A5057912882- Genomic variations and chromosomal abnormalities
- Down syndrome and intellectual disability research
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Congenital heart defects research
- Signaling Pathways in Disease
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Colorectal Cancer Treatments and Studies
- Parkinson's Disease Mechanisms and Treatments
- Genetic factors in colorectal cancer
- Kawasaki Disease and Coronary Complications
- Mitochondrial Function and Pathology
- Acute Lymphoblastic Leukemia research
- Cleft Lip and Palate Research
- PARP inhibition in cancer therapy
- Prenatal Screening and Diagnostics
- NF-κB Signaling Pathways
- Clusterin in disease pathology
- Neonatal and Maternal Infections
- Cancer-related Molecular Pathways
- RNA modifications and cancer
- Congenital limb and hand anomalies
- Macrophage Migration Inhibitory Factor
- Calcium signaling and nucleotide metabolism
- Immunodeficiency and Autoimmune Disorders
Oasi Maria SS
1988-2016
Objective: Trisomy 21 is the most frequent genetic cause of intellectual disability. Tumor Protein 53 (TP53) gene down-regulation triggers chromosomal instability. A TP53 polymorphism c.215G > C (rs1042522) associated with accumulation aneuploid cells. We analyzed in Sicilian mothers subjects Down Syndrome (DS) within a case-control study.Methods: Nucleotide was detected by pyrosequencing technology.Results: The distribution showed significant difference between DS and controls.Conclusions:...
Expression of the fragile site fra(X) (q27.3) in peripheral lymphocytes was evaluated mentally retarded patients and normal control individuals before after administration antifolic agent trimethoprim for 7 days. This treatment effective converting status some from fra(X)-negative to fra(X)-positive. However, induced level expression very low not significantly different subjects did increase those where it already present treatment. These data support contention that fra(X)(q27.3) is a...
Abstract Down syndrome (DS) is characterised by intellectual disability and caused trisomy 21. Apoptosis a programmed cell death process involved in neurodegenerative diseases such as Alzheimer. People with DS can develop some traits of Alzheimer disease at an earlier age than subjects without The leucine zipper, down regulated cancer 1 (LDOC1) appears to be the apoptotic pathways. aim present work was detect presence intracellular synthesis LDOC1 protein mRNA fibroblast cultures from...