2020, 10 (1), pp.204. ⟨10.1038/s41398-020-00866-7⟩
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Translational Psychiatry, 2020, 10 (1), pp.204. ⟨10.1038/s41398-020-00866-7⟩
The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the oc