Abstracts - faqs.org

Abstracts

Biological sciences

Search abstracts:
Abstracts » Biological sciences

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

Article Abstract:

A consortium of American and European groups assigned Fanconi anemia to 29 patients to complementation group FA-D2 to study the hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2. The analysis found that total absence of FAND2 does not exist in FA-D2 patients because of constraints on viable combinations of FANCD2 mutations.

Author: Gluckman, Eliane, Grompe, Markus, Pals, Gerard, Joenje, Hans, Auerbach, Arleen D., Berwick, Marianne, Surralles, Jordi, Callen, Elsa, Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, Hunt, Curtis, Casado, Jose A., Bueren, Juan, Dasi, Angeles, Soulier, Jean, van Spaendonk, Rosalina, de Winter, Johan P., Hanenberg, Helmut, Schindler, Detlev
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Science & research, Research, Analysis, Gene mutations, Gene mutation, Fanconi's anemia, Immunoblotting

User Contributions:

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

CAPTCHA

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

Article Abstract:

Research has been conducted on Falconi anemia characterized by its hypersensitivity to DNA damage. The function of Fanconi anemia pathway has been investigated via the study of the distally acting Fanconi anemia gene Fancd2, and the mice homozygous phenotype for Fancd2 locus null allele has been analyzed.

Author: Grompe, Markus, Jones, Stephen N., Finegold, Milton J., Houghtailing, Scott, Timmers, Cynthia, Noll, Meenakshi, Meyn, M. Stephen
Publisher: Cold Spring Harbor Laboratory Press
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2003
Canada, Causes of, Phenotype, Phenotypes, Allelomorphism, Alleles, Epithelium, Epithelial tumors, Epithelial tumours

User Contributions:

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

CAPTCHA

Two checkpoint complexes are independently recruited to sites of DNA damage in vivo

Article Abstract:

Results indicate that Ddc1 and Ddc2 are deployed to sites of DNA damage but their localilization to subnuclear foci differs. Ddc2 localization does not involve any checkpoint genes, whereas Ddc1 localization requires Rad17, Mec3, and Rad24 checkpoint genes.

Author: Melo, Justine A., Cohen, Jen, Toczyski, David P.
Publisher: Cold Spring Harbor Laboratory Press
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2001
Genetic toxicology

User Contributions:

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

CAPTCHA


Subjects list: United States, DNA damage, Physiological aspects, Genetic aspects, Genetic regulation
Similar abstracts:
  • Abstracts: Application of the shsp gene, encoding a small heat shock protein, as a food-grade selection marker for lactic acid bacteria
  • Abstracts: The metabolic pathway of 4-aminophenol in Burkholderia sp. strain AK-5 differs from that of aniline and aniline with C-4 substituents
  • Abstracts: Solution structure of anti-HIV-1 and anti-tumor protein MAP30: structural insights into its multiple functions
  • Abstracts: Homofermentive lactate production cannot sustain anaerobic growth of engineered saccharomyces cerevisiae: Possible consequence of energy-dependent lactate export
  • Abstracts: Effects of mutations in the substrate-binding domain of poly[(R)-3-hydroxybutyrate] (PHB) depolymerase from Ralstonia pickettii T1 on PHB degradation
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.