The importance of rare diseases: from the gene to society.
نویسندگان
چکیده
منابع مشابه
In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene
Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters...
متن کاملMolecular Modelling and Evaluation of Hidden Information in ABCB11 Gene Mutations
Background: Cholestatic disorders are divided in the extra and intra-hepatic that created due to the severe liver diseases. ABCB11 encodes the bile salt export pump and this gene is mutated in several forms of intrahepatic cholestasis. So far, some molecular features of this gene was studies.Objective: Using a developed web server, we identified high number of rare codons in this gene, and four...
متن کاملMolecular Identification of Rare Clinical Mycobacteria by Application of 16S-23S Spacer Region Sequencing
Objective(s) In addition to several molecular methods and in particular 16S rDNA analysis, the application of a more discriminatory genetic marker, i.e., 16S-23S internal transcribed spacer gene sequence has had a great impact on identification and classification of mycobacteria. In the current study we aimed to apply this sequencing power to conclusive identification of some Iranian clinical ...
متن کاملIdentification and Characterization of a High Vancomycin-Resistant Staphylococcus aureus Harboring VanA Gene Cluster Isolated from Diabetic Foot Ulcer
Objective(s) Staphylococcus aureus is a common cause of human infection, and emergence of vancomycin-resistance S. aureus is a great concern for treatment of methicillin-resistant S. aureus,(MRSA) in recent years (MRSA). Here, we report the isolation of high-level VRSA. Materials and Methods S. aureus was isolated from foot ulcer of a diabetic woman in Tehran, Iran. Antibiotic susceptibilit...
متن کاملIdentification of the Rare, Four Repeat Allele of IL-4 Intron-3 VNTR Polymorphism in Indian Populations
Background: Cytokines are cell signaling molecules which upon release by cells facilitate the recruitment of immune-modulatory cells towards the sites of inflammation. Genetic variations in cytokine genes are shown to regulate their production and affect the risk of infectious as well as autoimmune diseases. Intron-3 of interleukin-4 gene (IL-4) harbors 70-bp variable number of tandem repeats (...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 96 9 شماره
صفحات -
تاریخ انتشار 2011