Sima Kheradmand Kia
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View article: Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population Open
Advances in genetic testing have improved IRD diagnostics and counseling. To enhance these advances and contribute to an inclusive genetic landscape, this study examines genetic causes in 111 Iranian patients clinically diagnosed with non-…
View article: MicroRNAs in thyroid cancer with focus on medullary thyroid carcinoma: potential therapeutic targets and diagnostic/prognostic markers and web based tools
MicroRNAs in thyroid cancer with focus on medullary thyroid carcinoma: potential therapeutic targets and diagnostic/prognostic markers and web based tools Open
This review aimed to describe the inculpation of microRNAs (miRNAs) in thyroid cancer (TC) and its subtypes, mainly medullary thyroid carcinoma (MTC), and to outline web-based tools and databases for bioinformatics analysis of miRNAs in TC…
View article: Recent Developments in Cell Line Shipping Methods: Pivotal Gaps in Cellular Death Sciences
Recent Developments in Cell Line Shipping Methods: Pivotal Gaps in Cellular Death Sciences Open
Contrary to remarkable advances within the cell therapy industry, scientists expose dissatisfied challenges associated with the preservation and post-thaw cell death globally. Post cryopreservation apoptosis is normally observed in culture…
View article: GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease Open
Diamond–Blackfan anemia (DBA) is one of the inherited bone marrow failure syndromes marked by erythroid hypoplasia. Underlying variants in ribosomal protein (RP) genes account for 80% of cases, thereby classifying DBA as a ribosomopathy. I…
View article: The Cross‐Talk between Polyphenols and the Target Enzymes Related to Oxidative Stress‐Induced Thyroid Cancer
The Cross‐Talk between Polyphenols and the Target Enzymes Related to Oxidative Stress‐Induced Thyroid Cancer Open
The most serious hallmark step of carcinogenesis is oxidative stress, which induces cell DNA damage. Although in normal conditions ROS are important second messengers, in pathological conditions such as cancer, due to imbalanced redox enzy…
View article: Promoter Methylation of Tumor Suppressors in Thyroid Carci-noma: A Systematic Review
Promoter Methylation of Tumor Suppressors in Thyroid Carci-noma: A Systematic Review Open
Background: The tumor suppressor genes play a critical role in cellular and molecular mechanisms such as cell cycle processes, cell differentiation and apoptosis. Aberrant DNA methylation of tumor suppressor genes and subsequent gene expre…
View article: The impact of pre‐analytical variations on biochemical analytes stability: A systematic review
The impact of pre‐analytical variations on biochemical analytes stability: A systematic review Open
Objective A common problem in clinical laboratories is maintaining the stability of analytes during pre‐analytical processes. The aim of this study was to systematically summarize the results of a set of studies about the biochemical analy…
View article: Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development Open
[This corrects the article DOI: 10.1371/journal.pgen.1006809.].
View article: Human mutations in integrator complex subunits link transcriptome integrity to brain development
Human mutations in integrator complex subunits link transcriptome integrity to brain development Open
Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely …