Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.

Background: Biotinidase (BTD, encoded by the BTD gene) deficiency is an autosomal recessive neurometabolic disease caused by abnormal BTD activity in the biotin cycle. The clinical symptoms of patients, which are mainly neurocutaneous, range from mild to severe based on the enzyme activity level. This study aimed to identify BTD gene mutations in suspected BTD deficiency patients for the first time in the southwest of Iran and evaluate their genotype-phenotype correlations.

Study of the genomics and transcriptomics profiles of male-infertility genes in human prostate cancer: an analysis.

The World Health Organization has considered the infertility as an international public health problem. Infertility affect nearly 1 in 7 couples and male component contributes to 50% of infertility cases. There is a clear link between male infertility and some cancers such as testicular germ cell, prostate and colon cancers.

Folate gene polymorphisms 844ins68 and A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study.

Background: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a variety of populations. Reduced folate carrier 1 () and cystathionine beta-synthase () are key enzymes in folate metabolism.

Evaluating the Gray Level Co-Occurrence Matrix-Based Texture Features of Magnetic Resonance Images for Glioblastoma Multiform Patients' Treatment Response Assessment.

Background: Medical images of cancer patients are usually evaluated qualitatively by clinical specialists which makes the accuracy of the diagnosis subjective and related to the skills of clinicians. Quantitative methods based on the textural feature analysis may be useful to facilitate such evaluations. This study aimed to analyze the gray level co-occurrence matrix (GLCM)-based texture features extracted from T1-axial magnetic resonance (MR) images of glioblastoma multiform (GBM) patients to determine the distinctive features specific to treatment response or disease progression.

gene polymorphism is associated with downregulation of expression, suppressor of cytokine signaling-1 overexpression, and low probability of metastatic tumor at the time of breast cancer diagnosis.

Background: is a key player in inflammatory reactions, carcinogenesis, and tumor development. In this study, polymorphism of and its gene and suppressor of cytokine signaling-1 (SOCS-1) expression were investigated in relation to cancer susceptibility and development in breast cancer (BC) patients.

Materials And Methods: Polymorphism of was evaluated between a population of 174 patients with BC and 129 controls using restriction fragment length polymorphism and the expression of and SOCS-1 were examined in peripheral blood mononuclear cells (PBMCs) by real-time polymerase chain reaction.