Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society - 1 May 2002

Slaugenhaupt Susan A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Carrier Proteins
Share to Mutation
Share to Organ Specificity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Transcriptional Elongation Factors

Source

Identifiers

PMID: 12102458
DOI: 10.1007/s102860200015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.PMID 12102458Read ↗

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.Semantic proximity Read ↗

Familial dysautonomia is caused by mutations of the IKAP gene.Semantic proximity Read ↗

IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.Semantic proximity Read ↗

Familial dysautonomia: History, genotype, phenotype and translational research.Semantic proximity Read ↗

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.Semantic proximity Read ↗

Genotype and phenotype in familial dysautonomia.Semantic proximity Read ↗

Comprehensive in silico Analysis of <i>IKBKAP</i> gene that could potentially cause Familial dysautonomiaSemantic proximity Read ↗

The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.Semantic proximity Read ↗

RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.Semantic proximity Read ↗

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation.Semantic proximity Read ↗

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.Semantic proximity Read ↗

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.