| scholarly article | Q13442814 |
| P50 | author | Jean-Laurent Casanova | Q17322542 |
| Frederic Geissmann | Q42599216 | ||
| Sophie Dupuis-Girod | Q42742676 | ||
| Paul A Overbeek | Q45712608 | ||
| Asma Smahi | Q57421223 | ||
| Hermann Kalhoff | Q64005991 | ||
| Anne Durandy | Q42348498 | ||
| P2093 | author name string | S M Holland | |
| D J Headon | |||
| A Fischer | |||
| R Shapiro | |||
| A Israël | |||
| G Courtois | |||
| J Feinberg | |||
| M E Conley | |||
| S Kenwrick | |||
| M Abinun | |||
| F Le Deist | |||
| C Bodemer | |||
| P Wood | |||
| K Belani | |||
| A Munnich | |||
| S Blanche | |||
| H Kalhoff | |||
| R Döffinger | |||
| D S Kumararatne | |||
| E Reimund | |||
| C Bessia | |||
| S H Rabia | |||
| P2860 | cites work | Ectodermal dysplasia and immunodeficiency | Q42374700 |
| Extramedullary Hematopoiesis of the Cranial Dura and Anhidrotic Ectodermal Dysplasia | Q44849289 | ||
| Involvement of a novel Tnf receptor homologue in hair follicle induction | Q47941369 | ||
| NEMO/IKK gamma-deficient mice model incontinentia pigmenti. | Q52540121 | ||
| Clinical spectrum of X-linked hyper-IgM syndrome | Q57075392 | ||
| Anhidrotic ectodermal dysplasia associated with specific antibody deficiency | Q57131842 | ||
| Activated human T cells express a ligand for the human B cell-associated antigen CD40 which participates in T cell-dependent activation of B lymphocytes | Q67543297 | ||
| [Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers] | Q73260476 | ||
| Incontinentia pigmenti | Q73285486 | ||
| The IL-1 receptor/toll-like receptor superfamily: crucial receptors for inflammation and host defense | Q73713781 | ||
| Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells | Q22010370 | ||
| Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia | Q22010459 | ||
| IL-12 synergizes with IL-18 or IL-1beta for IFN-gamma production from human T cells | Q22011178 | ||
| Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema | Q22254202 | ||
| Genetic and Physical Mapping of theLpsLocus: Identification of the Toll-4 Receptor as a Candidate Gene in the Critical Region | Q22337434 | ||
| Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors | Q24290424 | ||
| X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein | Q24310290 | ||
| IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex | Q24316469 | ||
| 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) | Q24538937 | ||
| RANK is essential for osteoclast and lymph node development | Q24598872 | ||
| Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand | Q24653311 | ||
| Ligation of CD40 on dendritic cells triggers production of high levels of interleukin-12 and enhances T cell stimulatory capacity: T-T help via APC activation | Q24677534 | ||
| Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity | Q27860643 | ||
| The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A | Q28141467 | ||
| CD40-CD40 ligand | Q28143324 | ||
| Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium | Q28145744 | ||
| Differential roles of TLR2 and TLR4 in recognition of gram-negative and gram-positive bacterial cell wall components | Q28511151 | ||
| Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation | Q29617419 | ||
| Innate immunity | Q29618949 | ||
| Ectodermal dysplasia | Q33624775 | ||
| IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men. | Q33664786 | ||
| The IKK complex: an integrator of all signals that activate NF-kappaB? | Q33877083 | ||
| Human tumor necrosis factor alpha gene regulation by virus and lipopolysaccharide | Q33926019 | ||
| Ectodermal dysplasias: a clinical classification and a causal review | Q34318645 | ||
| Requirement for NF-kappaB in osteoclast and B-cell development | Q35199657 | ||
| Toll-like receptor-2 mediates mycobacteria-induced proinflammatory signaling in macrophages. | Q36746122 | ||
| Characterization of a mutant cell line that does not activate NF-kappaB in response to multiple stimuli | Q40021143 | ||
| Thymic hypoplasia and T-cell deficiency in ectodermal dysplasia: case report and review of the literature | Q40730330 | ||
| Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia | Q40803056 | ||
| Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti | Q40866170 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | NF-κB | Q411114 |
| Anhidrotic ectodermal dysplasia | Q108687067 | ||
| P304 | page(s) | 277-285 | |
| P577 | publication date | 2001-03-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling | |
| P478 | volume | 27 |
| Q37760846 | "Without Ub I am nothing": NEMO as a multifunctional player in ubiquitin-mediated control of NF-kappaB activation |
| Q43105666 | 17Beta-estradiol inhibits IL-8 in cystic fibrosis by up-regulating secretory leucoprotease inhibitor |
| Q39086011 | 30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology |
| Q28591997 | A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis |
| Q37223686 | A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). |
| Q33904566 | A case of incontinentia pigmenti associated with multiorgan abnormalities |
| Q28592979 | A dual role for Ikk alpha in tooth development |
| Q36001303 | A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency |
