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Добірка наукової літератури з теми "Xeroderma pigmentosum – Génétique"
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Статті в журналах з теми "Xeroderma pigmentosum – Génétique"
Espi, P., S. Parajuli, U. Paudel, A. Grange, D. Giacchero, M. Colomb, N. Soufir, and F. Grange. "Xeroderma pigmentosum : première étude clinique et génétique au Népal." Annales de Dermatologie et de Vénéréologie 142, no. 12 (December 2015): S523—S524. http://dx.doi.org/10.1016/j.annder.2015.10.217.
Повний текст джерелаRasso, A., H. Baybay, N. Aqil, S. Elloudi, Z. Douhi, L. Bouguenouch, and F. Z. Mernissi. "Étude génétique XPC et XPA des patients atteints de xeroderma pigmentosum d’une population marocaine." Annales de Dermatologie et de Vénéréologie 146, no. 12 (December 2019): A248—A249. http://dx.doi.org/10.1016/j.annder.2019.09.391.
Повний текст джерелаGuérendo, Peggy Mboli-Goumba, Boh Fanta Diané, Nadège Agbessi Mekoun, Christiane Koudoukpo, Fabrice Akpadja, and Bérénice Dégboé. "Expérience de prise en charge de Xeroderma Pigmentosum au service de Dermatologie-vénérologie à Cotonou." European Scientific Journal, ESJ 20, no. 15 (May 31, 2024): 77. http://dx.doi.org/10.19044/esj.2024.v20n15p77.
Повний текст джерелаCoin, F., JC Marinoni, and JM Egly. "Le xeroderma pigmentosum, ou comment l'absence d'interaction entre une hélicase et son régulateur est à l'origine d'une maladie génétique." médecine/sciences 14, no. 11 (1998): 1289. http://dx.doi.org/10.4267/10608/960.
Повний текст джерелаSarasin, A., G. Renault, C. Blanchet-Bardon, J. Boué, and Y. Dumez. "Le Xeroderma pigmentosum : caractéristiques cliniques génétiques et cellulaires. Développement d'un test anténatal." médecine/sciences 4, no. 10 (1988): 608. http://dx.doi.org/10.4267/10608/3756.
Повний текст джерелаJerbi, M., M. BenRekaya, C. Naouali, M. Jones, H. Tounsi, O. Messaoud, M. Chargui, et al. "Profils cliniques et génétiques de patients atteints de xeroderma pigmentosum forme-C : à propos de 64 patients tunisiens." Annales de Dermatologie et de Vénéréologie 142, no. 12 (December 2015): S600. http://dx.doi.org/10.1016/j.annder.2015.10.374.
Повний текст джерелаMoreira, Danilo José Silva, Juliana Brito da Fonseca, Karoline Rossi, Suzana dos Santos Vasconcelos, Vinicius Faustino Lima de Oliveira, Claudio Alberto Gellis de Mattos Dias, Euzébio de Oliveira, et al. "Aspects généraux de Xeroderma pigmentosum: un examen." Revista Científica Multidisciplinar Núcleo do Conhecimento, March 26, 2020, 114–26. http://dx.doi.org/10.32749/nucleodoconhecimento.com.br/sante/generaux-de-xeroderma.
Повний текст джерелаMoreira, Danilo José Silva, Juliana Brito da Fonseca, Karoline Rossi, Suzana dos Santos Vasconcelos, Vinicius Faustino Lima de Oliveira, Claudio Alberto Gellis de Mattos Dias, Euzébio Oliveira, et al. "Présence du sujet Xeroderma Pigmentoso dans des articles scientifiques publiés entre 2003 et 2018." Revista Científica Multidisciplinar Núcleo do Conhecimento, March 26, 2020, 127–34. http://dx.doi.org/10.32749/nucleodoconhecimento.com.br/sante/sujet-xeroderma.
Повний текст джерелаДисертації з теми "Xeroderma pigmentosum – Génétique"
Dupuy, Aurélie. "Développement d’un modèle de correction génétique du xeroderma pigmentosum par recombinaison homologue ciblée par des endonucléases ingéniérées." Thesis, Paris 11, 2012. http://www.theses.fr/2012PA11T097.
