A5007640541- Enzyme Structure and Function
- Genomics and Rare Diseases
- Protein Structure and Dynamics
- Genomic variations and chromosomal abnormalities
- Glycosylation and Glycoproteins Research
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Galectins and Cancer Biology
- Congenital Heart Disease Studies
- Advanced Proteomics Techniques and Applications
- RNA and protein synthesis mechanisms
- Antimicrobial Peptides and Activities
- Microbial Metabolic Engineering and Bioproduction
- Eosinophilic Disorders and Syndromes
- Invertebrate Immune Response Mechanisms
- Enzyme Production and Characterization
- Polyamine Metabolism and Applications
- Spinal Fractures and Fixation Techniques
- Mesenchymal stem cell research
- Epigenetics and DNA Methylation
- Anomaly Detection Techniques and Applications
- Eosinophilic Esophagitis
- Insect Utilization and Effects
- semigroups and automata theory
- Bioinformatics and Genomic Networks
Sathyabama Institute of Science and Technology
2022-2023
Stanford University
2021-2022
Christian Medical College & Hospital
2019-2020
Christian Medical College
2019-2020
Wellcome Sanger Institute
2012-2019
European Bioinformatics Institute
2004-2018
University of Akron
2016
Addenbrooke's Hospital
2013
University of Cambridge
2013
Wellcome Trust
2004-2010
Human genome sequencing has transformed our understanding of genomic variation and its relevance to health disease, is now starting enter clinical practice for the diagnosis rare diseases. The question whether how some categories findings should be shared with individual research participants currently a topic international debate, development robust analytical workflows identify communicate clinically relevant variants paramount.
There are few better examples of the need for data sharing than in rare disease community, where patients, physicians, and researchers must search "the needle a haystack" to uncover rare, novel causes within genome. Impeding pace discovery has been existence many small siloed datasets individual research or clinical laboratory databases and/or disease-specific organizations, hoping serendipitous occasions when two distant investigators happen learn they have phenotype common can "match"...
The Protein Data Bank in Europe (PDBe) (http://www.ebi.ac.uk/pdbe/) is actively working with its Worldwide partners to enhance the quality and consistency of international archive bio-macromolecular structure data, (PDB). PDBe also works closely collaborators at European Bioinformatics Institute scientific community around world databases services by adding curated maintained derived data existing structural PDB. We have developed a new database infrastructure based on remediated PDB...
The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation pathogenic in patients rare disorders. Contributing to international consortium >200 academic clinical centres medicine ≥1600 geneticists diagnostic laboratory scientists. Information integrated from a variety bioinformatics resources, coupled visualization tools, provides comprehensive set tools...
Congenital heart defects (CHDs) are the most common birth defect worldwide and a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal (AVSDs) an important subtype CHDs for which genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios 112 unrelated individuals with nonsyndromic AVSDs identified five rare missense variants (two arose de novo) highly conserved gene NR2F2, very significant enrichment (p = 7.7 × 10−7) compared to...
The Worldwide Protein Data Bank (wwPDB; wwpdb.org) is the international collaboration that manages deposition, processing and distribution of PDB archive. online archive at ftp://ftp.wwpdb.org repository for coordinates related information more than 47 000 structures, including proteins, nucleic acids large macromolecular complexes have been determined using X-ray crystallography, NMR electron microscopy techniques. members wwPDB–RCSB (USA), MSD-EBI (Europe), PDBj (Japan) BMRB (USA)–have...
Charcot-Leyden crystal (CLC) protein, initially reported to possess weak lysophospholipase activity, is still considered be the eosinophil's lysophospholipase, but it shows no sequence similarities any known lysophospholipases. In contrast, CLC protein has moderate similarity, conserved genomic organization, and near structural identity members of galectin superfamily, been designated galectin-10. To definitively determine whether or not a we reassessed its enzymatic activity in peripheral...
Bovine α-1,3-galactosyltransferase (α3GT) catalyzes the synthesis of α-galactose (α-Gal) epitope, target natural human antibodies. It represents a family enzymes, including histo blood group A and B transferases, that catalyze retaining glycosyltransfer reactions unknown mechanism. An initial study α3GT in crystal form with limited resolution considerable disorder suggested possible formation β-galactosyl-enzyme covalent intermediate (Gastinel, L. N., Bignon, C., Misra, A. K., Hindsgaul, O.,...
