-
Article
Open AccessClinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia
Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we applied the whole exome sequencing (WES) t...
-
Article
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
Intellectual disability (ID) is a highly heterogeneous disorder, affecting 1–3% of the world’s population, which is associated with a significant disorder in cognitive development, adaptive functioning and beh...
-
Article
Open AccessThe microbiota-gut-kidney axis mediates host osmoregulation in a small desert mammal
Regulating sodium and water balances is crucial for survival of small, desert mammals. Studies demonstrate that the gut microbiota and their metabolites are involved in host energy homeostasis, but little is k...
-
Article
The physiological and molecular mechanisms to maintain water and salt homeostasis in response to high salt intake in Mongolian gerbils (Meriones unguiculatus)
Desert rodents are faced with many challenges such as high dietary salt in their natural habitats and they have evolved abilities to conserve water and tolerate salt. However, the physiological and molecular m...
-
Article
Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease, for which more than 70 genes have been identified. MYO15A mutations have been reported to cause congenital severe-to-prof...
-
Article
Open AccessA novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) cons...
-
Article
The response of English yew (Taxus baccata L.) to climate change in the Caspian Hyrcanian Mixed Forest ecoregion
The Hyrcanian climate in the northern parts of Iran has warmed over the past 50 years, but the impacts on plant species are unknown. As the longest-lived tree in the Hyrcanian forest, English yew, Taxus baccata L...
-
Article
Potential efficacy of Lactobacillus casei IBRC_M10711 on expression and activity of insulin degrading enzyme but not insulin degradation
Type 2 diabetes (T2D) is a condition with insufficient insulin production or in the setting of insulin resistance with many origins including intestinal microbiota-related molecular mechanism. Insulin-degradin...
-
Article
Esophageal Carcinoma in African Americans: A Five-Decade Experience
Esophageal cancer accounts for a considerable proportion of carcinomas of the upper gastrointestinal tract in African Americans. Our aim was to describe the epidemiology of esophageal squamous cell cancer (ESC...