Повний текст джерелаXeroderma pigmentosum (XP) is a rare inherited genetic disorder characterized by an UV hypersensitivity and a severe predisposition to skin cancers. Cells from XP patients are deficient in nucleotide excision repair (NER) of UV‐induced DNA lesions. Several complementation groups have been identified in the XP syndrome and the XP-C group represents the majority of XP patients around the world. During my PhD work, I developed a model of targeted correction by homologous recombination (HR) in order to correct a deletion of two nucleotides in the ninth exon in XPC gene leading to a premature stop codon. To stimulate HR, I used two types of engineered endonucleases : meganucleases and TALEN. I observed that the target methylation status could affect the endonuclease activities and therefore XPC gene correction. Nervertheless, I developed two approaches to overcome this methylation sensitivity : use of a demethylating agent (5-aza-2-deoxycytidine (5azadC)) or a specific engineering of TALEN. Using 5azadC with meganuclease allowed to stimulate the cutting frequency by nearly 20 fold in XPC fibroblasts and the engineered TALEN allowed a 40 fold-increase in frequency. With both strategies I obtained genetic correction events by repair matrix introduction in the targeted locus with a near 3% frequency. The characterization of corrected clones with the XPC TALEN shows genomic correction in the ninth exon, a restoration of the XPC protein expression and cell survival following UV exposure, thus demonstrating fully recovered normal repair activity by NER. This study represents the first evidence of genetic correction of XPC-deficient cells by a targeted approach
Warrick, Emilie. "Caractérisation et correction génétique des cellules cutanées de patients atteints de xeroderma pigmentosum de groupe C : un rôle pour XPC au-delà de la NER." Paris 6, 2010. http://www.theses.fr/2010PA066139.
Повний текст джерелаDubaele, Sandy. "Importance de la sous-unité XPD pour l'architecture et les activités du facteur de transcription-réparation TFIIH." Université Louis Pasteur (Strasbourg) (1971-2008), 2003. http://www.theses.fr/2003STR13136.
Повний текст джерелаCahn, Alice. "Fonction et régulation de l’ADN polymérase spécialisée eta dans la stabilité des régions intrinsèquement difficiles à répliquer." Electronic Thesis or Diss., université Paris-Saclay, 2020. http://www.theses.fr/2020UPASL061.
Повний текст джерелаComplete and accurate DNA replication is crucial to transfer correct genetic information to the daughter cells. Various obstacles can interfere with the progression of the replication machinery, threatening genome integrity. Specialized error-prone translesion DNA polymerases (TLS polymerases) assist the replicative polymerases to replicate across DNA lesions. During my PhD I characterized the contribution of TLS pol eta (polη), best known for its role in preventing UV-induced mutagenesis, during unperturbed replication. Polη was shown to promote the stability of the common fragile sites and associates with the replisome in unchallenged S phase. However, the kind of replication barriers requiring pol eta and the consequences of its absence on the replication of these regions were unclear. My results show that polη is recruited at a subset of replication forks all along the S phase and that polη defect modifies the replication timing of genomic regions enriched in large transcribed genes, where transcription-replication conflicts (TRCs) are more likely to occur. Overall, I show that polη recruitment at the replication fork is transcription-dependent, and that pol eta plays a role in the coping with TRCs. Altogether, these results highlight a new role for an error-prone DNA polymerase in protecting the genome stability
Zachayus, Amélie. "Cellular study of the transcription/DNA repair factor TFIIH during nucleotide excision repair." Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ034.
Повний текст джерелаXeroderma Pigmentosum (XP), sometimes associated with Cockayne syndrome (XP/CS), and Trichothiodystrophy (TTD) are rare genetic disorders characterized by photosensitivity due to mutations in nucleotide excision repair (NER) factors, particularly the TFIIH factor. These mutations lead to defective repair of UV-induced DNA lesions. While significant advances in understanding the functions of TFIIH have been made, the lack of cellular models for studies complicates research. My thesis focused on developing new cellular models by fusing certain subunits of TFIIH to GFP. Using multiphoton laser technology, I induced DNA damage similar to that caused by UV and measured the accumulation of TFIIH on these lesions. My results show that core-TFIIH and CAK exhibit different recruitment kinetics. Additionally, mutations affecting the helicase XPD and inhibition of CAK's kinase activity reduce the recruitment of TFIIH to the lesions
Zadorin, Anton. "Le complexe TFIIH dans la transcription effectuée par l'ARN polymèrase II et l'ARN polymèrase III." Phd thesis, Université de Strasbourg, 2012. http://tel.archives-ouvertes.fr/tel-00759395.
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