| Q28191040 | A model for gene therapy of human hereditary lymphedema |
| Q28305026 | A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function |
| Q48174659 | A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia |
| Q90352594 | A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia |
| Q54672295 | A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). |
| Q37004799 | A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease |
| Q45345436 | A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy |
| Q37632647 | A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema |
| Q35231720 | A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency |
| Q40335919 | 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-kappa B activation |
| Q78442487 | A primary immunodeficiency disorder associated with absence of lymphoid germinal centers |
| Q40689633 | A recessive mutant cell line with a constitutive IkappaB kinase activity |
| Q28187818 | A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha |
| Q47125969 | ANGPTL8 negatively regulates NF-κB activation by facilitating selective autophagic degradation of IKKγ. |
| Q38188634 | Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses |
| Q42220379 | Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes |
| Q47945032 | All-atom molecular dynamics comparison of disease-associated zinc fingers. |
| Q37395852 | Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. |
| Q46319082 | Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency |
| Q43785411 | Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations |
| Q99248445 | Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism |
| Q33409176 | Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation |
| Q55671193 | Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus |
| Q27468945 | BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency |
| Q56941083 | Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes |
| Q26863260 | Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases |
| Q34677647 | Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. |
| Q24302790 | Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis |
| Q60250685 | C4b-Binding Protein (C4BP) Activates B Cells through the CD40 Receptor |
| Q24337897 | CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling |
| Q36229478 | CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance |
| Q28216904 | CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes |
| Q34095540 | CRAC channelopathies |
| Q42917023 | Can your genes make you more prone to pneumococcal disease? |
| Q37082929 | Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice |
| Q53453725 | Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. |
| Q37044332 | Clinical Utility Gene Card for: incontinentia pigmenti |
| Q37121906 | Clinical immunology review series: an approach to the patient with recurrent infections in childhood |
| Q58582861 | Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency |
| Q36150939 | Comparative Transcriptome Analysis Reveals that a Ubiquitin-Mediated Proteolysis Pathway Is Important for Primary and Secondary Hair Follicle Development in Cashmere Goats |
| Q36027537 | Control of human host immunity to mycobacteria. |
| Q80119055 | Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen |
| Q42221403 | Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO). |
| Q34127400 | Death receptor signaling giving life to ectodermal organs |
| Q37660616 | Death receptors: targets for cancer therapy |
| Q54577574 | Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency. |
| Q50289677 | Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR) |
| Q35640534 | Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency |
| Q36015012 | Defects in the interferon-gamma and interleukin-12 pathways |
| Q30453097 | Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations |
| Q60644300 | Deletion of the N-terminus of IKKγ induces apoptosis in keratinocytes and impairs the AKT/PTEN signaling pathway |
| Q35098644 | Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity |
| Q34775627 | Diagnosis of immunodeficiency: clinical clues and diagnostic tests |
| Q38134658 | Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition |
| Q40318502 | Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation |
| Q87004045 | Downstream activation of NF-κB in the EDA-A1/EDAR signalling in Sjögren's syndrome and its regulation by the ubiquitin-editing enzyme A20 |
| Q24632024 | EDA signaling and skin appendage development |
| Q38565751 | 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 |
| Q33264588 | EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families |
| Q34090412 | Ectodermal dysplasias: a new clinical-genetic classification |
| Q34694875 | Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation |
| Q35145617 | Ectodysplasin signaling in development |
| Q34746176 | Educational paper: syndromic forms of primary immunodeficiency |
| Q45406318 | Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease |
| Q24318807 | Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma |
| Q35073831 | Escherichia coli prevents phagocytosis-induced death of macrophages via classical NF-kappaB signaling, a link to T-cell activation |
