نتایج جستجو برای: binding protein c mutation
تعداد نتایج: 2414558 فیلتر نتایج به سال:
background: hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. it comes from mutations in sarcomeric proteins. cardiac myosin-binding protein c3 is one of the critical genes in hypertrophic cardiomyopathy (hcm) and sudden cardiac death, accounting for about 20% of hcm-causing mutations. genetic testing is recommended in patients with hcm....
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...
Mutations in the ergosterol biosynthesis gene 11 (ERG11) of Candida albicans have been frequently reported in fluconazole-resistant clinical isolates. Exploring the mutations and their effect could provide new insights into the underlying mechanism of fluconazole resistance. Erg11p_Threonine285Alanine (Erg11p_THR285ALA), Erg11p_Leucine321Phenylalanine (Erg11p_LEU321PHE) and Erg11p_Serine457Pro...
the antidiuretic effect of arginine vasopressin (avp) is mediated by the vasopressin v2 receptor. the docking study of avp as a ligand to v2 receptor helps in identifying important amino acid residues that might be involved in avp binding for predicting the lowest free energy state of the protein complex. whereas previous researchers were not able to detect the exact site of the ligand-receptor...
Background: The present study has been designed with the aim of evaluating A-kinase anchoring proteins 3 (AKAP3)and Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 3 (PLOD3) gene mutations and prediction of 3D proteinstructure for ligand binding activity in the cases of non-obstructive azoospermic male.Materials and Methods: Clinically diagnosed cases of non-obstructive azoos...
Background: Male infertility has many causes, including genetic infertility. The NOP2/Sun domain family, member7 (Nsun7) gene, which encodes putative methyltransferase Nsun7, has a role in sperm motility. The aim of the present study was to investigate the effect of the T26248G polymorphism on Nsun7 protein function and its role in male infertility. Materials and Methods: Semen samples were col...
Point mutation G143A in the cytochrome b (Cyt b) protein commonly confers resistance to quinone outside inhibitor (QoI) fungicides phytopathogenic fungi, including Corynespora cassiicola, which causes cucumber target spot disease. However, effect of on binding between QoI fungicide and Cyt protein, use LAMP (loop-mediated isothermal amplification) detect this point had not been reported previou...
Background: Male infertility has many causes, including genetic infertility. The NOP2/Sun domain family, member7 (Nsun7) gene, which encodes putative methyltransferase Nsun7, has a role in sperm motility. The aim of the present study was to investigate the effect of the T26248G polymorphism on Nsun7 protein function and its role in male infertility. Materials and Methods: Semen samples were col...
tp53 binding to brca1 and rad51 in mcf7 and mda-mb-468 breast cancer cell lines in vivo and in vitro
background: tumour suppressor genes such as tp53, brca1 and rad51 are involved in dna repair and their malfunctions result in genomic instability and cancer. wild type (wt) tp53 binds to brca1and rad51 in vivo and in vitro. however, mutated tp53 in tumours can interfere with wt tp53 function. we studied how mutation of tp53 in mda-mb-468 cell line could affect its binding capacity and interfere...
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