نتایج جستجو برای: cgdh gene mutation
تعداد نتایج: 1284712 فیلتر نتایج به سال:
conclusions bioinformatics analyses using sift, mutation taster and polyphen-2 indicated that p.ile563val was predicted to be damaging, disease causing, and probably damaging to and causing ldb3 dysfunction. as such, this mutation produces novel protein coding transcripts, which might explain the mfm phenotype in the patient. introduction myofibrillar myopathy (mfm) is a rare human disease, cha...
Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...
Background: Breast cancer is one of the most common cancer of women in the world. Although different genetic alteration has been reported in this malignancy, but P 53 gene mutations has more frequency. P 53 gene is one of the most important suppressor genes and it play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
Aicardi-Goutieres syndrome (AGS) is an inflammatory genetic disease inherited in an autosomal recessive manner. Common features of this disease are encephalopathy, splenomegaly and hepatomegaly, muscle stiffness, irritability, unstoppable crying, seizures and dilation in growth. According to previous studies, primary genes responsible for this Syndromes are as followed: TREX 1, RNASEH2A, RNASEH...
Background and Aims: lamivudine is amongst the antiviral for drug chronic hepatitis B treatment. During therapy with lamivudine, variants may emerge with YMDD mutation in the reverse transcriptase (RT) region of polymerase gene. This mutation might have a role in drug resistant for HBV. Materials and Methods: HBV DNA extraction from serum sample of 88 patients, were subjected to nested PCR for ...
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...
mara activates two membrane dependent mechanisms of resistance to different antibiotics, such as ciprofloxacin and tetracycline, including promotion of outflux and inhibition of influx of antibiotics. thus, mara causes multiple antibiotic resistance phenotype. the activation of these mechanisms needs overexpression of mara. this could happen through mutation in marr. thus, the aim of this study...
zebra fish were exposed to environmentally relevant concentration of pesticides and metals fora period of 14 days. the individual and the combined toxicity of pesticides and metals were studied. damage caused to the dna and induction of mutation in the gadd45β gene was investigated in this study. the present investigation revealed that exposure of zebra fish to pesticides and metals induced dna...
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