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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Iranian Journal of Basic Medical Sciences
- نوع مقاله: Journal Article
- کلمات کلیدی: Corneal dystrophy Iran Next,generation sequencing Pathogenic variant TGFBI
- چکیده:
- چکیده انگلیسی: Objective(s): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.
Materials and Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Co-segregation and in silico analysis was accomplished.
Results: Patients suffered from GCD. NGS disclosed a known pathogenic variant, c.371G>A (p.R124H), in exon 4 of TGFBI. The variant co-segregated with the phenotype in the family. Homozygous patients manifested with more severe phenotypes. Variable expressivity was observed among heterozygous patients.
Conclusion: The results, in accordance with previous studies, indicate that the c.371G>A in TGFBI is associated with GCD. Some phenotypic variations are related to factors such as modifier genes, reduced penetrance and environmental effects.- انتشار مقاله: 18-09-1397
- نویسندگان: Aliasgar Mohammadi,Aazam Ahmadi Shadmehri,Mahnaz Taghavi,Gholamhossein Yaghoobi,Mohammad Reza Pourreza,Mohammad Amin Tabatabaiefar
- مشاهده
- جایگاه : پژوهشی
- مجله: Iranian Journal of Basic Medical Sciences
- نوع مقاله: Journal Article
- کلمات کلیدی: Corneal dystrophy Iran Next,generation sequencing Pathogenic variant TGFBI
- چکیده:
- چکیده انگلیسی: Objective(s): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.
Materials and Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Co-segregation and in silico analysis was accomplished.
Results: Patients suffered from GCD. NGS disclosed a known pathogenic variant, c.371G>A (p.R124H), in exon 4 of TGFBI. The variant co-segregated with the phenotype in the family. Homozygous patients manifested with more severe phenotypes. Variable expressivity was observed among heterozygous patients.
Conclusion: The results, in accordance with previous studies, indicate that the c.371G>A in TGFBI is associated with GCD. Some phenotypic variations are related to factors such as modifier genes, reduced penetrance and environmental effects.- انتشار مقاله: 18-09-1397
- نویسندگان: Aliasgar Mohammadi,Aazam Ahmadi Shadmehri,Mahnaz Taghavi,Gholamhossein Yaghoobi,Mohammad Reza Pourreza,Mohammad Amin Tabatabaiefar
- مشاهده
- جایگاه : پژوهشی
- مجله: Iranian Journal of Basic Medical Sciences
- نوع مقاله: Journal Article
- کلمات کلیدی: Iran,Mutation,Hearing loss,Linkage analysis,MYO15A
- چکیده:
- چکیده انگلیسی: Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide.
Materials and Methods: the aim of the present study was to determine the role of MYO15A gene mutations in Iranian families. Thirty Iranian families with over three deaf children and negative for GJB2 using genetic linkage analysis (GLA), followed by mutation screening by DNA sequencing were enrolled.
Results: One family (3.33%) showed linkage to DFNB3 and a novel mutation was identified in the MYO15A gene (c.6442T>A) as the disease-causing mutation. Mutation co-segregated with hearing loss in the family but was not present in the 100 ethnicity-matched controls.
Conclusion: Our results confirmed that the hearing loss of the linked Iranian family was caused by a novel missense mutation in the MYO15A gene. This mutation is the first to be reported in the world and affects the first MyTH4 domain of the protein.- انتشار مقاله: 17-05-1395
- نویسندگان: Somayeh Reiisi,Mohammad Amin Tabatabaiefar,Mohammad Hosein Sanati,Morteza Hashemzadeh Chaleshtori
- مشاهده
- جایگاه : پژوهشی
- مجله: Advance Researches in Civil Engineering
- نوع مقاله: Journal Article
- کلمات کلیدی: Piano keys sound,Artificial acceleration,Response Spectrum,Frequency content,Correlation coefficient
- چکیده:
- چکیده انگلیسی: Today, one of the most important issues in designing of structures is their reliability and functional design. In order to obtain reliability, different parameters of the earthquake history are considered as probabilistic and that their effects on the reliability of the structures. In fact, it is necessary to consider all possible scenarios in the earthquake event in the probability of failure of the structure, which is recorded using natural ground motions. In response to this engineering requirements, the use of simulated artificial earthquake records is one alternative. Therefore the most important point in using artificial records is to use a model that can more effectively capture the effective parameters in earthquake production. In this case, by obtaining uncertainties regarding the efficient parameters in that model, it is possible to produce an accidental earthquake production. In this study, the use of piano keys was applied as an artificial record. To achieve this goal, 6 pieces of a piano-sounded that has an initial landing, up and then secondary landing are selected. To compare the results, the 6 ground motion records of near field with pulse effect and 6 ground motion records of far field for soil type II was extracted from the PEER site . In order to compare the records, the response spectrum and their correlation were used. The results showed that the correlation between the selected artificial records for the far field of faults is more than near field.
- انتشار مقاله: 14-01-1399
- نویسندگان: Ali Kia,Reza Kia,Amin Bai
- مشاهده