Found: 13
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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.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 458, doi. 10.1007/s00439-005-0068-y
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- Publication type:
- Article
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1260, doi. 10.1093/hmg/ddr556
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- Publication type:
- Article
Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti.
- Published in:
- Nature Communications, 2016, v. 7, n. 9, p. 12629, doi. 10.1038/ncomms12629
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- Publication type:
- Article
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 277
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- Publication type:
- Article
Mutation in IL36RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1114, doi. 10.1111/exd.13387
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- Publication type:
- Article
TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3751, doi. 10.1093/hmg/ddi405
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- Publication type:
- Article
The NF-κB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 20, p. 2371, doi. 10.1093/hmg/11.20.2371
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- Publication type:
- Article
Insight into IKBKG/ NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease.
- Published in:
- Human Mutation, 2014, v. 35, n. 2, p. 165, doi. 10.1002/humu.22483
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- Publication type:
- Article
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
- Published in:
- 2008
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- Publication type:
- Other
ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02054-9
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- Publication type:
- Article
Successful Treatment of Generalized Pustular Psoriasis With the Interleukin-1-Receptor Antagonist Anakinra: Lack of Correlation With IL1RN Mutations.
- Published in:
- Annals of Internal Medicine, 2010, v. 153, n. 1, p. 66, doi. 10.7326/0003-4819-153-1-201007060-00030
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- Publication type:
- Article
A Novel Missense Mutation in the Gene EDARADD Associated with an Unusual Phenotype of Hypohidrotic Ectodermal Dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 249, doi. 10.1002/ajmg.a.37412
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- Publication type:
- Article
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
- Published in:
- 2019
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- Publication type:
- Abstract