A5054518866- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Attention Deficit Hyperactivity Disorder
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Fetal and Pediatric Neurological Disorders
- Genetic Neurodegenerative Diseases
- Prenatal Screening and Diagnostics
- Neurotransmitter Receptor Influence on Behavior
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Folate and B Vitamins Research
- Genetic and Kidney Cyst Diseases
- Congenital heart defects research
- Cell Adhesion Molecules Research
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Connective tissue disorders research
- RNA regulation and disease
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Pancreatic function and diabetes
- Neurogenetic and Muscular Disorders Research
Centre for Cellular and Molecular Biology
2020-2025
Institut thématique Génétique, génomique et bioinformatique
2025
Centre for DNA Fingerprinting and Diagnostics
2013-2021
John Wiley & Sons (United Kingdom)
2020
Hudson Institute
2020
Manipal Academy of Higher Education
2017
Manovikas Kendra Rehabilitation and Research Institute
2006-2013
Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family members can provide reliable source of common variants population. Exome sequencing (ES) from families Mendelian was aggregated five centers India. The dataset refined by excluding related individuals removing disease-causing (refined cohort). efficiency these sets assessed new 50 exomes...
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...
We report on a sib pair of Indian origin presenting with intellectual disability, dysmorphism, and macrocephaly. Exome sequencing revealed homozygous splice site HERC1 mutation in both probands. Functional analysis use an alternate resulting formation downstream stop codon nonsense mediated decay. In the light recent reports mutations two families similar phenotypic presentation, this reiterates pathogenic nature clinical consequences disruption. © 2016 Wiley Periodicals, Inc.
Abstract Objective To ascertain the performance of exome sequencing (ES) technology for determining etiological basis abnormal perinatal phenotypes and to study impact comprehensive phenotyping on variant prioritization. Methods A carefully selected cohort 32/204 fetuses with following postmortem/postnatal deep underwent ES identify a causative fetal phenotype. retrospective comparative analysis prenatal versus phenotype–based prioritization was performed aid Phenolyzer software. review...
J Oral Pathol Med (2012) 41 : 292–302 Background: Arecanut and smokeless tobacco usage is a major cause for oral submucous fibrosis (OSF) its subsequent development to squamous cell carcinoma in South‐east Asian population. Polymorphisms at N ‐acetyltransferase 2 locus, coding an enzyme catalyzing acetylation of aromatic amines, might DNA adduct formation because improper these polyaromatic hydrocarbons. repair enzymes remove prevent malignancy. Methods: In this hospital‐based study, 100...
Objective: ADHD is frequently detected in boys though there no established cause. One possibility that genes predisposing to have sexually dimorphic effects. With an aim find out the reason for this male biasness, contribution of 14 functional polymorphisms was investigated subjects. Method: Genomic DNA probands, their parents, and ethnically matched controls subjected analysis single-nucleotide variable number tandem repeats (VNTRs). Results: Case–control revealed significant higher...
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills perform activities of daily living as compared peers. Numerous genetic environmental factors may be responsible for ID. We report on elucidation molecular basis syndromic ID associated with ptosis, polydactyly, MRI features suggestive Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads...
PDE10A encodes a dual cAMP‐cGMP phosphodiesterase that is enriched in the medium spiny neurons of corpus striatum brain and plays an important role basal ganglia circuitry. Three unrelated patients with childhood onset chorea striatal abnormalities on MRI heterozygous de novo variants have been described previously. Two families eight affected individuals biallelic mutations also We report family multiple chorea, abnormalities, novel mutation, c.1001T>G(p.F334C) which was identified by...
Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier us in a consanguineous family. We report on identification of mutations BHLHA9 gene this condition. Our results indicate that and Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) are likely to be allelic disorders. © 2016 Wiley Periodicals, Inc.
We report a family of Indian origin presenting with Tarsal‐carpal coalition syndrome (TCC), which is rare genetic disorder skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected slight intrafamilial individual variability the phenotype. Sanger sequencing revealed novel heterozygous missense mutation NOG gene (NM_005450.4:c.611G>A) all family. Until now only six mutations have been...
A 48bp variable number of tandem repeat (VNTR), in the dopamine receptor D4 (DRD4), has been extensively studied association with a variety traits and neuropsychiatric disorders different ethnic groups; VNTR found to affect binding.This investigation, for first time, compared distribution DRD4 Indian populations from eastern part country, belonging Indo-Caucasoid Indo-Mongoloid ethnicity.852 individuals were recruited divided into six population Brahmin, Kayastha, Scheduled Caste, Mahishya,...