Publications by authors named "Tazzite Amal"
Article Synopsis
- - The gene associated with alpha-thalassemia mental retardation X-linked is a chromatin remodeler linked to severe conditions like intellectual disability and facial anomalies, among others.
- - A report highlights a 7-year-old Moroccan boy with significant intellectual challenges, autistic traits, specific facial features, and other physical issues, linked to a newly discovered variant in this gene.
- - The identified variant (c.745G>A) shows strong predictions of being harmful and impacts a highly conserved protein domain, indicating further research is necessary to confirm its significance for proper genetic counseling.
Article Synopsis
- * An 8-year-old Moroccan boy with intermediate epilepsy and intellectual disability underwent genetic testing, revealing heterozygous variants in two genes, including one of uncertain significance that was also found in his healthy mother.
- * More research is necessary to understand the effects of this novel variant to improve care and genetic counseling for children with similar health issues.
Article Synopsis
- The study focuses on assessing minimal residual disease (MRD) in acute myeloid leukemia (AML) patients and analyzing the FLT3/ITD gene in those with normal karyotypes after achieving complete remission (CR).
- Out of 30 adult patients, a large percentage had an intermediate risk status, where MRD and leukemic stem cell (LSC) positivity were prevalent, indicating a higher chance of relapse.
- The findings suggest that MRD and LSC are crucial indicators for predicting relapse in AML patients and should be used regularly to improve treatment strategies.
Article Synopsis
- - Rett syndrome (RTT) is a rare neurodevelopmental disorder that mainly affects girls, leading to regression in skills and features similar to autism, with a wide range of symptoms.
- - A case study of a Moroccan girl revealed a specific mutation (R306X) in the MECP2 gene, causing atypical symptoms like autistic regression, behavioral stagnation, and seizures.
- - The text suggests the importance of thorough genetic analysis in atypical RTT cases to ensure correct diagnosis and better management, noting potential overlaps with Angelman syndrome.
Prostate cancer is the most common male cancer in Morocco. Although sporadic forms account for a large proportion of patients, familial forms of prostate cancer are observed in 20% of cases and about 5% are due to hereditary transmission. Indeed, germline mutations in BRCA1/2 genes have been associated with prostate cancer risk.
View Article and Find Full Text PDFTriple-negative breast cancer (TNBC) can be distinguished from other breast malignancies by the lack of expression of estrogen receptors (ER), progesterone receptors (PR) as well as human epidermal growth factor receptor 2 (HER2). TNBC is associated with adverse clinical outcomes and high risk of metastasis. Currently, several clinical and translational reports are focusing on developing targeted therapies for this aggressive cancer.
View Article and Find Full Text PDFBackground: Breast cancer is the most common cause of cancer death among women. Several studies have investigated the relationship between the C3435T polymorphism of ABCB1 gene and risk of breast cancer; but the results are conflicting. In the present study, we sought to assess the relationship between the C3435T polymorphism in ABCB1 gene and the risk of breast cancer in a sample of the Moroccan population.
View Article and Find Full Text PDFBackground: BRCA1 and BRCA2 genes explain a large part of hereditary breast cancer. Several studies have shown that BRCA1 and BRCA2 tumors exhibit some specific morphological and immunohistochemical characteristics. The aim of our study is to compare the clinicopathological characteristics between Moroccan breast cancers associated or not with BRCA1 and BRCA2 mutations.
View Article and Find Full Text PDFPurpose: The cell-cycle checkpoint kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects has been associated with increased risk for breast cancer. The CHEK2 1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations.
View Article and Find Full Text PDFTP53 is a tumor suppressor gene involved in cell cycle progression control, DNA damage repair, genomic stability, and apoptosis. Some polymorphisms in this gene have been associated with the development of a number of cancers including breast carcinoma. PIN3 Ins16bp polymorphism has been widely studied in different populations for an association with breast cancer risk.
View Article and Find Full Text PDFBackground: Breast cancer is the most common cancer affecting women all over the world. In addition to hormonal and environmental causes, family history is emerging as an important risk factor in the etiology of this disease. The aim of the present study is thus to compare the clinico-pathological features of familial and sporadic breast cancer in Moroccan patients.
View Article and Find Full Text PDFObjective: Breast cancer is the most common female cancer in Morocco. About 5 to 10% are due to hereditary predisposition and mutations in BRCA1 and BRCA2 genes are responsible for an important proportion of high-risk breast/ovarian cancer families. The relevance of BRCA1/2 mutations in the Moroccan population was not studied.
View Article and Find Full Text PDFLarge-scale meta-analysis of genetic studies in ischemic stroke: Five genes involving 152,797 individuals.
Indian J Hum Genet
September 2011
Background: Ischemic stroke descent has a genetic basis. Stroke represents a complex trait, which is assumed to be polygenic. On this topic, the role of a wide number of candidate genes has been investigated in stroke through association studies.
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