genetics
Atefeh Hassanzadeh; aliakbar jannatabadi; Abolfazl Rad
Volume 28, Issue 3 , May and June 2021, , Pages 373-378
Abstract
Introduction: Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or spastic tetraplegia. However, other symptoms such as cognitive deficits, delayed speech and seizures were frequently observed. ...
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Introduction: Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or spastic tetraplegia. However, other symptoms such as cognitive deficits, delayed speech and seizures were frequently observed. Because of these overlap symptoms, these syndromes are categorized as unknown and rare disease. High-through put technologies such as whole exome sequencing (WES) solved many of these unknown diseases. In this study, we used WES and introduced a family with SLS from Sabzevar – Khorasane Razavi- Iran. Materials and Methods: Using WES, we sequenced all exons and then analyzed the annotation file. We segregated variant in other family members to confirm the candidate gene using PCR and Sanger sequencing. Results: Our data showed that mutation in ALDH3A2 with c.943C>T pathogenic variant causes SLS syndrome in this family. Conclusion: The advent of WES improve the ability of diagnosis in a huge number of syndromes with overlap symptoms. Nonetheless, most of syndromes do not have a specific treatment and recognizing the cause of syndromes help to families to screen during pregnancies.
Maryam Najafi; Moeen Farshchian; Esmaeel Rostami; Gholamreza Karami Madani; Abolfazl Rad
Volume 22, Issue 6 , January and February 2016, , Pages 1099-1104
Abstract
Background and purposes: Esophageal Squamous cell carcinoma (ESCC) is ranked as the sixth cause of cancer-related death. However there are chemotherapy, radiotherapy and surgical as standard treatment, for this cancer the survival rate is lower. Therefore, clarification of molecular pathways are needed ...
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Background and purposes: Esophageal Squamous cell carcinoma (ESCC) is ranked as the sixth cause of cancer-related death. However there are chemotherapy, radiotherapy and surgical as standard treatment, for this cancer the survival rate is lower. Therefore, clarification of molecular pathways are needed for diagnosis, prevention and treatment. In this study we aimed to evaluate the ectopic expression of SOX2 and its correlation with Notch signaling pathways. Materials and Methods: Using lentiviral SOX2, we did transduction in KYSE 30 cells and over-expressed SOX2. Then, we confirmed the overexpression by Real time PCR. Also the correlation of SOX2 overexpression with Notch signaling factors was assessed by Real time PCR. Results: The over-expression of SOX2 in KYSE 30 give rise to up-regulation of Notch signaling factors. Conclusion: Our data showed, the overexpression of SOX2 causes overexpression of HEY1 and HEY2 which maintain stemness in ESCC. These concepts will require deeper studies to use as biomarker for ESCC.