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Extended clinical and genetic spectrum associated with biallelic .

Blood advances

Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P.
PMID: 29296694
Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29.

Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from being recognized as DNA breaks by the DNA repair machinery. RTEL1 is a DNA helicase required...

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Touzot F, Kermasson L, Jullien L, et al. Extended clinical and genetic spectrum associated with biallelic . Blood Adv. 2016;1(1):36-46doi: 10.1182/bloodadvances.2016001313.
Touzot, F., Kermasson, L., Jullien, L., Moshous, D., Ménard, C., Ikincioğullari, A., Doğu, F., Sari, S., Giacobbi-Milet, V., Etzioni, A., Soulier, J., Londono-Vallejo, A., Fischer, A., Callebaut, I., de Villartay, J. P., Leblanc, T., Kannengiesser, C., & Revy, P. (2016). Extended clinical and genetic spectrum associated with biallelic . Blood advances, 1(1), 36-46. https://doi.org/10.1182/bloodadvances.2016001313
Touzot, Fabien, et al. "Extended clinical and genetic spectrum associated with biallelic ." Blood advances vol. 1,1 (2016): 36-46. doi: https://doi.org/10.1182/bloodadvances.2016001313
Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P. Extended clinical and genetic spectrum associated with biallelic . Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29. PMID: 29296694; PMCID: PMC5744058.
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Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran.

Italian journal of pediatrics

Sadeghi-Shanbestari M, Ansarin K, Maljaei SH, Rafeey M, Pezeshki Z, Kousha A, Baradaran R, Casanova JL, Feinberg J, de Villartay JP.
PMID: 20030825
Ital J Pediatr. 2009 Dec 23;35:42. doi: 10.1186/1824-7288-35-42.

BACKGROUND: Adverse reactions induced by BCG vaccination are rare, disseminated mycobacterial BCG infection in particular, which is often fatal and results from impaired immunity. The aim of this study is to determine the nature of the immunodeficiences in patients...

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Sadeghi-Shanbestari M, Ansarin K, Maljaei SH, et al. Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran. Ital J Pediatr. 2009;35:42doi: 10.1186/1824-7288-35-42.
Sadeghi-Shanbestari, M., Ansarin, K., Maljaei, S. H., Rafeey, M., Pezeshki, Z., Kousha, A., Baradaran, R., Casanova, J. L., Feinberg, J., & de Villartay, J. P. (2009). Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran. Italian journal of pediatrics, 3542. https://doi.org/10.1186/1824-7288-35-42
Sadeghi-Shanbestari, Mahnaz, et al. "Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran." Italian journal of pediatrics vol. 35 (2009): 42. doi: https://doi.org/10.1186/1824-7288-35-42
Sadeghi-Shanbestari M, Ansarin K, Maljaei SH, Rafeey M, Pezeshki Z, Kousha A, Baradaran R, Casanova JL, Feinberg J, de Villartay JP. Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran. Ital J Pediatr. 2009 Dec 23;35:42. doi: 10.1186/1824-7288-35-42. PMID: 20030825; PMCID: PMC2806263.
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Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia.

Oncotarget

Lesport E, Ferster A, Biver A, Roch B, Vasquez N, Jabado N, Vives FL, Revy P, Soulier J, de Villartay JP.
PMID: 29423082
Oncotarget. 2017 Dec 17;9(3):3779-3793. doi: 10.18632/oncotarget.23375. eCollection 2018 Jan 09.

The Fanconi anemia (FA) pathway is implicated in the repair of DNA interstrand crosslinks (ICL). In this process, it has been shown that FA factors regulate the choice for DNA double strand break repair towards homologous recombination (HR). As...

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Lesport E, Ferster A, Biver A, et al. Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia. Oncotarget. 2017;9(3):3779-3793doi: 10.18632/oncotarget.23375.
Lesport, E., Ferster, A., Biver, A., Roch, B., Vasquez, N., Jabado, N., Vives, F. L., Revy, P., Soulier, J., & de Villartay, J. P. (2018). Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia. Oncotarget, 9(3), 3779-3793. https://doi.org/10.18632/oncotarget.23375
Lesport, Emilie, et al. "Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia." Oncotarget vol. 9,3 (2018): 3779-3793. doi: https://doi.org/10.18632/oncotarget.23375
Lesport E, Ferster A, Biver A, Roch B, Vasquez N, Jabado N, Vives FL, Revy P, Soulier J, de Villartay JP. Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia. Oncotarget. 2017 Dec 17;9(3):3779-3793. doi: 10.18632/oncotarget.23375. eCollection 2018 Jan 09. PMID: 29423082; PMCID: PMC5790499.
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Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID.

Molecular therapy. Methods & clinical development

Charrier S, Lagresle-Peyrou C, Poletti V, Rothe M, Cédrone G, Gjata B, Mavilio F, Fischer A, Schambach A, de Villartay JP, Cavazzana M, Hacein-Bey-Abina S, Galy A.
PMID: 31720302
Mol Ther Methods Clin Dev. 2019 Sep 13;15:232-245. doi: 10.1016/j.omtm.2019.08.014. eCollection 2019 Dec 13.

