Detalhe da pesquisa
1.
Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.
Int J Mol Sci
; 23(3)2022 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163099
2.
COMMD7 as a novel NEMO interacting protein involved in the termination of NF-κB signaling.
J Cell Physiol
; 231(1): 152-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26060140
3.
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
Am J Hum Genet
; 92(1): 114-25, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246292
4.
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
Clin Immunol
; 161(2): 131-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307434
5.
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Hum Mutat
; 35(2): 165-77, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24339369
6.
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
Hum Mol Genet
; 21(6): 1260-71, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22121116
7.
New Insight Into the Pathogenesis of Cerebral Small-Vessel Diseases.
Stroke
; 48(2): 520-527, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082670
8.
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.
Hum Mol Genet
; 19(16): 3138-49, 2010 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20529958
9.
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
J Allergy Clin Immunol
; 137(5): 1591-1595.e4, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26632527
10.
Differential dysregulation of granule subsets in WASH-deficient neutrophil leukocytes resulting in inflammation.
Nat Commun
; 13(1): 5529, 2022 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130971
11.
Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin.
J Biol Chem
; 285(22): 16951-7, 2010 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20308062
12.
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.
Hum Reprod
; 26(11): 3186-96, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21859812
13.
Novel STAT1 gain-of-function mutation and suppurative infections.
Pediatr Allergy Immunol
; 27(2): 220-3, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26467763
14.
Methods to Study the Effect of IKK Inhibition on TNF-Inducing Apoptosis and Necroptosis in Cultured Cells.
Methods Mol Biol
; 2366: 243-254, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34236642
15.
Life, death, and autophagy in cancer: NF-κB turns up everywhere.
Cell Death Dis
; 11(3): 210, 2020 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32231206
16.
Author Correction: Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells.
Sci Rep
; 10(1): 6776, 2020 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303693
17.
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.
Hum Mutat
; 30(9): 1284-91, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19603533
18.
NESCA: a new NEMO/IKKgamma and TRAF6 interacting protein.
J Cell Physiol
; 220(2): 410-7, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19365808
19.
The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.
Eur J Hum Genet
; 27(10): 1509-1518, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231133
20.
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Hum Mutat
; 29(5): 595-604, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18350553