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Akademický článek

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

Autor: J. Boutin, J. Rosier, D. Cappellen, F. Prat, J. Toutain, P. Pennamen, J. Bouron, C. Rooryck, J. P. Merlio, I. Lamrissi-Garcia, G. Cullot, S. Amintas, V. Guyonnet-Duperat, C. Ged, J. M. Blouin, E. Richard, S. Dabernat, F. Moreau-Gaudry, A. Bedel

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)

CRISPR-Cas9 generates double-strand breaks, which pose a threat to genome integrity. Here the authors show loss of heterozygosity in edited hematopoietic progenitor cells.

Externí odkaz: https://doaj.org/article/e2a0368b510f4b0f8a6f33bea02556ca

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Akademický článek

Identification of a novel alpha1-antitrypsin variant

Autor: Camille de Seynes, C. Ged, H. de Verneuil, N. Chollet, M. Balduyck, C. Raherison

Publikováno v: Respiratory Medicine Case Reports, Vol 20, Iss C, Pp 64-67 (2017)

Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal

Externí odkaz: https://doaj.org/article/b22fcb9ac5ee4e038b7f9efc1486df5c

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Syndrome of the trephined: When bone becomes the cure

Autor: C. Ged, E. Samson, L. Riffaud

Publikováno v: Neurochirurgie
Neurochirurgie, Elsevier Masson, 2022, ⟨10.1016/j.neuchi.2022.01.003⟩
Neurochirurgie, 2022, 68 (5), pp.544-545. ⟨10.1016/j.neuchi.2022.01.003⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9f2f47aeb52fda7e4a05a779b4c41b
https://hal.archives-ouvertes.fr/hal-03631169

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Akademický článek

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Predictive capability of chlorination disinfection byproducts models

Autor: Paul A. Chadik, Evan C. Ged, Treavor H. Boyer

Publikováno v: Journal of Environmental Management. 149:253-262

There are over 100 models that have been developed for predicting trihalomethanes (THMs), haloacetic acids (HAAs), bromate, and unregulated disinfection byproducts (DBPs). Until now no publication has evaluated the variability of previous THM and HAA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e71a3456a08c2d5cb2c67d9db84db41
https://doi.org/10.1016/j.jenvman.2014.10.014

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Effect of seawater intrusion on formation of bromine-containing trihalomethanes and haloacetic acids during chlorination

Autor: Evan C. Ged, Treavor H. Boyer

Publikováno v: Desalination. 345:85-93

This study quantified the formation and speciation of halogenated organic disinfection byproducts (DBPs) during chlorination as a function of seawater intrusion by spiking fresh groundwater with 0.1% to 2% seawater by volume. The four chlorine- and b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::502b5f8d05340b03b84568749d663547
https://doi.org/10.1016/j.desal.2014.04.021

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A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

Autor: H. de Verneuil, Jacqueline Woolf, Michael Norman Badminton, Sharon D. Whatley, Jean Charles Deybach, R. P. Katugampola, S. Hanneken, Nicola G. Mason, Hervé Puy, C. Ged, Xiaoye Schneider-Yin, Alexander Vincent Anstey, Andrew Yule Finlay, E. Minder

Publikováno v: British Journal of Dermatology. 167:888-900

Background Congenital erythropoietic porphyria (CEP) is an autosomal recessive photomutilating porphyria with onset usually in childhood, where haematological complications determine prognosis. Due to its extreme rarity and clinical heterogeneity, ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca32e10d897cf215a83a9b531135eadf
https://doi.org/10.1111/j.1365-2133.2012.11154.x

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Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases

Autor: Hervé Puy, Andrew Yule Finlay, S. Hanneken, H. de Verneuil, Jean Charles Deybach, Nicola G. Mason, Jacqueline Woolf, Sharon D. Whatley, C. Ged, Alexander Vincent Anstey, R. P. Katugampola, Michael Norman Badminton, Xiaoye Schneider-Yin, E. Minder

Publikováno v: British Journal of Dermatology. 167:901-913

Background: Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen III synthase (UROS). Its predominant characteristics include bullous cutaneous photosensitivity to vi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::32fcbd9a9415b545a374d2957e62c468
https://doi.org/10.1111/j.1365-2133.2012.11160.x

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