Literature DB >> 14523034

Finding NEMO: genetic disorders of NF-[kappa]B activation.

Jordan S Orange1, Raif S Geha.   

Abstract

The pathways between a receptor and transcriptional activation mediated by NF-kappaB are complex. The study of human gene mutations that result in dysregulation of these pathways has provided insight into the functions of individual components of the pathway, their interrelations, and the significance of these systems to the organism.

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Year:  2003        PMID： 14523034      PMCID： PMC200971          DOI： 10.1172/JCI19960

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


  19 in total

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Authors:  A Israël
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Review 2.  Missing pieces in the NF-kappaB puzzle.

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Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

4.  Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Authors:  P Schneider; S L Street; O Gaide; S Hertig; A Tardivel; J Tschopp; L Runkel; K Alevizopoulos; B M Ferguson; J Zonana
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5.  X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Authors:  R Döffinger; A Smahi; C Bessia; F Geissmann; J Feinberg; A Durandy; C Bodemer; S Kenwrick; S Dupuis-Girod; S Blanche; P Wood; S H Rabia; D J Headon; P A Overbeek; F Le Deist; S M Holland; K Belani; D S Kumararatne; A Fischer; R Shapiro; M E Conley; E Reimund; H Kalhoff; M Abinun; A Munnich; A Israël; G Courtois; J L Casanova
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

6.  Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Authors:  A W Monreal; B M Ferguson; D J Headon; S L Street; P A Overbeek; J Zonana
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7.  Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.

Authors:  A Jain; C A Ma; S Liu; M Brown; J Cohen; W Strober
Journal:  Nat Immunol       Date:  2001-03       Impact factor: 25.606

8.  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).

Authors:  J Zonana; M E Elder; L C Schneider; S J Orlow; C Moss; M Golabi; S K Shapira; P A Farndon; D W Wara; S A Emmal; B M Ferguson
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Authors:  D J Headon; S A Emmal; B M Ferguson; A S Tucker; M J Justice; P T Sharpe; J Zonana; P A Overbeek
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10.  Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Authors:  A Smahi; G Courtois; P Vabres; S Yamaoka; S Heuertz; A Munnich; A Israël; N S Heiss; S M Klauck; P Kioschis; S Wiemann; A Poustka; T Esposito; T Bardaro; F Gianfrancesco; A Ciccodicola; M D'Urso; H Woffendin; T Jakins; D Donnai; H Stewart; S J Kenwrick; S Aradhya; T Yamagata; M Levy; R A Lewis; D L Nelson
Journal:  Nature       Date:  2000-05-25       Impact factor: 49.962
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4.  Inflammatory bowel disease in pediatric and adolescent patients: a biomolecular and histopathological review.

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Review 5.  Cell penetrating peptide inhibitors of nuclear factor-kappa B.

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Review 6.  X-linked immunodeficiencies.

Authors:  Hans D Ochs; Luigi D Notarangelo
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Review 7.  Sepsis-induced Cardiac Mitochondrial Damage and Potential Therapeutic Interventions in the Elderly.

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8.  Noncanonical NF-κB signaling is limited by classical NF-κB activity.

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Review 9.  Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.

Authors:  Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Stefano Volpi; Lucia Leonardi; Francesco La Torre; Silvia Federici; Stefania Corrente; Bianca Laura Cinicola; Annarosa Soresina; Caterina Cancrini; Gian Luigi Marseglia; Fabio Cardinale
Journal:  World Allergy Organ J       Date:  2021-02-22       Impact factor: 4.084

10.  NEMO, a Transcriptional Target of Estrogen and Progesterone, Is Linked to Tumor Suppressor PML in Breast Cancer.

Authors:  Hanan S Elsarraj; Kelli E Valdez; Yan Hong; Sandra L Grimm; Lawrence R Ricci; Fang Fan; Ossama Tawfik; Lisa May; Therese Cusick; Marc Inciardi; Mark Redick; Jason Gatewood; Onalisa Winblad; Susan Hilsenbeck; Dean P Edwards; Christy R Hagan; Andrew K Godwin; Carol Fabian; Fariba Behbod
Journal:  Cancer Res       Date:  2017-05-17       Impact factor: 12.701
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