Publications by authors named "Mohammad Galehdari"
Congenital myasthenic syndrome (CMS) refers to a heterogeneous group of inherited disorders, characterized by defective transmissionat the neuromuscular junction (NMJ). Patients with CMS showed similar muscle weakness, while other clinical manifestations are mostly dependent on genetic factors. This disease,caused bydifferent DNA mutations, is genetically inherited.
View Article and Find Full Text PDFBackground: Homozygous loss-of-function mutations in TSEN54 (tRNA splicing endonuclease subunit 54; OMIM: 608755) cause different types of pontocerebellar hypoplasias (PCH) including PCH2, PCH4, and PCH5. The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two affected male infants in an Iranian family.
Methods: We subjected two affected individuals in a consanguineous Iranian family.
Article Synopsis
- Whole-exome sequencing (WES) was used to investigate the genetic cause of a skeletal disease characterized by short stature in a specific Iranian family.
- The study identified a rare novel nonsense variant in the CTSK gene, which was confirmed through Sanger sequencing and correlated with the patient's clinical condition of pycnodysostosis.
- This discovery suggests that the identified CTSK variant is likely pathogenic and adheres to genetic interpretation criteria set by the ACMG-AMP guidelines.
Evaluation of GKN1 and GKN2 gene expression as a biomarker of gastric cancer.
Gastroenterol Hepatol Bed Bench
January 2018
Aim: The aim of this study was to investigate the expression of GKN1 and GKN2 genes as probable biomarkers for gastric cancer.
Background: Gastric cancer is a multifactorial process characterized by the uncontrolled growth and dissemination of abnormal cells. Survival rates of gastric cancer tend to be poor, a plausible explanation is a combination of a late-stage diagnosis and limited access to treatment.