A5052500464- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Advanced biosensing and bioanalysis techniques
- Congenital heart defects research
- Child Nutrition and Feeding Issues
- Drug-Induced Adverse Reactions
- Autoimmune Bullous Skin Diseases
- Parkinson's Disease Mechanisms and Treatments
- Contact Dermatitis and Allergies
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Prenatal Screening and Diagnostics
- Genomics and Chromatin Dynamics
Prince of Songkla University
2011-2024
Genetic screening for HLA-B*15:02 before prescribing carbamazepine is standard practice to prevent severe cutaneous adverse reactions in Asian populations. These are associated not only with this allele but also closely related HLA-B75 serotype markers-HLA-B*15:11 and HLA-B*15:21-which prevalent several countries. However, a reliable method identifying markers still available. We developed an in-house quantitative PCR (qPCR) validated it using 303 anonymized DNA samples. Due inadequate...
Aim: Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin (α-NRXN1) and beta-neurexin (β-NRXN1) genes. This study is to explore possibility that variants of NRXN1 gene predispose intellectual disability (ID) autism spectrum disorder (ASD). Methods: The regions in 24 exons exon–intron boundaries were investigated 115 Thai patients with ID ASD by direct DNA sequencing. Results: Nine novel identified. Four found β-NRXN1 gene, one variant six GGC...
Mikhailov, Anna; Fennell, Alanna; Plong-on, Oradawan; Sripo, Thanya; Hansakunachai, Tippawan; Roongpraiwan, Rawiwan; Sombuntham, Tasnawat; Ruangdaraganon, Nichara; Vincent, John B.; Limprasert, Pornprot Author Information
Fragile X syndrome (FXS) is mainly caused by FMR1 CGG repeat expansions. Other types of mutations, particularly deletions, are also responsible for FXS phenotypes, however these mutations often missed routine clinical testing.
Abstract Autism spectrum disorder (ASD) is a form of pervasive developmental manifested by impairment in social interactions and repetitive behaviors. Although genetic contribution strongly suspected autism, the specific factors remain unidentified. Hyperserotoninemia has been reported some autistic patients, several studies have demonstrated an association between 5-hydroxytryptamine-transporter-linked promoter region (5-HTTLPR) polymorphisms rs25531 single nucleotide polymorphism serotonin...
Background: Chromosomal rearrangements involving telomeres account for approximately 1%–30% of causes mental retardation (MR). It is therefore recommended that all cases undiagnosed MR be screened subtelomeric aberration. Nevertheless, resolution a standard karyotyping using the G-banding technique limited. Therefore, an additional with higher should performed to detect this type anomaly. Objectives: To screen aberration in Thai patients and autism. Methods: Multiplex ligation-dependent...