| 1 | IKBKG, IP2
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| Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.
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| Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D'Antuono G, Gelmini C, Garavelli L, Ursini MV.
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| PLoS One 9(1):e87771. doi: 10.1371/journal.pone.0087771. eCollection 2014.
2014
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| 2 | IKBKG, IP2
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| A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.
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| Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drögemüller C, Goodship JA, Clarke AJ, Leeb T.
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| PLoS One 8(12):e81625. doi: 10.1371/journal.pone.0081625. eCollection 2013.
2013
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| 3 | IKBKG, IP2
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| Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
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| Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV.
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| Hum Mol Genet 21(6):1260-71. Epub 2011 Nov 25.
2012
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| 4 | IKBKG, IP2, TRAF6
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| Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.
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| Gautheron J, Pescatore A, Fusco F, Esposito E, Yamaoka S, Agou F, Ursini MV, Courtois G.
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| Hum Mol Genet 19(16):3138-49. Epub 2010 Jun 7.PMID: 20529958 2010
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| 5 | IKBKG, IP2
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| Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.
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| Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, Ursini MV.
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| Hum Mutat 30(9):1284-91.PMID: 19603533 2009
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| 6 | IKBKG, IP2, OLEDAID, EDAID
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| Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
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| Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV.
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| Hum Mutat 29(5):595-604. 2008
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| 7 | IKBKG, IP2
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| Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene.
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| Has C, Danescu S, Volz A, Nöh F, Technau K, Bruckner-Tuderman L.
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| Br J Dermatol 156(2):392-3. Review. No abstract available.
2007
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| 8 | IKBKG, IP2
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| Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.
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| Nenci A, Huth M, Funteh A, Schmidt-Supprian M, Bloch W, Metzger D, Chambon P, Rajewsky K, Krieg T, Haase I, Pasparakis M.
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| Hum Mol Genet 15(4):531-42. Epub 2006 Jan 6. 2006
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| 9 | IP2, IKBKG, OLEDAID
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| The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
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| Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Doffinger R, Bonnet M, Filipe-Santos O, Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL.
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| Am J Hum Genet 78(4):691-701. Epub 2006 Feb 15. 2006
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| 10 | IKBKG, IP2
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| A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
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| Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N.
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| Hum Genet 118(3-4):458-65. Epub 2005 Oct 14. 2005
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| 11 | IKBKG, IP2
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| Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
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| Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israel A, Courtois G, D'Urso M, Ursini MV.
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| Hum Mol Genet 13(16):1763-73. Epub 2004 Jun 30. 2004
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| 12 | IKBKG, IP2
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| A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
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| 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.
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| Hum Mol Genet 10(19):2171-9. 2001
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| 13 | IP2
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| Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
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| 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; International IP Consortium.
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| Am J Hum Genet 69(6):1210-7. 2001
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| 14 | IKBKG, IP2
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| Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
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| Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israel 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.
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| Nature 405(6785):466-72. 2000
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| 15 | IP2
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| Linkage analysis in 16 families with incontinentia pigmenti.
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| Jouet M, Stewart H, Landy S, Yates J, Yong SL, Harris A, Garret C, Hatchwell E, Read A, Donnai D, Kenwrick S.
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| Eur J Hum Genet 5(3):168-70. 1997
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| 16 | IP2
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| [Spontaneous abortion of male fetuses with incontinentia pigmenti].
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| Odent S, Le Marec B, Smahi A, Hors-Cayla C, Milon J, Jouan H, Laurent MC, Borg AM.
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| J Gynecol Obstet Biol Reprod (Paris) 26(6):633-6. French. 1997
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| 17 | CDPX2A, IP2, XAP103, NSDHL, ZFP92
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| A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.
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| Levin ML, et al.
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| Genome Res 6 : 465-477. 1996
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| 18 | IP2
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| Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2.
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| Parrish JE, et al.
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| Hum Mol Genet 5 : 1777-1783. 1996
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| 19 | IP2, PHF10
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| Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28.
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| Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A.
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| Genome Res 6(10):922-34. 1996
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| 20 | IP2
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| The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.
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| Smahi A, et al.
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| Hum Mol Genet 3 : 273-278. 1994
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| 21 | BGN, CDPX2A, DKC1, IP2
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| Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.
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| Das S, et al.
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| Am J Hum Genet 54 : 922-925. 1994
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| 22 | IP2
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| Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.
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| Hyden-Granskog C, et al.
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| Hum Genet 91 : 185-189. 1993
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| 23 | IP2
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| Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.
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| Sefiani A, et al.
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| Hum Genet 86 : 297-299. 1991
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| 24 | IP2
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| The gene for incontinentia pigmenti is assigned to Xq28.
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| Sefiani A, et al.
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| Genomics 4 : 427-429. 1989
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| 25 | IP2
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| Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.
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| Sefiani A, et al.
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| Ann Genet 32 : 149-151. 1989
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| 26 | IP2, DXS94
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| The gene for incontinentia pigmenti : failure of linkage studies using DNA probes to confirm cytogenetic localization.
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| Harris A, et al.
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| Clin Genet 34 : 1-6. 1988
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| 27 | IP2
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| Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.
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| Sefiani A, et al.
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| Hum Genet 80 : 282-286. 1988
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