Výsledky vyhledávání - "MESH: Inheritance Patterns"

Small-RNA-mediated transgenerational silencing of histone genes impairs fertility in piRNA mutants

Autor: Blaise Li, Martino Ugolini, Damarys Loew, Germano Cecere, Aleksei Samolygo, Céline Didier, Eric Cornes, Meetali Singh, Giorgia Barucci, Piergiuseppe Quarato, Florent Dingli

Publikováno v: Nature cell biology
Nature Cell Biology
Nature Cell Biology, Nature Publishing Group, 2020, 22 (2), pp.235-245. ⟨10.1038/s41556-020-0462-7⟩
Nature Cell Biology, 2020, 22 (2), pp.235-245. ⟨10.1038/s41556-020-0462-7⟩

International audience; PIWI-interacting RNAs (piRNAs) promote fertility in many animals. However, whether this is due to their conserved role in repressing repetitive elements (REs) remains unclear. Here, we show that the progressive loss of fertili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983b418c96155c11b9d0637d29c2e4f8
https://doi.org/10.1038/s41556-020-0462-7

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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2021, 58 (8), pp.570-578. ⟨10.1136/jmedgenet-2020-107150⟩
Journal of Medical Genetics, 58, 570-578
Journal of Medical Genetics, 58, 8, pp. 570-578

BackgroundInherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c418790cf0e92ff05817a63ae7d81a9
https://hal.science/hal-03652615

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The Many Faces of Epigenetics Oxford, December 2017

Autor: Paola B. Arimondo, Anouk Barberousse, Gaëlle Pontarotti

Publikováno v: Epigenetics
Epigenetics, Taylor & Francis, 2019, 14 (6), pp.623-631. ⟨10.1080/15592294.2019.1595298⟩
Epigenetics, 2019, 14 (6), pp.623-631. ⟨10.1080/15592294.2019.1595298⟩

International audience; The conference ‘The Many Faces of Epigenetics: Multidisciplinary Perspectives “over” Genetics’ was held in Oxford (6–8 December 2017) and offered a valuable window into the domain of Epigenetics and its promises. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08c8b4c8093f26ee262780d0043b50ff
https://hal-pasteur.archives-ouvertes.fr/pasteur-03026588/document

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Impact des discours de la mère et des grands-mères d’une femme enceinte primigeste nullipare sur la représentation de son accouchement : à partir de 15 entretiens

Autor: Delanoë, Julia

Publikováno v: Gynécologie et obstétrique. 2017

Objectives: the representation a woman has of her delivery gradually builds over time, depending on what she may hear about it. A pregnant woman that hears stories about delivery may make the connection with her own upcoming delivery, especially if t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::4404ae888be5bc9879cfb9976022b2f5
https://dumas.ccsd.cnrs.fr/dumas-01859055/file/memoire_esfbaudelocque_delanoe.pdf

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Genome-defence small RNAs exapted for epigenetic mating-type inheritance

Publikováno v: Stem Cells and Development
Stem Cells and Development, 2014, 509 (7501), pp.447-52. ⟨10.1038/nature13318⟩
Stem Cells and Development, Mary Ann Liebert, 2014, 509 (7501), pp.447-52. ⟨10.1038/nature13318⟩

International audience; In the ciliate Paramecium, transposable elements and their single-copy remnants are deleted during the development of somatic macronuclei from germline micronuclei, at each sexual generation. Deletions are targeted by scnRNAs,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86659f69655bb8805b3a5a781def38df
https://doi.org/10.1038/nature13318

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Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations

Autor: Franck Sturtz, Jean-Michel Vallat, Robert A. Ouvrier, Corinne Magdelaine, Danqing Zhu, S. Grew, Monique M. Ryan, Garth A. Nicholson

Publikováno v: Neurology
Neurology, American Academy of Neurology, 2008, 70 (19), pp.1678-81. ⟨10.1212/01.wnl.0000311275.89032.22⟩

Objective: Severe early-onset axonal neuropathy (SEOAN) is a heterogeneous phenotype first delineated by Ouvrier et al., characterized by progressive axonal degeneration with gait problems often progressing to wheelchair requirement and later respira

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfecb62c3f66e961dda6accac29d5f0
https://doi.org/10.1212/01.wnl.0000311275.89032.22

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Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome

Autor: Sadowski, Samantha, Chassaing, Nicolas, Gaj, Zuzanna, Czichos, Ewa, Wilczynski, Jan, Nowakowska, Dorota

Publikováno v: Birth Defects Research
Birth Defects Research, Wiley, 2017, 109 (4), pp.251-253. ⟨10.1002/bdra.23465⟩

International audience; Background: The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::800f77e7ed4d0e01ed307d6c52a1d818
https://pubmed.ncbi.nlm.nih.gov/28398665

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Increased power to detect gene-environment interaction using siblings controls.: GxE interaction and siblings controls

Autor: Nadine Andrieu, Alisa M. Goldstein, Marie-Gabrielle Dondon

Publikováno v: Annals of Epidemiology
Annals of Epidemiology, Elsevier Masson, 2005, 15 (9), pp.705-11. ⟨10.1016/j.annepidem.2005.01.002⟩

International audience; PURPOSE: Interest is increasing in studying gene-environment (G x E) interaction in disease etiology. Study designs using related controls as a more appropriate control group for evaluating G x E interactions have been propose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb9a3267f716a13cd58ded91a11d4308
https://doi.org/10.1016/j.annepidem.2005.01.002

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Transposons, environmental changes, and heritable induced phenotypic variability

Autor: Laura Fanti, Lucia Piacentini, Gino Palumbo, Sergio Pimpinelli, Valeria Specchia, Maria Pia Bozzetti, Maria Berloco

Publikováno v: Chromosoma
Chromosoma, Springer Verlag, 2014, 123 (4), pp.345-54. ⟨10.1007/s00412-014-0464-y⟩

International audience; The mechanisms of biological evolution have always been, and still are, the subject of intense debate and modeling. One of the main problems is how the genetic variability is produced and maintained in order to make the organi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::807e1061d2c58a0c179772c9e7d223ff
https://hdl.handle.net/11587/385290

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Heritable variation in an extended phenotype: the case of a parasitoid manipulated by a virus

Autor: Julien, Martinez, F, Fleury, J, Varaldi

Publikováno v: Journal of Evolutionary Biology
Journal of Evolutionary Biology, 2012, 25 (1), pp.54-65. ⟨10.1111/j.1420-9101.2011.02405.x⟩
Journal of Evolutionary Biology, Wiley, 2011,--, pp.1-12
Journal of Evolutionary Biology, Wiley, 2012, 25 (1), pp.54-65. ⟨10.1111/j.1420-9101.2011.02405.x⟩

International audience; In host-symbiont interactions, the genes of both host and symbiont can influence phenotypic traits. In the context of a conflict of interest, fitness-related traits are subjected to opposing selective pressures in the genomes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a86bfa895d416c485e0988ca46d11a7c
https://hal.science/hal-00965754

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