305 related articles for article (PubMed ID: 10911992)
1. NEMO/IKK gamma-deficient mice model incontinentia pigmenti.
Schmidt-Supprian M; Bloch W; Courtois G; Addicks K; Israël A; Rajewsky K; Pasparakis M
Mol Cell; 2000 Jun; 5(6):981-92. PubMed ID: 10911992
[TBL] [Abstract][Full Text] [Related]
2. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti.
Makris C; Godfrey VL; Krähn-Senftleben G; Takahashi T; Roberts JL; Schwarz T; Feng L; Johnson RS; Karin M
Mol Cell; 2000 Jun; 5(6):969-79. PubMed ID: 10911991
[TBL] [Abstract][Full Text] [Related]
3. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.
Nenci A; Huth M; Funteh A; Schmidt-Supprian M; Bloch W; Metzger D; Chambon P; Rajewsky K; Krieg T; Haase I; Pasparakis M
Hum Mol Genet; 2006 Feb; 15(4):531-42. PubMed ID: 16399796
[TBL] [Abstract][Full Text] [Related]
4. NF-kappa B defects in humans: the NEMO/incontinentia pigmenti connection.
Courtois G; Israël A
Sci STKE; 2000 Nov; 2000(58):pe1. PubMed ID: 11752619
[TBL] [Abstract][Full Text] [Related]
5. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Smahi A; Courtois G; Vabres P; Yamaoka S; Heuertz S; Munnich A; Israël A; Heiss NS; Klauck SM; Kioschis P; Wiemann S; Poustka A; Esposito T; Bardaro T; Gianfrancesco F; Ciccodicola A; D'Urso M; Woffendin H; Jakins T; Donnai D; Stewart H; Kenwrick SJ; Aradhya S; Yamagata T; Levy M; Lewis RA; Nelson DL
Nature; 2000 May; 405(6785):466-72. PubMed ID: 10839543
[TBL] [Abstract][Full Text] [Related]
6. The consequences of incontinentia pigmenti.
Greaves S
Nat Cell Biol; 2000 Aug; 2(8):E144. PubMed ID: 10934485
[No Abstract] [Full Text] [Related]
7. [From gene to disease; incontinentia pigmenti and the NEMO-gene].
Oranje AP; Arts WF; Wagner A; van der Hout AH; Simonsz HJ
Ned Tijdschr Geneeskd; 2005 Jul; 149(30):1682-5. PubMed ID: 16104114
[TBL] [Abstract][Full Text] [Related]
8. Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
Ohnishi H; Kishimoto Y; Taguchi T; Kawamoto N; Nakama M; Kawai T; Nakayama M; Ohara O; Orii K; Fukao T
J Clin Immunol; 2017 Aug; 37(6):529-538. PubMed ID: 28702714
[TBL] [Abstract][Full Text] [Related]
9. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E; Laplantine E; Hamel Y; Dubosclard V; Boisson B; Pescatore A; Picard C; Hadj-Rabia S; Royer G; Steffann J; Bonnefont JP; Ursini VM; Vabres P; Munnich A; Casanova JL; Bodemer C; Weil R; Agou F; Smahi A
J Allergy Clin Immunol; 2017 Dec; 140(6):1671-1682.e2. PubMed ID: 28249776
[TBL] [Abstract][Full Text] [Related]
10. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.
Berlin AL; Paller AS; Chan LS
J Am Acad Dermatol; 2002 Aug; 47(2):169-87; quiz 188-90. PubMed ID: 12140463
[TBL] [Abstract][Full Text] [Related]
11. [Two neonates with vesicular skin lesions due to incontinentia pigmenti].
Winterberg DH; van Tijn DA; Smitt JH; Winterberg S; Vomberg PP
Ned Tijdschr Geneeskd; 2001 Nov; 145(45):2178-82. PubMed ID: 11727618
[TBL] [Abstract][Full Text] [Related]
12. TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2.
Pasparakis M; Courtois G; Hafner M; Schmidt-Supprian M; Nenci A; Toksoy A; Krampert M; Goebeler M; Gillitzer R; Israel A; Krieg T; Rajewsky K; Haase I
Nature; 2002 Jun; 417(6891):861-6. PubMed ID: 12075355
[TBL] [Abstract][Full Text] [Related]
13. 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).
Zonana J; Elder ME; Schneider LC; Orlow SJ; Moss C; Golabi M; Shapira SK; Farndon PA; Wara DW; Emmal SA; Ferguson BM
Am J Hum Genet; 2000 Dec; 67(6):1555-62. PubMed ID: 11047757
[TBL] [Abstract][Full Text] [Related]
14. NEMO/IKK gamma: linking NF-kappa B to human disease.
Courtois G; Smahi A; Israël A
Trends Mol Med; 2001 Oct; 7(10):427-30. PubMed ID: 11597506
[No Abstract] [Full Text] [Related]
15. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
Kenwrick S; Woffendin H; Jakins T; Shuttleworth SG; Mayer E; Greenhalgh L; Whittaker J; Rugolotto S; Bardaro T; Esposito T; D'Urso M; Soli F; Turco A; Smahi A; Hamel-Teillac D; Lyonnet S; Bonnefont JP; Munnich A; Aradhya S; Kashork CD; Shaffer LG; Nelson DL; Levy M; Lewis RA;
Am J Hum Genet; 2001 Dec; 69(6):1210-7. PubMed ID: 11673821
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F; Bardaro T; Fimiani G; Mercadante V; Miano MG; Falco G; Israël A; Courtois G; D'Urso M; Ursini MV
Hum Mol Genet; 2004 Aug; 13(16):1763-73. PubMed ID: 15229184
[TBL] [Abstract][Full Text] [Related]
17. Incontinentia pigmenti in a newborn with NEMO mutation.
Lee Y; Kim S; Kim K; Chang M
J Korean Med Sci; 2011 Feb; 26(2):308-11. PubMed ID: 21286028
[TBL] [Abstract][Full Text] [Related]
18. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Aradhya S; Woffendin H; Jakins T; Bardaro T; Esposito T; Smahi A; Shaw C; Levy M; Munnich A; D'Urso M; Lewis RA; Kenwrick S; Nelson DL
Hum Mol Genet; 2001 Sep; 10(19):2171-9. PubMed ID: 11590134
[TBL] [Abstract][Full Text] [Related]
19. Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI; Pescatore A; Paciolla M; Esposito E; Miano MG; Lioi MB; McAleer MA; Giardino G; Pignata C; Irvine AD; Scheuerle AE; Royer G; Hadj-Rabia S; Bodemer C; Bonnefont JP; Munnich A; Smahi A; Steffann J; Fusco F; Ursini MV
Hum Mutat; 2014 Feb; 35(2):165-77. PubMed ID: 24339369
[TBL] [Abstract][Full Text] [Related]
20. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).
Aradhya S; Courtois G; Rajkovic A; Lewis RA; Levy M; Israël A; Nelson DL
Am J Hum Genet; 2001 Mar; 68(3):765-71. PubMed ID: 11179023
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