| Q36835086 | Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes |
| Q40203841 | Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations |
| Q37186584 | Ex vivo inhibition of NF-kappaB signaling in alloreactive T-cells prevents graft-versus-host disease. |
| Q35096690 | Exogenous signal-independent nuclear IkappaB kinase activation triggered by Nkx3.2 enables constitutive nuclear degradation of IkappaB-alpha in chondrocytes |
| Q50523896 | Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. |
| Q92758747 | Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? |
| Q40574361 | Fever and leg pain in a 42-month-old |
| Q39912726 | Finding NEMO: genetic disorders of NF-κB activation |
| Q38928362 | First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes |
| Q38641260 | From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models |
| Q28115318 | Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis |
| Q42462859 | Functional link between retinoblastoma family of proteins and the Wnt signaling pathway in mouse epidermis |
| Q24292109 | Gene defect in ectodermal dysplasia implicates a death domain adapter in development |
| Q37619851 | Genetic deficiencies of innate immune signalling in human infectious disease |
| Q37045234 | Genetic immunodeficiency diseases |
| Q35860015 | Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases |
| Q50041731 | Genetics of Osteopetrosis. |
| Q37900471 | Genetics of innate immunity and UTI susceptibility. |
| Q28308201 | Genetics of lymphatic anomalies |
| Q38950667 | Genetics of syndromic and non-syndromic hereditary nail disorders |
| Q34805799 | Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae |
| Q38056850 | Genodermatoses caused by genetic mosaicism |
| Q51037191 | Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. |
| Q36045102 | Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. |
| Q52118560 | Healing a natural knockout of epithelial organogenesis. |
| Q40146597 | Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations. |
| Q37335682 | Host genetic susceptibility to pneumococcal and meningococcal disease: a systematic review and meta-analysis |
| Q104073833 | Host genetics and infectious disease: new tools, insights and translational opportunities |
| Q34579168 | Host susceptibility factors in mycobacterial infection. Genetics and body morphotype |
| Q34731204 | How are the regulators regulated? The search for mechanisms that impose specificity on induction of cell death and NF-kappaB activation by members of the TNF/NGF receptor family |
| Q35671268 | Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia |
| Q39361295 | Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency |
| Q36990637 | Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses |
| Q36015009 | Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation |
| Q34360486 | Human genetic defects in class-switch recombination (hyper-IgM syndromes). |
| Q37981890 | Human genetic susceptibility to infectious disease |
| Q35965043 | Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae |
| Q35671715 | Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). |
| Q35035745 | Human natural killer cell deficiencies and susceptibility to infection |
| Q24310432 | Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations |
| Q35618118 | Human primary immunodeficiency diseases: a perspective |
| Q28303338 | Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features |
| Q35108519 | Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination |
| Q50974153 | Hyper-IgM, neutropenia, mild infections and low response to polyclonal stimulation: hyper-IgM syndrome or common variable immunodeficiency? |
| Q35927447 | Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations. |
| Q33405842 | Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections |
| Q37262549 | Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity |
| Q38195246 | ICON: the early diagnosis of congenital immunodeficiencies |
| Q52657952 | IKBKG (NEMO) 5' untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections. |
| Q34630390 | IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function |
| Q45316718 | IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) |
| Q37789193 | IKK Regulation and Human Genetics |
| Q35848596 | IKK biology |
| Q38272499 | IKK-related genetic diseases: probing NF-κB functions in humans and other matters |
| Q74258243 | IKKgamma /NEMO facilitates the recruitment of the IkappaB proteins into the IkappaB kinase complex |
| Q38539817 | IL-12 and IL-23 cytokines: from discovery to targeted therapies for immune-mediated inflammatory diseases. |
| Q33611375 | IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature |
| Q41112798 | IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease |
| Q50335804 | Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. |
| Q39696024 | Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology |
| Q37019412 | Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus |
| Q39166988 | Immune defects caused by mutations in the ubiquitin system |
| Q38212818 | Immune diseases caused by mutations in kinases and components of the ubiquitin system |
