نتایج جستجو برای: somatic mutation
تعداد نتایج: 325275 فیلتر نتایج به سال:
PURPOSE Hallmarks of germline BRCA1/2-associated ovarian carcinomas include chemosensitivity and improved survival. The therapeutic impact of somatic BRCA1/2 mutations and mutations in other homologous recombination DNA repair genes is uncertain. EXPERIMENTAL DESIGN Using targeted capture and massively parallel genomic sequencing, we assessed 390 ovarian carcinomas for germline and somatic lo...
The stability of the human genome requires that mutations in the germ line be exceptionally rare events. While most mutations are neutral or have deleterious effects, a limited number of mutations are required for adaptation to environmental changes. Drake has provided evidence that DNA-based microbes have evolved a mechanism to yield a common spontaneous mutation rate of approximately 0.003 mu...
OBJECTIVE To evaluate the detection possibility of TSH receptor gene mutation within the third cytoplasmic loop and the sixth transmembrane domain in the cytological material obtained by means of fine needle biopsy of autonomous and non-autonomous nodules. METHODS The study has been carried out in 16 women with goitre showing no clinical signs of hyperthyroidism. According to the thyroid scin...
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated numbers of double-negative T (DNT) cells, and increased risk of lymphoma. Most cases of ALPS are associated with germline mutations of the FAS gene (type Ia), whereas some cases have been noted to have a somatic mutation of FAS primarily in t...
fibrodysplasia ossificans progressiva (fop, mim 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. the disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. in this study, a 17 year-old affected girl born to a father with...
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