نتایج جستجو برای: frameshift mutations
تعداد نتایج: 174767 فیلتر نتایج به سال:
In some enterobacterial pathogens, but not in Escherichia coli, loss-of-function mutations are a common route to clinically relevant beta-lactam antibiotic resistance. We previously constructed an assay system for studying enterobacterial beta-lactam resistance mutations using the well-developed genetics of E. coli by integrating enterobacterial ampRC genes into the E. coli chromosome. Like the...
Background: Breast cancer is the most common malignancy and leading cause of death among women in Bangladesh. Mutations BRCA genes increase risk for breast cancer. A large number distinct mutations polymorphisms BRCA1 gene have been reported worldwide, a frameshift mutation exon 2 (185delAG) one commonly mutations. Therefore, study was planned to determine frequencies 2. Materials Methods: cros...
Adaptive frameshift mutations in the lacZ gene of Escherichia coli are, unusually, nearly all short deletions, perhaps caused by slipped-strand mispairings in mononucleotide runs. But are they directed?
Background: It is well-established that myeloproliferative diseases coexist with CLAR and JAK2. In Ph+ chronic myeloid leukemia (CML), only a few case reports indicate the existence of CLAR, JAK2V617F, JAK2 exon 12 mutations. Methods: This study examined CALR mutation profiles in Sudanese Chronic Myeloid Leukemia patients Philadelphia-positive patients. Blood samples were collected from 100 CML...
Hereditary hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to hypertonia and apnea episodes. Missense, nonsense, frameshift, splice site mutations, and large deletions in the human glycine receptor α1 subunit gene (GLRA1) are the major known cause of this disorder. However, mutations are also found in the genes...
OBJECTIVE To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. METHODS Fifty-four patients with Cornelia de Lange syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the s...
HYPOTHESIS Multiple endocrine neoplasia type 1 (MEN 1) syndrome is an autosomal dominant disorder caused by germline mutations in the MEN1 gene and characterized by multiple endocrine tumors, most notably in the parathyroid glands, pituitary, and pancreas. The syndrome demonstrates variable expressivity and considerable genetic heterogeneity. Patient data were examined for possible associations...
A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops intestinal abnormalities reminiscent of human Peutz-Jeghers syndrome (PJS) and juvenile polyposis (JP). To examine the role of MYH11 in human intestinal neoplasia, we searched for MYH11 mutations in patients...
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