Familial dysautonomia (Q28205988)

Current Opinion in Genetics & Development

Europe PubMed Central

title

Familial dysautonomia (English)

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2

James F Gusella

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author name string

Susan A Slaugenhaupt

series ordinal

1

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language of work or name

English

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publication date

June 2002

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published in

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volume

12

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issue

3

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page(s)

307-11

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cites work

Incidence of familial dysautonomia in Israel 1977-1981

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Ictal SPECT during autonomic crisis in familial dysautonomia

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Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

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Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

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7 January 2021

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

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Familial dysautonomia is caused by mutations of the IKAP gene

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Initial sequencing and analysis of the human genome

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The Sequence of the Human Genome

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Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF.

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Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation.

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IKAP is a scaffold protein of the IkappaB kinase complex

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The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.

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Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

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RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes

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A multiprotein complex that interacts with RNA polymerase II elongator

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Characterization of a six-subunit holo-elongator complex required for the regulated expression of a group of genes in Saccharomyces cerevisiae

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Purification and characterization of the human elongator complex

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Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children

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Cloning, characterization, and genomic structure of the mouse Ikbkap gene

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