| Q37846872 | Immunity to salmonellosis |
| Q42723836 | Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. |
| Q37699956 | Immunodeficiency due to mutations in ORAI1 and STIM1. |
| Q40136850 | Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. |
| Q24301912 | Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency |
| Q36633302 | Immunoglobulin class-switch recombination deficiencies |
| Q35190461 | Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind |
| Q38113210 | Immunology and bone |
| Q35849159 | Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination |
| Q35797001 | Inborn errors in immunity: unique natural models to dissect oral immunity |
| Q99710535 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |
| Q40926418 | Increased serum IgM, immunodeficiency, and autoimmunity: A clinical series |
| Q30336694 | Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis. |
| Q80597504 | Induction of human monocyte interleukin (IL)-8 by fibrinogen through the toll-like receptor pathway |
| Q35558806 | Infections in Patients with Inherited Defects in Phagocytic Function |
| Q35090141 | Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency |
| Q37778043 | Inherited Defects of Immunoglobulin Class Switch Recombination |
| Q35510477 | Inherited and acquired immunodeficiencies underlying tuberculosis in childhood |
| Q34386299 | Inherited disorders of human Toll-like receptor signaling: immunological implications. |
| Q36960991 | Inherited human IRAK-4 deficiency: an update. |
| Q40507772 | Inhibition of NF-kappa B activation by peptides targeting NF-kappa B essential modulator (nemo) oligomerization |
| Q74463183 | Inhibition of Rel/Nuclear Factor-kappaB signaling in skin results in defective DNA damage-induced cell cycle arrest and Ha-ras- and p53-independent tumor development |
| Q37694915 | Innate immune recognition in infectious and noninfectious diseases of the lung |
| Q36889564 | Innate immunogenetics: a tool for exploring new frontiers of host defence |
| Q38171457 | Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease |
| Q37923353 | Insights into NK cell biology from human genetics and disease associations. |
| Q35014476 | Interaction of Pattern Recognition Receptors with Mycobacterium Tuberculosis |
| Q24658087 | Interleukin-1 (IL-1) induces the Lys63-linked polyubiquitination of IL-1 receptor-associated kinase 1 to facilitate NEMO binding and the activation of IkappaBalpha kinase |
| Q36037764 | Interleukin-2, interleukin-15, and their roles in human natural killer cells |
| Q48103457 | Internally tagged ubiquitin: a tool to identify linear polyubiquitin-modified proteins by mass spectrometry |
| Q52113251 | International nosology and classification of constitutional disorders of bone (2001). |
| Q36597952 | Intracellular signals and events activated by cytokines of the tumor necrosis factor superfamily: From simple paradigms to complex mechanisms. |
| Q39143583 | Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-κB and T Cell Anergy Patient B Cells. |
| Q33917973 | Invasive pneumococcal disease in children can reveal a primary immunodeficiency |
| Q51101481 | KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. |
| Q36142583 | Laboratory evaluation of primary immunodeficiencies |
| Q90740614 | Lessons learned from the study of human inborn errors of innate immunity |
| Q28082899 | Linear ubiquitination in immunity |
| Q27027872 | Linear ubiquitination signals in adaptive immune responses |
| Q52686808 | Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. |
| Q34154212 | Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review |
| Q24641992 | Lys63-linked polyubiquitination of IRAK-1 is required for interleukin-1 receptor- and toll-like receptor-mediated NF-kappaB activation |
| Q36139498 | Making a tooth: growth factors, transcription factors, and stem cells |
| Q36037736 | Mechanism and control of V(D)J recombination versus class switch recombination: similarities and differences |
| Q27022250 | Mendelian genetics of human susceptibility to fungal infection |
| Q50080760 | Mendelian susceptibility to mycobacterial disease: defects in the IL-12/IFNgamma pathway |
| Q26862947 | Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity |
| Q38233678 | Met1-linked ubiquitination in immune signalling |
| Q60304917 | Modifiying NEMO |
| Q34647002 | Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways. |
| Q26796229 | Molecular basis of hypohidrotic ectodermal dysplasia: an update |
| Q38132668 | Molecular control of the NEMO family of ubiquitin-binding proteins |
| Q36302334 | Molecular defects in T- and B-cell primary immunodeficiency diseases |
| Q34809934 | Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases. |
| Q34561450 | Molecular-pathogenetic classification of genetic disorders of the skeleton |
| Q41575709 | Mutation detection and prenatal diagnosis of XLHED pedigree |
| Q35899404 | Mutation identification in a canine model of X-linked ectodermal dysplasia |
| Q34487902 | Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia |
| Q34577553 | Mutations in the NF-kappaB signaling pathway: implications for human disease |
