Zobrazeno 1 - 10
of 40
pro vyhledávání: '"DCLRE1C Gene"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Here, we report a case of rubella virus-induced granulomatous dermatitis in a young girl with immunodeficiency caused by DCLRE1C gene mutations. The patient was a 6-year-old girl who presented with multiple erythematous plaques on the face and limbs.
Externí odkaz:
https://doaj.org/article/2ec279f34a6a4d5f9a9cedcf2bf12353
Autor:
Feifan Xiao, Yulan Lu, Bingbing Wu, Bo Liu, Gang Li, Ping Zhang, Qinhua Zhou, Jinqiao Sun, Huijun Wang, Wenhao Zhou
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Next-generation sequencing (NGS) has been used to detect severe combined immunodeficiency (SCID) in patients, and some patients with DNA cross-link repair 1C (DCLRE1C) variants have been identified. Moreover, some compound variants, such as copy numb
Externí odkaz:
https://doaj.org/article/0cff36ccc492473e97548499929a17dc
Autor:
Marcin Bielinski, Hannah T Baddock, J.A. Newman, S.M.M. Mukhopadhyay, Peter J. McHugh, Christopher J. Schofield, Opher Gileadi, Angeline E Gavard, Adam A Dannerfjord, Yuliana Yosaatmadja
Publikováno v:
Nucleic Acids Research
Artemis (SNM1C/DCLRE1C) is an endonuclease that plays a key role in development of B- and T-lymphocytes and in dsDNA break repair by non-homologous end-joining (NHEJ). Artemis is phosphorylated by DNA-PKcs and acts to open DNA hairpin intermediates g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c17e074069329b662c5ea0feaf7a5aa
https://doi.org/10.1093/nar/gkab693
https://doi.org/10.1093/nar/gkab693
Akademický článek
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Autor:
Meek, Katheryn
Publikováno v:
Nucleic Acids Research
As its name implies, the DNA dependent protein kinase (DNA-PK) requires DNA double-stranded ends for enzymatic activation. Here, I demonstrate that hairpinned DNA ends are ineffective for activating the kinase toward many of its well-studied substrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5428f9fccd93f3e88d99ef090c8517
https://doi.org/10.1093/nar/gkaa614
https://doi.org/10.1093/nar/gkaa614
Autor:
Steven Strubbe, Marieke De Bruyne, Ulrich Pannicke, Elien Beyls, Bart Vandekerckhove, Georges Leclercq, Elfride De Baere, Victoria Bordon, Anne Vral, Klaus Schwarz, Filomeen Haerynck, Tom Taghon
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Frontiers in Immunology
FRONTIERS IN IMMUNOLOGY
Frontiers in Immunology
FRONTIERS IN IMMUNOLOGY
Severe Combined Immune Deficiency (SCID) is a primary deficiency of the immune system in which opportunistic and recurring infections are often fatal during neonatal or infant life. SCID is caused by an increasing number of genetic defects that induc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf0f17c4981276175a480c2d0c40b67
https://www.frontiersin.org/articles/10.3389/fimmu.2021.674226/full
https://www.frontiersin.org/articles/10.3389/fimmu.2021.674226/full
Autor:
Mariya Kozenko, Dennis E. Bulman, Pranesh Chakraborty, Noreen Choe, Kristin D. Kernohan, Rae Brager, Lauren Brick
Publikováno v:
LymphoSign Journal. 7:46-48
Background: Artemis enzyme, encoded by the DCLRE1C gene, is essential to V(D)J recombination in both T and B lymphocytes. Artemis functions as an important component of the nonhomologous end-joining DNA double-strand break repair pathway. Artemis def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3a50471b6ec97aa5a9bffae7d338dbd
https://doi.org/10.14785/lymphosign-2020-0001
https://doi.org/10.14785/lymphosign-2020-0001
Akademický článek
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Autor:
Samideh Khoei, Elham Alipour Fayez, Seyedeh Marzeyeh Mahmoudi, Shahram Teimourian, Fatemeh Farajihaye Qazvini, Matin Vesaltalab
Publikováno v:
Immunobiology. 225(3)
Severe combined immunodeficiency disease (SCID) is a rare inherited severe immunodeficiency, in which functions of T cells and B cells are impaired. SCID is inherited either in X-linked recessive, or autosomal recessive forms, and is either radiosens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::315b480464f1b8a0ff63f27ddefdd815
https://pubmed.ncbi.nlm.nih.gov/32517885
https://pubmed.ncbi.nlm.nih.gov/32517885
Akademický článek
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