The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

No abstract is available for this paper.

• Publication year

  2006

• Venue

  American Journal of Human Genetics

• Publication date

  2006-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/501532PMID 16532398PMCID PMC1424680
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Inherited disorders of human Toll‐like receptor signaling: immunological implications

  2005cited by this paper
• NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

  2005cited by this paper
• 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.

  2004influential reference
• Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

  2004cited by this paper
• The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.

  2004influential reference
• Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.

  2004influential reference
• Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.

  2004cited by this paper
• Inherited disorders of NF-kappaB-mediated immunity in man.

  2004cited by this paper
• Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.

  2004cited by this paper
• Inherited disorders of NF-κB-mediated immunity in man

  2004cited by this paper
• Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in‐frame start codon

  2004cited by this paper
• Pyogenic Bacterial Infections in Humans with IRAK-4 Deficiency

  2003cited by this paper
• An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.

  2003cited by this paper
• Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO

  2003influential reference
• Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

  2003cited by this paper
• Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

  2003cited by this paper
• Emerging links between initiation of translation and human diseases

  2002influential reference
• Genetic dissection of immunity to mycobacteria: the human model.

  2002cited by this paper
• Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

  2002cited by this paper
• The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.

  2002cited by this paper
• Pushing the limits of the scanning mechanism for initiation of translation

  2002influential reference
• Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations

  2002influential reference
• Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.

  2002cited by this paper
• X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

  2001cited by this paper
• Ectodermal dysplasias: a new clinical-genetic classification

  2001cited by this paper
• Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

  2001influential reference
• Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

  2001influential reference
• An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

  2001influential reference
• Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).

  2001cited by this paper
• X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

  2001cited by this paper
• A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

  2001cited by this paper
• Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).

  2001cited by this paper
• Do the 5'untranslated domains of human cDNAs challenge the rules for initiation of translation (or is it vice versa)?

  2000cited by this paper
• Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

  2000influential reference
• The role of X-chromosome inactivation in female predisposition to autoimmunity

  2000cited by this paper
• N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

  2000influential reference
• Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

  2000cited by this paper
• 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).

  2000influential reference
• Omenn症候群におけるN末端RAG1フレームシフト突然変異 内部メチオニン使用が部分的なV(D)J組換え活性を導き,アミノ末端ドメインのin vivoにおける基本的役割が明らかになっている

  2000influential reference
• Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

  1996cited by this paper
• Anhidrotic ectodermal dysplasia associated with specific antibody deficiency

  1996cited by this paper
• Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

  1996influential reference
• Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

  1992cited by this paper

• Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis

  2024cites this paper
• The Monogenic Landscape of Human Infectious Diseases.

  2024cites this paper
• Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency

  2024cites this paper
• Genetic defects of brain immunity in childhood herpes simplex encephalitis

  2024cites this paper
• Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System

  2023cites this paper
• Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency

  2023cites this paper
• Premature Termination Codon in 5′ Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation

  2022cites this paper
• Defects in Innate Immunity: Receptors and Signaling Components

  2021cites this paper
• MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution

  2021cites this paper
• Functional Testing of the IL-12/IFN-γ Circuit

  2021cites this paper
• Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity

  2020cites this paper
• Human inborn errors of immunity to herpes viruses.

  2020cites this paper
• The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

  2020cites this paper
• Molecular systems in inflammatory bowel disease

  2020cites this paper
• Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.

  2019cites this paper
• Nonsense mutation-dependent reinitiation of translation in mammalian cells

  2019cites this paper
• Herpes simplex encephalitis in adult patients with MASP-2 deficiency

  2019cites this paper
• A purely quantitative form of partial recessive IFN‐&ggr;R2 deficiency caused by mutations of the initiation or second codon

  2018cites this paper
• A Review of NEMO Protein and its Relationship with Genetic Diseases

  2018cites this paper
• Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

  2018cites this paper
• Monogenic Defects of Toll-Like Receptor Signaling and Primary Immunodeficiency

  2018cites this paper
• Approach to recurrent Herpes Simplex Encephalitis in children

  2018cites this paper
• Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

  2018cites this paper
• Computational analysis on the effects of variations in T and B cells. Primary immunodeficiencies and cancer neoepitopes

  2017cites this paper
• Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

  2017cites this paper
• Human Genetic Determinants of Viral Diseases.

  2017cites this paper
• Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia

  2017cites this paper
• Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells

  2017cites this paper
• Chapter 2 Genetic Diseases Affecting the Canonical Pathway of NF-κ B Activation

  2017cites this paper
• Mendelian Susceptibility to Infections with Viruses, Mycobacteria, Bacteria, and Candida

  2016cites this paper
• Exudative Erythema Multiforme Due to Cyclobenzaprine.

  2016cites this paper
• Experience With Rapid Desensitization to Chemotherapy in a Type B Hospital.

  2016cites this paper
• A database for immunodeficiency due to mutations in nuclear factor kappa B pathway genes

  2016cites this paper
• Alternative translation initiation unraveled by N-terminomics and ribosome profiling

  2016cites this paper
• Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation.