| Q36233106 | Myodegeneration in EDA-A2 transgenic mice is prevented by XEDAR deficiency |
| Q35190204 | NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus. |
| Q24317367 | NEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domain |
| Q51826659 | NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: a new disease association. |
| Q28205098 | NEMO trimerizes through its coiled-coil C-terminal domain |
| Q62806043 | NEMO/IKK gamma: linking NF-kappa B to human disease. |
| Q34720640 | NF-kappaB family of transcription factors: central regulators of innate and adaptive immune functions. |
| Q44573171 | NF-kappaB in critical diseases: a bad guy? |
| Q28205043 | NF-kappaB regulation in the immune system |
| Q34264609 | NF-kappaB signaling and human disease |
| Q28290224 | NF-kappaB-related genetic diseases |
| Q37995696 | NF-κB and the link between inflammation and cancer |
| Q37449635 | NF-κB signaling and bone resorption |
| Q40638586 | NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation. |
| Q50804010 | Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. |
| Q37282406 | New insight on the Xq28 association with systemic sclerosis |
| Q37748586 | New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis. |
| Q35652037 | New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein |
| Q47933540 | Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4. |
| Q37727884 | Nontuberculous mycobacteria and the lung: from suspicion to treatment |
| Q35553879 | Novel Perspective: Focusing on the X Chromosome in Reproductive Cancers |
| Q35579356 | Nuclear factor (NF)-kappaB proteins: therapeutic targets |
| Q42331500 | OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH. |
| Q33693080 | ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia |
| Q47385771 | ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency |
| Q64228409 | One Disease, Many Genes: Implications for the Treatment of Osteopetroses |
| Q28504606 | Opg, Rank, and Rankl in tooth development: co-ordination of odontogenesis and osteogenesis |
| Q37489600 | Osteoclasts and the immune system |
| Q37544448 | Osteoimmunology: crosstalk between the immune and bone systems |
| Q56335726 | Osteopetrosis |
| Q38123371 | Osteopetrosis: genetics, treatment and new insights into osteoclast function. |
| Q41889196 | Osteopetrosis: radiological & radionuclide imaging |
| Q35046817 | Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds |
| Q24643034 | Pathogen recognition and inflammatory signaling in innate immune defenses |
| Q34540738 | Pathogenesis of vascular anomalies |
| Q40673196 | Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey |
| Q40561373 | Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. |
| Q34725505 | Pharmacological stimulation of Edar signaling in the adult enhances sebaceous gland size and function |
| Q35213554 | Polyubiquitin binding to ABIN1 is required to prevent autoimmunity |
| Q38734490 | Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon β. |
| Q38624562 | Post-Translational Modification Profiling-Functional Proteomics for the Analysis of Immune Regulation. |
| Q29042159 | Practice parameter for the diagnosis and management of primary immunodeficiency |
| Q97067634 | Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations |
| Q34284845 | Primary immunodeficiency diseases: an experimental model for molecular medicine |
| Q27026709 | Programmed necrosis in the cross talk of cell death and inflammation |
| Q45874408 | Prospects for modulating the CD40/CD40L pathway in the therapy of the hyper-IgM syndrome. |
| Q36470632 | Protein microarrays identify disease-specific anti-cytokine autoantibody profiles in the landscape of immunodeficiency |
| Q24299089 | Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans |
| Q38375236 | Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling |
| Q43894530 | Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes |
| Q97569045 | Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target |
| Q38032312 | Recognition of bacterial infection by innate immune sensors |
| Q36598807 | Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease. |
| Q79084142 | Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia |
| Q38680309 | Recurrent Fevers for the Pediatric Immunologist: It's Not All Immunodeficiency |
| Q24633098 | Regulation of aicda expression and AID activity: relevance to somatic hypermutation and class switch DNA recombination |
| Q39059200 | Regulation of epithelial ion transport in exocrine glands by store-operated Ca2+ entry |
| Q93669279 | Reply to Kosaki et al |
| Q62658164 | Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency |
| Q24307576 | Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor |
| Q24310727 | SINTBAD, a novel component of innate antiviral immunity, shares a TBK1-binding domain with NAP1 and TANK |
| Q29618714 | Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected] |
| Q24300945 | Sequential modification of NEMO/IKKgamma by SUMO-1 and ubiquitin mediates NF-kappaB activation by genotoxic stress |
| Q45886049 | Severe combined immunodeficiencies and related disorders |
| Q26775891 | Severe infectious diseases of childhood as monogenic inborn errors of immunity |
