A5046502018- Cystic Fibrosis Research Advances
- Craniofacial Disorders and Treatments
- Science, Research, and Medicine
- Health Systems, Economic Evaluations, Quality of Life
- Public Health and Nutrition
- RNA Research and Splicing
- Global Public Health Policies and Epidemiology
- Tracheal and airway disorders
- Nutrition, Genetics, and Disease
- Molecular Biology Techniques and Applications
- Nigella sativa pharmacological applications
- Connective tissue disorders research
- Cancer Diagnosis and Treatment
- Metabolism, Diabetes, and Cancer
- Diagnosis and treatment of tuberculosis
- Hypertrophic osteoarthropathy and related conditions
- Tuberculosis Research and Epidemiology
- Mycobacterium research and diagnosis
- Neonatal Respiratory Health Research
- Drug-Induced Hepatotoxicity and Protection
- Natural Antidiabetic Agents Studies
- Cleft Lip and Palate Research
- Cancer-related molecular mechanisms research
- Genetic Associations and Epidemiology
Ramathibodi Hospital
2025
Mahidol University
2025
Universitas Swadaya Gunung Jati
2014-2025
Bangkok University
2019
Conference Board
2019
Formalin-fixed paraffin-embedded tissue (FFPET), which is the most widely used pathology archive, usually has low-quality DNA and RNA due to extensive nucleic acid crosslinking. fluorescence in situ hybridization (RNA-FISH) been increasingly utilized research clinical settings diagnose disease pathology. In this study, effect of degradation over archival time on RNA-FISH signals FFPET fresh frozen (FFT) was systematically assessed. RNAscope multiplex fluorescent assay with four...
Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. syndrome associated other systemic malformations, including intellectual disability. At least seven mutations fibroblast growth factor receptor 2 (FGFR2) gene have been found to cause syndrome. Most cases of are caused one the two most frequent located exon 7...
Background: Hypertension is the leading cause of death globally due to its complications, including coronary heart disease and stroke. In 2018, hypertension cases in West Java were second highest among all populations Indonesia. Genetics one unmodifiable risk factors for hypertension. Angiotensin-converting enzyme insertion/deletion (ACE I/D) gene polymorphism could affect ACE production renin-angiotensin-aldosterone system (RAAS), which linked regulation blood pressure. Aims: To analyze I/D...
Background: Tuberculosis (TB) is one of the leading causes death globally, caused by Mycobacterium tuberculosis. With 10% all cases worldwide in 2022, Indonesia second-largest contributor tuberculosis cases. IFN-γ gene polymorphism factors that have been studied extensively for its association with TB. Aims: To analyze +874T/A as a risk factor pulmonary Cirebon. Methods: Observational analysis case control design was used this study. Thirty-two patients and 32 healthy controls at RSUD Waled...
Background: Apert syndrome is characterized by structural abnormalities of skull, face, eyes, hands and feet. This autosomal dominant disorder caused mutations in FGFR2, a gene encoding for fibroblast growth factor receptor protein. Despite its rare frequency general population, several cases have been identified Indonesia.
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Background Cystic fibrosis (CF) is an autosomal recessive disorder due to mutation(s) in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. In Caucasian population, CF routinely screened newborns and also couple with family history high incidence prevalence. The V322A missense mutation was detected from a man whose expecting spouse carrier for F508del. F508del known as most common severe CF-causing mutation, while effect of still unknown. If deleterious, F508del/V322A baby...
Cystic fibrosis is caused by mutations on the Fibrosis Transmembrane conductance Regulator gene (CFTR). Exonic may have variable effect CFTR protein and alter normal localization of apical membrane epithelial cells or/and its function as a chloride channel. Identifying missense mutation can be first step in helping medical counseling therapeutic strategies. In this study, c.965T>C exon 8 that induces valine-to-alanine substitution (p.Val322Ala) into fifth helix spanning domain was determined...