A5040605657- Muscle Physiology and Disorders
- Hereditary Neurological Disorders
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Inflammatory Myopathies and Dermatomyositis
- RNA modifications and cancer
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Pancreatic and Hepatic Oncology Research
- Connexins and lens biology
- Adipose Tissue and Metabolism
- RNA Interference and Gene Delivery
- Immune Cell Function and Interaction
- MicroRNA in disease regulation
- Pancreatitis Pathology and Treatment
- Gastrointestinal disorders and treatments
- Nuclear Structure and Function
- Neuroscience of respiration and sleep
- RNA Research and Splicing
- Skin and Cellular Biology Research
- Hearing, Cochlea, Tinnitus, Genetics
- Cleft Lip and Palate Research
- Oral and Craniofacial Lesions
- Immunodeficiency and Autoimmune Disorders
Siriraj Hospital
2003-2023
Mahidol University
2005-2023
Hearing loss is highly prevalent with a worldwide incidence of 1–2 per 1000 newborns. Several previous studies have demonstrated that mutations connexin 26 ( Cx26 or GJB2 ) are responsible for most cases the recessive non‐syndromic sensorineural hearing (NSSHL). Certain been described frequently among various populations, which include 35delG, 167delT, and 235delC. Recently, missense mutation, V37I, was reported as pathogenic change in East Asian affected individuals. To identify genetic...
Abstract Distal myopathy with rimmed vacuoles (DMRV) is an early‐adult‐onset, distal caused by a mutation of the UDP‐ N ‐acetylglucosamine 2 epimerase/ ‐acetylmannosamine kinase ( GNE ) gene. We herein report four Thai patients DMRV who carried compound heterozygous mutations gene including three novel (p.G89R, p.P511T, and p.I656N) two known (p.A524V p.V696M). All shared p.V696M in one allele. Our study demonstrates spectrum DMRV. Muscle Nerve, 2006
AIM:To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS:Polymerase chain reaction direct sequencing were performed to analyze the PRSS1 two affected by pancreatitis.Allele specific amplification (ASA) method was then developed detect all available normal control subjects. RESULTS:A cytosine (C) thymine (T) at position 2441 (g.2441C>T) gene, which results substitution arginine...
Background: Inherited peripheral neuropathy presents a diagnostic and therapeutic challenge due to its association with mutations in over 100 genes. This condition leads long-term disability poses substantial healthcare burden on society. Objective: study aimed investigate the distribution of genes establish genotype-phenotype correlations, focusing pediatric-onset cases. Methods: Exome sequencing other analytical techniques were employed identify pathogenic variants, including duplication...
Abstract A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; dysplastic ears. Limb short stature, postaxial polydactyly both hands the left foot, proximal distal symphalangism fingers, congenital absence phalanges toes 2–5. Mutation analyses NOG GDF5 , genes responsible for symphalangism‐related syndromes, were negative. © 2003 Wiley‐Liss, Inc.
Case series reports on clinical features of pediatric hereditary neuropathy in Thailand is scarce. Subtype and presentation childhood-onset CMT differ from adult-onset. The aim this study to investigate the phenotype Thai children. We retrospectively reviewed children diagnosed with who followed up Pediatric Neurology, Siriraj Hospital January 1999 June 2016. subtypes determined by neurophysiologic studies. Mutation analysis PMP22 genes was performed all demyelinating cases. disease burden...