The role(s) of the eosinophil Charcot-Leyden crystal (CLC) protein in or basophil function associated inflammatory processes is yet to be established. Although CLC has been reported exhibit weak lysophospholipase activity, it shows virtually no sequence homology any known member this family enzymes. X-ray structure very similar galectins, members a β-galactoside-specific animal lectin family, including partially conserved galectin carbohydrate recognition domain (CRD). In absence natural...
The angiogenic molecule placenta growth factor (PlGF) is a member of the cysteine-knot family factors. In this study, mature isoform human PlGF protein, PlGF-1, was crystallized as homodimer in crystallographic asymmetric unit, and its crystal structure elucidated at 2.0 Å resolution. overall PlGF-1 similar to that vascular endothelial (VEGF) with which it shares 42% amino acid sequence identity. Based on structural biochemical data, we have mapped several important residues are involved...
Light-activated antisense oligodeoxynucleotides (asODNs) were developed to control the degradation of target mRNA in living cells by RNase H. A 20-mer asODN previously shown c-myb , a hematopoietic transcription factor, was covalently attached via photocleavable linker (PL) partially complementary sense strands (sODNs). In 'caged' state, sODN blocked hybridization mRNA. Six asODN-PL-sODN conjugates, C1-C6 synthesized. C5, with twelve bases, gave largest decrease melting temperature ( T m )...
The Protein Data Bank in Europe (PDBe; pdbe.org) is a partner the Worldwide PDB organization (wwPDB; wwpdb.org) and as such actively involved managing single global archive of biomacromolecular structure data, PDB. In addition, PDBe develops tools, services resources to make structure-related data more accessible biomedical community. Here we describe recently developed, extended or improved services, including an animated structure-presentation widget (PDBportfolio), graphically display...
The Protein Data Bank in Europe (PDBe; pdbe.org) is actively involved managing the international archive of biomacromolecular structure data as one partners Worldwide (wwPDB; wwpdb.org). PDBe also develops new tools to make structural more widely and easily available biomedical community. has developed a browser access analyze using classification systems that are familiar chemists biologists. web pages describe individual PDB entries have been enhanced through introduction plain-English...
The Protein Data Bank (PDB) is the single global repository for experimentally determined 3D structures of biological macromolecules and their complexes with ligands. worldwide PDB (wwPDB) international collaboration that manages archive according to FAIR principles: Findability, Accessibility, Interoperability Reusability. wwPDB recently developed OneDep, a unified tool deposition, validation biocuration macromolecules. All data deposited undergo critical review by Biocurators. This article...
UDP-galactose:β-galactosyl α-1,3-galactosyltransferase (α3GT) catalyzes the transfer of galactose from UDP-α-d-galactose into an α-1,3 linkage with β-galactosyl groups in glycoconjugates. The enzyme is expressed many mammalian species but absent humans, apes, and old world monkeys as a result mutational inactivation gene; large fraction natural antibodies are directed against its product, α-galactose epitope. α3GT member family metal-dependent retaining glycosyltransferases including...
DECIPHER (https://decipher.sanger.ac.uk) is a web-based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants from well-phenotyped patients suffering genetic disorders. aids clinical interpretation these rare sequence copy-number by providing tools variant analysis identification other exhibiting similar genotype–phenotype characteristics. also provides mechanisms to encourage collaboration among global community centers researchers, as well exchange...
Mesenchymal stem cells (MSCs) are gaining increasing prominence as an effective regenerative cellular therapy. However, ensuring consistent and reliable effects across clinical populations has proved to be challenging. In part, this can attributed heterogeneity in the intrinsic molecular signature of MSCs, which is dependent on their source origin. The present work uses integrated omics-based profiling, at different functional levels, compare anti-inflammatory, immunomodulatory, angiogenic...
The retaining glycosyltransferase, α-1,3-galactosyltransferase (α3GT), is mutationally inactivated in humans, leading to the presence of circulating antibodies against its product, α-Gal epitope. α3GT catalyzes galactose transfer from UDP-Gal β-linked galactosides, such as lactose, and absence an acceptor substrate, water at a lower rate. We have used site-directed mutagenesis investigate roles catalysis specificity residues that form H-bonds well other interactions with substrates. Mutation...