  2016cites this paper
• Delayed Allergic Reaction to Acenocoumarol With a Positive Lymphocyte Transformation Test.

  2016cites this paper
• Genetic Diseases Affecting the Canonical Pathway of NF-κB Activation

  2016cites this paper
• Identification of Putative Kunitz-Type Proteinase Inhibitor as an Allergenic Protein in Potato.

  2016influential citation
• NF-κB-related genetic diseases

  2015cites this paper
• Innate immune response during herpes simplex virus encephalitis and development of immunomodulatory strategies

  2015cites this paper
• © 201 ponse during herpes simplex nd development of immunomodulatory strategies

  2015cites this paper
• Severe infectious diseases of childhood as monogenic inborn errors of immunity

  2015cites this paper
• Herpes Simplex Virus

  2015cites this paper
• Primary Immunodeficiency Diseases

  2015cites this paper
• 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

  2015cites this paper
• Combined immunodeficiencies with nonfunctional T lymphocytes.

  2014cites this paper
• Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

  2014cites this paper
• 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)

  2014cites this paper
• N-terminal Proteomics and Ribosome Profiling Provide a Comprehensive View of the Alternative Translation Initiation Landscape in Mice and Men*

  2014cites this paper
• Human Immunodeficiencies Resulting From Defective NF-κB Activation

  2014cites this paper
• Other TLR Pathway Defects

  2014cites this paper
• Addressing diagnostic challenges in primary immunodeficiencies: Laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

  2014cites this paper
• A Short Hairpin RNA Screen of Interferon-Stimulated Genes Identifies a Novel Negative Regulator of the Cellular Antiviral Response

  2013cites this paper
• Prédisposition génétique aux maladies infectieuses chez l’homme☆

  2013cites this paper
• TLR3 immunity to infection in mice and humans.

  2013cites this paper
• Mendelian predisposition to herpes simplex encephalitis.

  2013cites this paper
• 36 – Inherited disorders of IFN-γ-, IFN-α/β/λ-, and NF-κB-mediated immunity

  2013cites this paper
• A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

  2013cites this paper
• Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.

  2012cites this paper
• NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

  2011cites this paper
• Inborn errors of anti-viral interferon immunity in humans.

  2011cites this paper
• Decreased Expression in Nuclear Factor-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes X-linked Ectodermal Dysplasia with Immunodeficiency

  2011cites this paper
• Alternative splicing of the human gene SYBL1 modulates protein domain architecture of longin VAMP7/TI-VAMP, showing both non-SNARE and synaptobrevin-like isoforms

  2011influential citation
• Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases

  2011cites this paper
• Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

  2011cites this paper
• New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.

  2011cites this paper
• Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.

  2011cites this paper
• Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics.

  2011cites this paper
• Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood.

  2010cites this paper
• White Blood Cell and Immunodeficiency Disorders

  2010cites this paper
• Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene.

  2010cites this paper
• RNA-Based Variant Detection

  2010cites this paper
• A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

  2010cites this paper
• Clinical correlates of herpes simplex virus viremia among hospitalized adults.

  2009cites this paper
• KAPITEL 5 – Neurokutane Erkrankungen

  2009cites this paper
• Clinical and Laboratory Findings in Hyper-IgM Syndrome with Novel CD40L and AICDA Mutations

  2009cites this paper
• Macrophage Classical Activation

  2009cites this paper
• The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.

  2008cites this paper
• From infectious diseases to primary immunodeficiencies.

  2008cites this paper
• Inborn errors of interferon (IFN)‐mediated immunity in humans: insights into the respective roles of IFN‐α/β, IFN‐γ, and IFN‐λ in host defense

  2008influential citation
• Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

  2008cites this paper
• Genetisch bedingte Defekte der angeborenen Immunität

  2008cites this paper
• Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

  2008cites this paper
• The mutations and potential targets of the forkhead transcription factor FOXL2.

  2008cites this paper
• Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases.

  2008cites this paper
• A novel mutation in NFKBIA/IKBA results in a degradation‐resistant N‐truncated protein and is associated with ectodermal dysplasia with immunodeficiency

  2008cites this paper
• A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

  2008cites this paper
• Definition der „Infektanfälligkeit“ und Klassifikation angeborener Immundefekte – Stand 2007

  2008cites this paper
• Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes.

  2008cites this paper
• Host genetics of mycobacterial diseases in mice and men: forward genetic studies of BCG-osis and tuberculosis.

  2007cites this paper
• Reply to Inácio et al

  2007cites this paper
• Human primary immunodeficiencies of type I interferons.

  2007cites this paper
• Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome

  2007cites this paper
• Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans

  2007cites this paper
• Comment on ‘Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease’

  2007cites this paper
• Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features

  2006cites this paper
• IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

  2006cites this paper
• Mutations in the NF-κB signaling pathway: implications for human disease

  2006cites this paper
• Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

  2006cites this paper
• X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

  2006influential citation