关注
Francesca Fusco
Francesca Fusco
IGB-CNR, Istituto di Genetica e Biofisica ABT CNR
在 igb.cnr.it 的电子邮件经过验证
标题
引用次数
引用次数
年份
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), eabd4585, 2020
25552020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ...
Science 370 (6515), eabd4570, 2020
22092020
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
4762021
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3562021
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation
F Fusco, T Bardaro, G Fimiani, V Mercadante, MG Miano, G Falco, A Israël, ...
Human molecular genetics 13 (16), 1763-1773, 2004
1982004
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ...
Proceedings of the National Academy of Sciences 119 (21), 2022
1422022
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
F Fusco, A Pescatore, E Bal, A Ghoul, M Paciolla, MB Lioi, M D'Urso, ...
Human mutation 29 (5), 595-604, 2008
1352008
NF-κB-related genetic diseases
G Courtois, A Smahi
Cell Death & Differentiation 13 (5), 843-851, 2006
1142006
Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
MI Conte, A Pescatore, M Paciolla, E Esposito, MG Miano, MB Lioi, ...
Human mutation 35 (2), 165-177, 2014
1032014
Clinical diagnosis of incontinentia pigmenti in a cohort of male patients
F Fusco, G Fimiani, G Tadini, MV Ursini
Journal of the American Academy of Dermatology 56 (2), 264-267, 2007
962007
Incontinentia pigmenti: report on data from 2000 to 2013
F Fusco, M Paciolla, MI Conte, A Pescatore, E Esposito, P Mirabelli, ...
Orphanet Journal of Rare Diseases 9, 1-5, 2014
952014
EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation
F Fusco, A Pescatore, MI Conte, P Mirabelli, M Paciolla, E Esposito, ...
International reviews of immunology 34 (6), 445-459, 2015
922015
HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur …
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), eabd4585, 2020
912020
Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population
M Adriani, A Martinez‐Mir, F Fusco, R Busiello, J Frank, S Telese, ...
Annals of human genetics 68 (3), 265-268, 2004
902004
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti
H Sebban-Benin, A Pescatore, F Fusco, V Pascuale, J Gautheron, ...
Human molecular genetics 16 (23), 2805-2815, 2007
752007
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
F Fusco, M Paciolla, F Napolitano, A Pescatore, I D'Addario, E Bal, ...
Human molecular genetics 21 (6), 1260-1271, 2012
652012
HGID Lab
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
NIAID-USUHS Immune Response to COVID Group, 2020
632020
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-κB/p65 activation during in vitro oocyte maturation and early embryogenesis
M Paciolla, R Boni, F Fusco, A Pescatore, L Poeta, MV Ursini, MB Lioi, ...
Human reproduction 26 (5), 1191-1201, 2011
602011
Incontinencia pigmenti
F Cammarata-Scalisi, F Fusco, MV Ursini
Actas dermo-sifiliograficas 110 (4), 273-278, 2019
442019
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
L Poeta, F Fusco, D Drongitis, C Shoubridge, G Manganelli, S Filosa, ...
The American Journal of Human Genetics 92 (1), 114-125, 2013
442013
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