CYBB c.736C>T ;(p.Q246*)

Variant ID: X-37658269-C-T

NM_000397.3(CYBB):c.736C>T;(p.Q246*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Immunological Aspects of X-Linked Chronic Granulomatous Disease Female Carriers.

Antioxidants (Basel, Switzerland)
Chiriaco, Maria M; Salfa, Irene I; Ursu, Giorgiana Madalina GM; Cifaldi, Cristina C; Di Cesare, Silvia S; Rossi, Paolo P; Di Matteo, Gigliola G; Finocchi, Andrea A
Publication Date: 2021-06-01

Variant appearance in text: CYBB: 736C>T
PubMed Link: 34206017
Variant Present in the following documents:
  • Main text
  • antioxidants-10-00891.pdf
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Thymosin β4 promotes autophagy and repair via HIF-1α stabilization in chronic granulomatous disease.

Life Science Alliance
Renga, Giorgia G; Oikonomou, Vasilis V; Moretti, Silvia S; Stincardini, Claudia C; Bellet, Marina M MM; Pariano, Marilena M; Bartoli, Andrea A; Brancorsini, Stefano S; Mosci, Paolo P; Finocchi, Andrea A; Rossi, Paolo P; Costantini, Claudio C; Garaci, Enrico E; Goldstein, Allan L AL; Romani, Luigina L
Publication Date: 2019-12

Variant appearance in text: CGD: 736C>T
PubMed Link: 31719116
Variant Present in the following documents:
  • Main text
  • LSA-2019-00432.pdf
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Noncanonical Fungal Autophagy Inhibits Inflammation in Response to IFN-γ via DAPK1.

Cell Host & Microbe
Oikonomou, Vasilis V; Moretti, Silvia S; Renga, Giorgia G; Galosi, Claudia C; Borghi, Monica M; Pariano, Marilena M; Puccetti, Matteo M; Palmerini, Carlo A CA; Amico, Lucia L; Carotti, Alessandra A; Prezioso, Lucia L; Spolzino, Angelica A; Finocchi, Andrea A; Rossi, Paolo P; Velardi, Andrea A; Aversa, Franco F; Napolioni, Valerio V; Romani, Luigina L
Publication Date: 2016-12-14

Variant appearance in text: CGD: 736C>T
PubMed Link: 27889463
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CGD: 736C>T
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page