ArticleAmerican journal of human genetics2001
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed.
- Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Journal of clinical immunology · 2024Article
- An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.Journal of clinical immunology · 2023Article
- Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study.Signal transduction and targeted therapy · 2020Review
- Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.Journal of clinical immunology · 2017Article
- Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.Annals of the New York Academy of Sciences · 2011Review
- NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.The Journal of allergy and clinical immunology · 2011Article
- Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.The Journal of allergy and clinical immunology · 2008Article
- The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.American journal of human genetics · 2006Article
- A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.Human genetics · 2005Article
- Mutation identification in a canine model of X-linked ectodermal dysplasia.Mammalian genome : official journal of the International Mammalian Genome Society · 2005Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.