Characterization of Tumor-associated Chk2 Mutations
نویسندگان
چکیده
منابع مشابه
Myeloproliferative disorders and its associated mutations
Myeloproliferative Neoplasm (MPN) are a clonal disorder in hematopoietic stem cells (HSC). MPN is categorized to 8 subclasses, including chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocytopenia (ET), primary myelofibrosis (PMF), systematic mastositosis (SM), chronic eosinophilic leukemia (CEL), chronic neutrophilic leukemia (CNL), and unclassified myelofibrosis disorde...
متن کاملTumor-associated mutations of rat mitochondrial transfer RNA genes.
Mitochondrial DNA is a sensitive target of chemical carcinogens (Backer and Weinstein (1980) Science 209, 297-299), suggesting that mutations of the mitochondrial genome occur in tumor cells. We examined this point by comparing mitochondrial DNA sequences in four rat tumors with those of normal rat liver. Some novel mutations found in the tRNA genes of tumor mitochondria were as follows: nucleo...
متن کاملEffects of tumor-associated mutations on Rad54 functions.
Yeast RAD54 gene, a member of the RAD52 epistasis group, plays an important role in homologous recombination and DNA double strand break repair. Rad54 belongs to the Snf2/Swi2 protein family, and it possesses a robust DNA-dependent ATPase activity, uses free energy from ATP hydrolysis to supercoil DNA, and cooperates with the Rad51 recombinase in DNA joint formation. There are two RAD54-homolog...
متن کاملCharacterization of Disease-Associated Mutations in Human Transmembrane Proteins
Transmembrane protein coding genes are commonly associated with human diseases. We characterized disease causing mutations and natural polymorphisms in transmembrane proteins by mapping missense genetic variations from the UniProt database on the transmembrane protein topology listed in the Human Transmembrane Proteome database. We found characteristic differences in the spectrum of amino acid ...
متن کاملO-43: Mutations in NR5A1 Associated withOvarian Insufficiency
Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2001
ISSN: 0021-9258
DOI: 10.1074/jbc.m009727200