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注意：仅列出部分参考文献，下载原文获取全部文献信息。Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti
Helene Sebban-Benin et al.
HUMAN MOLECULAR GENETICS (2007)
Epithelial NEMO links innate immunity to chronic intestinal inflammation
Arianna Nenci et al.
NATURE (2007)
Deletion of NEMO/IKKγ in liver parenchymal cells causes steatohepatitis and hepatocellular carcinoma
Tom Luedde et al.
CANCER CELL (2007)
Clinical diagnosis of incontinentia pigmenti in a cohort of male patients
Francesca Fusco et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2007)
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
Cheng-Lung Ku et al.
JOURNAL OF MEDICAL GENETICS (2007)
Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKγ gene
Francesca Fusco et al.
GENE (2006)
Posttranslational modifications of NEMO and its partners in NF-κB signaling
Helene Sebban et al.
TRENDS IN CELL BIOLOGY (2006)
NF-κB and inflammation in genetic disease
Helene Sebban et al.
BIOCHEMICAL PHARMACOLOGY (2006)
NF-κB and the immune response
M. S. Hayden et al.
ONCOGENE (2006)
Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination
Stephane T. Temmerman et al.
BLOOD (2006)
Inhibition of transcription factor NF-κB in the central nervous system ameliorates autoimmune encephalomyelitis in mice
Geert van Loo et al.
NATURE IMMUNOLOGY (2006)
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
Orchidee Filipe-Santos et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2006)
Ubiquitination of RIP is required for tumor necrosis factor α-induced NF-κB activation
HX Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
NF-κB-related genetic diseases
G Courtois et al.
CELL DEATH AND DIFFERENTIATION (2006)
Activation of IKK by TNFα requires site-specific ubiquitination of RIP1 and polyubiquitin binding by NEMO
CK Ea et al.
MOLECULAR CELL (2006)
NEMO is a sensor of Lys 63-linked polyubiquitination and functions in NF-κB activation
CJ Wu et al.
NATURE CELL BIOLOGY (2006)
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
A Puel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-κB activation
E Vinolo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling
A Nenci et al.
HUMAN MOLECULAR GENETICS (2006)
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation
KH Orstavik et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
NEMO, NF kappa B signalling and incontinentia pigmenti
DL Nelson
CURRENT OPINION IN GENETICS & DEVELOPMENT (2006)
A new mutation in exon 7 of NEMO gene:: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
N Martinez-Pomar et al.
HUMAN GENETICS (2005)
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome
LS Schmidt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
NEMO mutations in 2 unrelated boys with severe infections and conical teeth
CL Ku et al.
PEDIATRICS (2005)
Human nuclear factor κB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
JS Orange et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2004)
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 et al.
HUMAN MOLECULAR GENETICS (2004)
The trimerization domain of nemo is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains
F Agou et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Nuclear factor κB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
T Niehues et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2004)
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
R Nishikomori et al.
BLOOD (2004)
Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences
ST Lovett
MOLECULAR MICROBIOLOGY (2004)
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti
J Steffann et al.
PRENATAL DIAGNOSIS (2004)
Sequential modification of NEMO/IKKγ by SUMO-1 and ubiquitin mediates NF-κB activation by genotoxic stress
TT Huang et al.
CELL (2003)
Clinical study of 40 cases of incontinentia pigmenti
S Hadj-Rabia et al.
ARCHIVES OF DERMATOLOGY (2003)
Tetrameric oligomerization of IκB kinase γ (IKKγ) is obligatory for IKK complex activity and NF-κB activation
S Tegethoff et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
Two cases of misinterpretation of molecular results in incontinentia pligmenti, and a PCR-based method to discriminate NEMO/IKK gamma gene deletion
T Bardaro et al.
HUMAN MUTATION (2003)
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother -: art. no. e97
S Dupuis-Girod et al.
PEDIATRICS (2002)
Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28
S Aradhya et al.
GENOMICS (2002)
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
S Aradhya et al.
HUMAN MOLECULAR GENETICS (2001)
A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations
S Aradhya et al.
HUMAN MOLECULAR GENETICS (2001)
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
A Jain et al.
NATURE IMMUNOLOGY (2001)
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ)
S Aradhya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
R Döffinger et al.
NATURE GENETICS (2001)
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
J Zonana et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Activation of the IκB kinases by RIP via IKKγ/NEMO-mediated oligomerization
JL Poyet et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
NEMO/IKKγ-deficient mice model incontinentia pigmenti
M Schmidt-Supprian et al.
MOLECULAR CELL (2000)
Female mice heterozygous for IKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
C Makris et al.
MOLECULAR CELL (2000)
Recruitment of the IKK signalosome to the p55 TNF receptor: RIP and A20 bind to NEMO (IKK gamma) upon receptor stimulation
SQ Zhang et al.
IMMUNITY (2000)
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