Search

Your search keyword '"Farzaneh, Motamed"' showing total 2 results
Start Over Author "Farzaneh, Motamed" Publisher informa uk limited
2 results on '"Farzaneh, Motamed"'

1. Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)

Author

Alireza Mahdaviani, Farzaneh Motamed, Hossein Alimadadi, Samaneh Zoghi, Elham Rayzan, Majid Aflatoonian, Marzieh Tavakol, Daniel Kotlarz, A. Rezaei, Pejman Rohani, Zahra Chavoshzadeh, Farzaneh Rahmani, Zahra Aryan, Nima Rezaei, Meino Rohlfs, Tim Jeske, Mehri Najafi, Mirjam Vanderberg, Fatemeh Farahmand, Sepideh Shahkarami, Mahboubeh Mansouri, Mohammad Reza Rahmani, and Christoph Klein

Subjects
Diarrhea, Male, 0301 basic medicine, medicine.medical_specialty, Primary Immunodeficiency Diseases, Immunology, G6PC3, Iran, Inflammatory bowel disease, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Exome Sequencing, Humans, Medicine, Receptors, Interleukin-10, Registries, Exome, Exome sequencing, business.industry, Infant, Newborn, Infant, General Medicine, Inflammatory Bowel Diseases, medicine.disease, digestive system diseases, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Cohort, Mutation (genetic algorithm), Primary immunodeficiency, Female, business
Abstract

We describe a cohort of 25 Iranian patients with infantile inflammatory bowel disease (IBD), 14 (56%) of whom had monogenic defects. After proper screening, patients were referred for whole exome sequencing (WES). Four patients had missense mutations in the

Published
2020
Full Text
View/download PDF

2. IL4gene polymorphisms in Iranian patients with autoimmune hepatitis

Author

Farnaz Najmi Varzaneh, Fatemeh Farahmand, Farzaneh Motamed, Elham Mahmoudi, Behnoud Baradaran Noveiry, Mehri Najafi, Maryam Sadr, Nima Rezaei, Alireza Zare Bidoki, and Azizollah Yousefi

Subjects
Male, 0301 basic medicine, Heterozygote, Autoimmune hepatitis, Iran, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Risk Factors, immune system diseases, Genotype, medicine, Humans, SNP, Genetic Predisposition to Disease, Allele, Child, Allele frequency, Genetic Association Studies, Genetics, Hepatology, business.industry, Homozygote, Haplotype, Gastroenterology, Autoantibody, Case-control study, medicine.disease, digestive system diseases, Hepatitis, Autoimmune, Phenotype, 030104 developmental biology, Haplotypes, Case-Control Studies, Immunology, Female, 030211 gastroenterology & hepatology, Interleukin-4, business
Abstract

Background: Autoimmune hepatitis (AIH) is a chronic long-lasting hepatocellular inflammation associated with circulating auto antibodies. In addition to the genetic component, several cytokines have been implicated to be involved in AIH. This study was performed to investigate potential associations of AIH with IL4 gene variants.Method: The studied alleles and genotypes included: IL4G/T allele polymorphisms at position -1098 and C/T allele polymorphisms at two positions (-33 and -590) on the IL4 gene, in addition to the A/G allele polymorphisms at position +1902 on the IL4RA gene.Result: The IL4 C allele and CC genotype at position -590 and TT genotype at position -33 had a significantly higher frequency in AIH patients.Conclusion: This study identified the IL4 C allele and CC genotype susceptibility gene in AIH, which will provide better insights into the mechanisms of AIH and potential therapeutic interventions.

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results