Abstracts - faqs.org

Abstracts

Biological sciences

Search abstracts:
Abstracts » Biological sciences

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

Article Abstract:

Research has been conducted on the Andersen's syndrome characterized by cardiac arrhythmias and dysmorphic features. The mapping of the Andersen's locus to the chromosome near the inward rectifying potassium channel gene has been carried out and the results indicate that mutations in Kir2.1 affect the developmental signaling and cause Andersen's syndrome.

Author: Clark, John, Bendahhou, Said, Ptacek, Louis J., Plaster, Nikki M., Tawil, Rabi, Tristani-Firouzi, Martin, Canun, Sonia, Tsunoda, Akiko, Donaldson, Matthew R., Iannaccone, Susan T., Brunt, Ewout, Barohn, Richard, Deymeer, Feza, George, Alfred L., Jr., Fish, Frank A., Hahn, Angelika, Nitu, Alexandru, Ozdemir, Coskun, Serdaroglu, Piraye, Subramony, S. H., Wolfe, Gil, Fu, Ying-Hui
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
Canada, Netherlands, Mexico, Turkey, Potassium channels, Phenotype, Phenotypes, Chromosomes, Cardia

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA

Defective interplay of activators and repressors with TFIIH in xeroderma pigmentosum

Article Abstract:

Research has been conducted on the inherited mutations of the TFIIH helicase subunits xeroderma pigmentosum. Results indicate that the xeroderma pigmentosum mutations block transcription activation by the FUSE Binding Protein (FBP) and repression by the FBP Interacting Repressor.

Author: Reinberg, Danny, Chuikov, Sergei, Liu, Juhong, Akoulitchev, Sasha, Weber, Achim, Ge, Hui, Libutti, Daniel, Wang, Xin W., Conaway, Joan Weliky, Harris, Curtis C., Conaway, Ronald C., Levens, David
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
Carrier proteins, Transport proteins, Xeroderma pigmentosum

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA


Subjects list: Statistical Data Included, United States, Analysis, Physiological aspects, Gene mutations, Gene mutation, Genetic aspects, Cell research, Cytological research
Similar abstracts:
  • Abstracts: A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hemotological and skeletal phenotype of flexed-tail (f/f) mice
  • Abstracts: Group A rotavirus in sewage samples from Barcelona and Cairo: emergence of unusual genotypes. Potential role of fomites in the vehicular transmission of human astroviruses
  • Abstracts: Replication initiation proteins regulate a developmental checkpoint in Bacillus subtilis
  • Abstracts: Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.
Some parts © 2025 Advameg, Inc.