A5049706240- Attention Deficit Hyperactivity Disorder
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Bipolar Disorder and Treatment
- Neurotransmitter Receptor Influence on Behavior
- Genomic variations and chromosomal abnormalities
- Tryptophan and brain disorders
- Folate and B Vitamins Research
- RNA modifications and cancer
- Functional Brain Connectivity Studies
- Down syndrome and intellectual disability research
- Neural and Behavioral Psychology Studies
- Neuroscience and Neuropharmacology Research
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Treatment of Major Depression
- Child Nutrition and Feeding Issues
- Birth, Development, and Health
- Thyroid Disorders and Treatments
- Neurogenesis and neuroplasticity mechanisms
- Esophageal and GI Pathology
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Cognitive Abilities and Testing
All India Institute of Medical Sciences Raipur
2025
All India Institute of Medical Sciences
2025
All India Institute of Medical Sciences Bhopal
2025
Manovikas Kendra Rehabilitation and Research Institute
2014-2024
Mahidol University
2020
Post Graduate Institute of Medical Education and Research
2008
Indian Institute of Technology Hyderabad
2008
Indian Institute of Information Technology Guwahati
2008
The University of Texas Southwestern Medical Center
2008
Southwestern Medical Center
2008
Pathophysiology of attention-deficit hyperactivity disorder (ADHD) is not known, and therefore the present study investigated mitochondrial defects, if any in cybrids created from patients control population. To investigate pathology ADHD, cell lines were ADHD probands controls by fusing their platelets with ρ0-cells prepared SH-SY5Y neuroblastoma line. Cellular respiration, oxidative stress, membrane potential morphology evaluated employing oxygraph, mitochondria-specific fluorescence...
Abstract Attention deficit hyperactivity disorder (ADHD) is a highly disabling, early onset childhood neurobehavioral with higher occurrence in boys as compared to girls. Pharmacological and molecular genetic studies have revealed the influence of dopaminergic serotonergic systems etiology disorder. Monoamine oxidase A (MAOA) mitochondrial enzyme that regulates signals pre‐synaptic region. Polymorphism promoter region MAOA gene, which comprises 30 bp repeats repeat number varying between...
Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) congenital heart diseases (CHD) are frequently observed. Collagen molecules essential components maintaining muscle integrity formed by assembly of three chains, alpha 1-3. The type VI collagen crucial cardiac as well skeletal muscles. COL 1 (VI) 2 chains encoded genes located at 21st chromosome expected to have...
Serotonin transporter (SLC6A4) polymorphisms are variously implicated in mediating susceptibility to attention-deficit-hyperactivity disorder (ADHD), a highly heritable and heterogeneous with onset childhood. Since there has been no survey this regard from India, sample of 56 ADHD cases 174 healthy individuals Kolkata were genotyped for the SLC6A4 promoter (5-HTTLPR) intron-2 (STin2) polymorphisms. We report that observed distribution allele frequencies is consonant expected as per...
Engrailed 2 (EN2) is a homeobox transcription factor involved in the patterning of cerebellum during brain development. Linkage analysis and studies on knockout mice support EN2, located chromosome 7q36.3, as potential risk locus for autism. Candidate gene approach also suggested association EN2 with autism spectrum disorder (ASD) various populations. Here, we have investigated five markers [rs3735653 (C/T) exon 1; rs34808376 (GC/-) rs6150410 (CGCATCCCC/-) promoter region; rs1861972 (A/G)...
The severity of autism spectrum disorder (ASD) shows wide variations, though the reason remains unclear. Vitamin D (VitD) deficiency is considered a risk factor for ASD and its supplementation was reported to reduce symptom severity. Since VitD, either synthesized in skin or absorbed from food, transported liver by vitamin binding protein (DBP), we have analyzed DBP genetic polymorphisms [rs7041 (A/C), rs4588 (G/T), rs3755967 (C/T)] affecting function [Case = 411; Control 397], levels plasma...
Cystathionine beta-synthase (CBS) mediates conversion of homocysteine to cystathionine and deficiency in enzyme activity may lead hyperhomocysteinemia/homocystinuria, which are often associated with mental retardation (MR). A large number polymorphisms have been reported the CBS gene, some impair its among these, a T833C polymorphism cis 68 bp insertion at 844 exon 8 is found be mild hyperhomocysteinemia different ethnic groups.The present study aimed investigating association between...
Abstract Attention deficit hyperactivity disorder (ADHD) is a childhood onset neurobehavioral disorder. Several studies worldwide have implicated possible association between ADHD and transmission of different polymorphisms the dopamine D4 receptor gene ( DRD4 ) in ethnic groups. However, this first report on Indian subjects. Association 5′ flanking 120‐bp duplication, exon 1 12‐bp 3 48‐bp variable numbers tandem repeats (VNTR) were analyzed 50 cases. Haplotype‐based haplotype relative risk...
Abstract Autism is a neurodevelopmental disorder with high heritability factor and the reelin gene, which codes for an extracellular matrix protein involved neuronal migration lamination being investigated as positional functional candidate gene autism. It located on chromosome 7q22 within autism susceptible locus (AUTS1); identified in earlier genome scans several investigations have been carried out various ethnic groups to assess possible association linkage of However, findings are still...
Platelet hyperserotonemia in a subset of Autism Spectrum Disorder (ASD) probands, efficacy selective serotonin reuptake inhibitors (SSRIs) reducing behavioral deficits and gender-bias normal (5-hydroxy tryptamine or 5-HT) synthesis suggest disruption stringent regulation metabolism ASD. Therefore, we investigated the changes 5-HT 5-hydroxy indole acetic acid (5-HIAA) ASD probands to assess its effect on behavior male female probands. cases (n = 215) were examined using childhood autism...