| Q35290347 | Severe viral infections and primary immunodeficiencies |
| Q36446179 | Signal processing by its coil zipper domain activates IKK gamma |
| Q37980557 | Signaling in innate immunity and inflammation |
| Q36082866 | Signaling networks that control the lineage commitment and differentiation of bone cells |
| Q36356747 | Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells |
| Q28235713 | Skeletal remodeling in health and disease |
| Q37628194 | Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation |
| Q37395862 | Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function |
| Q92097420 | Structural Basis of TLR2/TLR1 Activation by the Synthetic Agonist Diprovocim |
| Q28588018 | Structure-function analysis of the A20-binding inhibitor of NF-kappa B activation, ABIN-1 |
| Q51851019 | Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. |
| Q34044794 | Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome |
| Q37522406 | Sweat gland progenitors in development, homeostasis, and wound repair |
| Q35621987 | Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities |
| Q37979859 | T cell-B cell interactions in primary immunodeficiencies |
| Q24530773 | TRAF6-deficient mice display hypohidrotic ectodermal dysplasia |
| Q99594459 | Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study |
| Q40553944 | Tax-independent constitutive IkappaB kinase activation in adult T-cell leukemia cells |
| Q97526637 | The Balance of TNF Mediated Pathways Regulates Inflammatory Cell Death Signaling in Healthy and Diseased Tissues |
| Q24302243 | The CAP-Gly domain of CYLD associates with the proline-rich sequence in NEMO/IKKgamma |
| Q33693802 | The IKK complex, a central regulator of NF-kappaB activation |
| Q28830060 | The Influenza A Virus Genotype Determines the Antiviral Function of NF-κB |
| Q34507229 | The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. |
| Q47925750 | The activation level of the TNF family receptor, Edar, determines cusp number and tooth number during tooth development. |
| Q78298237 | The binding site for TRAF2 and TRAF3 but not for TRAF6 is essential for CD40-mediated immunoglobulin class switching |
| Q34324801 | The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation |
| Q37989135 | The emerging role of linear ubiquitination in cell signaling |
| Q47387957 | The genetic basis of seborrhoeic dermatitis: a review |
| Q35620082 | The human model: a genetic dissection of immunity to infection in natural conditions |
| Q35866664 | The hyper IgM syndrome--an evolving story |
| Q38116775 | The hyper IgM syndromes |
| Q38810930 | The lymphatic vasculature: development and role in shaping immunity. |
| Q35597111 | The mechanisms of immune diversification and their disorders |
| Q37476901 | The role of Toll-like receptor signaling in human immunodeficiencies |
| Q34645503 | The role of growth factors in tooth development |
| Q39285720 | The role of hybrid ubiquitin chains in the MyD88 and other innate immune signalling pathways. |
| Q38217924 | The role of ubiquitin-binding domains in human pathophysiology |
| Q40563272 | The trimerization domain of NEMO is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains |
| Q28201717 | The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination |
| Q37198675 | The two-faced NF-kappaB in the skin. |
| Q35967532 | The ubiquitin system: pathogenesis of human diseases and drug targeting |
| Q37295365 | The zinc finger domain of IKKγ (NEMO) protein in health and disease |
| Q42455219 | Timed NF-kappaB inhibition in skin reveals dual independent effects on development of HED/EDA and chronic inflammation |
| Q36238886 | Toll-like receptor signaling in primary immune deficiencies |
| Q35904386 | Toll-like receptors in the pathogenesis of human disease |
| Q37074250 | Towards a better understanding and new therapeutics of osteopetrosis |
| Q35161176 | Towards a new classification of ectodermal dysplasias. |
| Q28586618 | Traf6 is essential for murine tooth cusp morphogenesis |
| Q41882009 | Transplant for NEMO: this and much, much more |
| Q37327225 | Ubiquitin in NF-kappaB signaling. |
| Q37178987 | Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets. |
| Q38379582 | Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies. |
| Q28972255 | Update on the hyper immunoglobulin M syndromes |
| Q35054155 | Update on the molecular genetics of vascular anomalies |
| Q36091999 | Utility of next generation sequencing in clinical primary immunodeficiencies |
| Q34775646 | White blood cell defects: molecular discoveries and clinical management |
| Q35084918 | X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness |
| Q35850633 | X-linked immunodeficiencies |
| Q36228741 | X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production |
| Q83800452 | [Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency] |
| Q80287298 | [Classification and diagnosis of immunodeficiency syndromes] |
| Q75417425 | [New hereditary immunodeficiencies and genetic predisposition to infective diseases in children] |
| Q35848908 | c-Rel plays a key role in deficient activation of B cells from a non-X-linked hyper-IgM patient |
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