نتایج جستجو برای: genetic mutation

تعداد نتایج: 825720  

Background: The immune antigen of Bacillus anthracis is a protein that can attach to the surface receptor of all human cells. At the surface of cancer cells, there is a receptor that activates the uPA (Urokinase plasminogen) that do not exist in normal human cells. Objectives: The aim of this study was changing the location of the attachment of the PA gene by a dir...

Background: The immune antigen of Bacillus anthracis is a protein that can attach to the surface receptor of all human cells. At the surface of cancer cells, there is a receptor that activates the uPA (Urokinase plasminogen) that do not exist in normal human cells. Objectives: The aim of this study was changing the location of the attachment of the PA gene by a dir...

Journal: :reports of biochemistry and molecular biology 0
fatemeh keify pardis clinical and genetics laboratory, mashhad, iran. mohsen azimi-nezhad pardis clinical and genetics laboratory, mashhad, iran - department of medical genetics, school of medicine, mashhad university of medical sciences, mashhad, iran - université de lorraine, unité de recherche “interactions gène-environnement en physiopathologie cardio vasculaire” l’umr inserm u 1122, ige-pcv, nancy, france. narges zhiyan-abed pardis clinical and genetics laboratory, mashhad, iran - razavi’s social welfare organization, mashhad, iran. mojila nasseri pardis clinical and genetics laboratory, mashhad, iran. mohammad reza abbaszadegan tel: +98 5117112343; fax: +98 5117112343

background: thrombophilia is a main predisposition to thrombosis due to a procoagulant state. several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. these thrombophilic mutations are methylenetetrahydrofolate reductase (mthfr, c677t, and a1298c), factor v leiden (g1691a), prothrombin gene mutation (factor ii, g20210a), and plasminogen...

Journal: :Oncology in Clinical Practice 2023

Breast cancer is the most common neoplasm among women in Poland and worldwide. Approximately 8000 die from breast each year. It second leading cause of cancer-related deaths Polish women, following lung cancer. This highly heterogeneous terms morphology as well molecular characteristics, it requires different therapeutic approaches. Several risk factors for have been identified, including genet...

Journal: :Alzheimers & Dementia 2021

Abstract Background Prior studies of prodromal genetic frontotemporal dementia (FTD) have identified impaired executive function and social cognition in C9orf72 GRN mutation carriers but few cognitive deficits been found MAPT carriers. Method We investigated performance on the Boston Naming Test (BNT) GENetic Frontotemporal Initiative (GENFI) cohort 499 248 negative controls divided across thre...

Faezeh Ghaderi Majid Fardaei, Reza Ghaderi Somaye Hekmat

The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...

Journal: :modares journal of medical sciences: pathobiology 2014
mojgan ataei-kachouei javad nadaf mohammad taghi akbari morteza atri jacek majewski

objective: since the identification of the two highly penetrant dominantly inherited genes, brca1/2, in the 1990s, a number of other genes have been identified which account for approximately 25% of the genetic basis for hereditary breast cancer. at least 75% are unidentified. the goal of this study is to investigate the presence or absence of a recessive pattern of inheritance in this heteroge...

Journal: :International journal of clinical and experimental medicine 2015
Mayinur Eli Ablikim Mollayup Muattar Chao Liu Chao Zheng Yong-Xing Bao

To investigate the K-ras genetic mutation status in colorectal cancer patients, compare the difference of K-ras genetic mutation rate in Han and Uygur nationality and analyze the influencing factor. 91 cases (52 cases of Han nationality and 39 cases of Uygur nationality) of colorectal biopsy or surgical ablation pathology specimen from the first affiliated hospital of Xinjiang Medical Universit...

Evidence showed that chemokines serve as pro-migratory factors for immune cells. CCL3, CCL4 and CCL5, as the main CC  chemokines subfamily members, activate immune cells through binding to CC chemokine receptor 5 or CCR5. Macrophages, NK cells and T lymphocytes express CCR5 and thus, affected CCR5 expression or functions could be associated with altered immune responses. Deletion of 32 base pai...

Journal: :iranian journal of basic medical sciences 0
azadeh lohrasbi nejad department of biotechnology, research institute for environmental sciences, international centre for science, high technology and environmental sciences, kerman, iran mohammad mehdi yaghoobi department of biotechnology, research institute for environmental sciences, international centre for science, high technology and environmental sciences, kerman, iran

objective(s) p53 is an important tumor suppressor, which is mutated in later stages of many cancers and leads to resistance to chemotherapy. the aim of this study was to reveal mutations of tp53 in colorectal cancer in kerman province. materials and methods a total of forty-three colon cancer specimens as paraffin block or fresh tissues, which passed stage iiia, were selected. three exons 5, 7 ...

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