Genetic deficiency of the nuclease DCLRE1C/Artemis causes radiosensitive severe combined immunodeficiency (RS-SCID) with lack of peripheral T and B cells and increased sensitivity to ionizing radiations. Gene therapy based on transplanting autologous gene-modified hematopoietic stem cells could significantly improve...

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Charrier S, Lagresle-Peyrou C, Poletti V, et al. Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID. Mol Ther Methods Clin Dev. 2019;15:232-245doi: 10.1016/j.omtm.2019.08.014.
Charrier, S., Lagresle-Peyrou, C., Poletti, V., Rothe, M., Cédrone, G., Gjata, B., Mavilio, F., Fischer, A., Schambach, A., de Villartay, J. P., Cavazzana, M., Hacein-Bey-Abina, S., & Galy, A. (2019). Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID. Molecular therapy. Methods & clinical development, 15232-245. https://doi.org/10.1016/j.omtm.2019.08.014
Charrier, Sabine, et al. "Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID." Molecular therapy. Methods & clinical development vol. 15 (2019): 232-245. doi: https://doi.org/10.1016/j.omtm.2019.08.014
Charrier S, Lagresle-Peyrou C, Poletti V, Rothe M, Cédrone G, Gjata B, Mavilio F, Fischer A, Schambach A, de Villartay JP, Cavazzana M, Hacein-Bey-Abina S, Galy A. Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID. Mol Ther Methods Clin Dev. 2019 Sep 13;15:232-245. doi: 10.1016/j.omtm.2019.08.014. eCollection 2019 Dec 13. PMID: 31720302; PMCID: PMC6838972.
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Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.

Blood

Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero AJ, Oleastro M, Abdo C, de Villartay JP, Géli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P.
PMID: 35007328
Blood. 2022 Jan 10; doi: 10.1182/blood.2021010791. Epub 2022 Jan 10.

Inherited bone marrow failure syndromes (IBMFS) represent a group of disorders typified by impaired production of one or several blood cell types. The telomere biology disorders dyskeratosis congenita (DC) and its severe variant Høyeraal-Hreidarsson (HH) syndrome are rare IBMFS...

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Kermasson L, Churikov D, Awad A, et al. Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. Blood. 2022;doi: 10.1182/blood.2021010791.
Kermasson, L., Churikov, D., Awad, A., Smoom, R., Lainey, E., Touzot, F., Audebert-Bellanger, S., Haro, S., Roger, L., Costa, E., Mouf, M., Bottero, A. J., Oleastro, M., Abdo, C., de Villartay, J. P., Géli, V., Tzfati, Y., Callebaut, I., Danielian, S., Soares, G., Kannengiesser, C., & Revy, P. (2022). Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. Blood, . https://doi.org/10.1182/blood.2021010791
Kermasson, Laëtitia, et al. "Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects." Blood vol. (2022). doi: https://doi.org/10.1182/blood.2021010791
Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero AJ, Oleastro M, Abdo C, de Villartay JP, Géli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P. Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. Blood. 2022 Jan 10; doi: 10.1182/blood.2021010791. Epub 2022 Jan 10. PMID: 35007328.
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Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.

Cell discovery

El-Daher MT, Cagnard N, Gil M, Da Cruz MC, Leveau C, Sepulveda F, Zarhrate M, Tores F, Legoix P, Baulande S, de Villartay JP, Almouzni G, Quivy JP, Fischer A, de Saint Basile G.
PMID: 30455981
Cell Discov. 2018 Nov 13;4:61. doi: 10.1038/s41421-018-0061-y. eCollection 2018.

A loss-of-function mutation in tetratricopeptide repeat domain 7A (TTC7A) is a recently identified cause of human intestinal and immune disorders. However, clues to related underlying molecular dysfunctions remain elusive. It is now shown based on the study of TTC7A-deficient...

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El-Daher MT, Cagnard N, Gil M, et al. Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure. Cell Discov. 2018;4:61doi: 10.1038/s41421-018-0061-y.
El-Daher, M. T., Cagnard, N., Gil, M., Da Cruz, M. C., Leveau, C., Sepulveda, F., Zarhrate, M., Tores, F., Legoix, P., Baulande, S., de Villartay, J. P., Almouzni, G., Quivy, J. P., Fischer, A., & de Saint Basile, G. (2018). Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure. Cell discovery, 461. https://doi.org/10.1038/s41421-018-0061-y
El-Daher, Marie-Therese, et al. "Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure." Cell discovery vol. 4 (2018): 61. doi: https://doi.org/10.1038/s41421-018-0061-y
El-Daher MT, Cagnard N, Gil M, Da Cruz MC, Leveau C, Sepulveda F, Zarhrate M, Tores F, Legoix P, Baulande S, de Villartay JP, Almouzni G, Quivy JP, Fischer A, de Saint Basile G. Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure. Cell Discov. 2018 Nov 13;4:61. doi: 10.1038/s41421-018-0061-y. eCollection 2018. PMID: 30455981; PMCID: PMC6232119.
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Showing 1 to 6 of 6 entries