Abstracts - faqs.org

Abstracts

Health

Search abstracts:
Abstracts » Health

Hemoglobin Jamaica plain-A sickling hemoglobin with reduced oxygen affinity

Article Abstract:

Mutation in the gene encoding the beta chain of hemoglobin results in the substitution of valine for glutamic acid at position 6 and such patients are symptomatic of sickle cell anemia and hypoxemia. Structural modeling reveals destabilization of the oxy conformation as a molecular mechanism for sickling in a heterozygote at an ambient partial pressure of oxygen.

Author: Neufeld, Ellis J., Geva, Alon, Clark, Jennifer J., Yuxun Zhang, Popowicz, Anthony;, Manning, James M.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2004
England, Hemoglobin, Hemoglobins, Glutamate, Dosage and administration

User Contributions:

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

CAPTCHA


Congenital glutamine deficiency with glutamine synthetase mutations

Article Abstract:

A report is presented on two unrelated new-borns affected by congenital human glutamine synthetase deficiency with acute brain deformities, which cause multi-organ failure and neonatal mortality. Studies employing immortalized lymphocytes indicate that these mutations are related to minimized glutamine synthetase activity.

Author: Rutsch, Frank, Haussinger, Dieter, Haberle, Johannes, Gorg, Boris, Schmidt, Eva, Toutain, Annick, Benoist, Jean-Francois, Gelot, Antoinette, uc, Annie-Laure, Hohne, Wolfgang, Schliess, Freimut, Koch, Hans G.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2005
United Kingdom, Glutamine, Cognition in infants, Infant cognition

User Contributions:

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

CAPTCHA


Artificial sweeteners-enhancing glycosylation to treat muscular dystrophies

Article Abstract:

A large number of genetic mutations that cause muscular dystrophies are discussed. The study shows that overexpression of a glycosyltransferase, a type of enzyme that adds sugar residues to cellular proteins, resulted in the functional rescue of dystrophic muscle cells.

Author: Rando, Thomas A.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2004
Methods, Proteins, Glycosylation, Chemical properties

User Contributions:

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

CAPTCHA


Subjects list: Research, Gene mutations, Gene mutation
Similar abstracts:
  • Abstracts: Recombinant human leptin in women with hypothalamic amenorrhea. Body fat, leptin, and hypothalamic amenorrhea
  • Abstracts: Putting technology in place successfully. Sublingual hematoma formation during immediate placement of mandibular endossesous implants
  • Abstracts: Mutation of perinatal myosin heavy chain associated with a carney complex variant. Myosin at the heart of the problem
  • Abstracts: Squamous cell carcinoma arising in an oral lichenoid lesion. A simulated-use evaluation of a strategy for preventing biofilm formation in dental unit waterlines
  • Abstracts: The primary immunodeficiencies. Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate
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.