Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family
Aims Wolfram syndrome (WS) is a rare recessive neurodegenerative disorder characterized
by diabetes mellitus and optic atrophy. Mortality and morbidity rate of the disease is high in …
by diabetes mellitus and optic atrophy. Mortality and morbidity rate of the disease is high in …
An overview of diabetes research achievements during a quarter of a century in Diabetes Research Center
S Esmaeili, F Bandarian, F Razi, H Adibi, A Jalili… - Journal of Diabetes & …, 2021 - Springer
Abstract Background Endocrinology and Metabolism Research Institute (EMRI) is one of the
biggest research institutes in Iran that was established to develop research strategies for …
biggest research institutes in Iran that was established to develop research strategies for …
A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)
S Torkamandi, S Rezaei, R Mirfakhraie… - Journal of Clinical …, 2020 - Wiley Online Library
Background Wolfram's syndrome (WFS) is a hereditary (autosomal recessive)
neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes …
neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes …
Genetic research in Immunogenetics Group of Endocrinology and Metabolism Research Institute
S Asgarbeik, MM Amoli, A Vahidi… - Journal of Diabetes & …, 2021 - Springer
Due to the high prevalence of metabolic diseases and the role of genetic factors in their
susceptibility, the use of basic research in this field can be useful for screening, prevention …
susceptibility, the use of basic research in this field can be useful for screening, prevention …
Monogenic diabetes—diagnostic conundrums
Diabetes mellitus (DM) is a global pandemic [1] that affects nearly 382 million people
worldwide [2]. The vast majority of patients (approximately 85%) are classified into polygenic …
worldwide [2]. The vast majority of patients (approximately 85%) are classified into polygenic …