نتایج جستجو برای: somatic mutation

تعداد نتایج: 325275  

Journal: :Proceedings of the National Academy of Sciences 1936

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2014
Kathryn P Pennington Tom Walsh Maria I Harrell Ming K Lee Christopher C Pennil Mara H Rendi Anne Thornton Barbara M Norquist Silvia Casadei Alexander S Nord Kathy J Agnew Colin C Pritchard Sheena Scroggins Rochelle L Garcia Mary-Claire King Elizabeth M Swisher

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...

Journal: :Genetics 1998
A L Jackson L A Loeb

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...

Journal: :Endocrine regulations 1999
A Syrenicz G Kurzawski A Ciechanowicz

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...

Journal: :Blood 2010
Kennichi C Dowdell Julie E Niemela Susan Price Joie Davis Ronald L Hornung João Bosco Oliveira Jennifer M Puck Elaine S Jaffe Stefania Pittaluga Jeffrey I Cohen Thomas A Fleisher V Koneti Rao

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...

Journal: :cell journal 0

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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