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15 papers found.
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Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Ober,3 Soma Das,3 Radhika Dhamija,5 Eric W. Klee,1 and Pavel Pichurin1,2 1Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA 2Department of Clinical Genomics, Mayo Clinic, Rochester, MN

Electrochemical detection of l-serine and l-phenylalanine at bamboo charcoal–carbon nanosphere electrode

A carbon nanosphere electrode (CN) has been fabricated for the electrochemical detection of l-serine and l-phenylalanine. Electrochemical behavior of amino acids was investigated using cyclic voltammetry, differential pulse voltammetry, square wave voltammetry and linear sweep voltammetry. In optimal conditions, the peak current of both amino acids on the CN electrode was found...

Fabrication of a nonenzymatic cholesterol biosensor using carbon nanotubes from coconut oil

Mitali Saha 0 Soma Das 0 0 M. Saha S. Das (&) Department of Chemistry, National Institute of Technology , Agartala 799055, Tripura, India A nonenzymatic cholesterol biosensor was fabricated at the

Effect of reducing agents on the structure of zinc oxide under microwave irradiation

Monica Debbarma 0 Soma Das 0 Mitali Saha 0 0 M. Debbarma S. Das (&) M. Saha Department of Chemistry, National Institute of Technology , Agartala 799055, Tripura, India Zinc oxide was synthesized

Monoclonal Antibodies against Hepatitis C Genotype 3a Virus Like Particle Inhibit Virus Entry in Cell Culture System

Department of Biotechnology, Govt. of India. Dr. Soma Das was the recipient of S K Kothari postdoctoral Fellowship from UGC, Govt. of India. Anuj Kumar Dayal was a recipient of Junior Research Fellowship from ... . Conceived and designed the experiments: Soma Das AAK SMS Saumitra Das. Performed the experiments: Soma Das RKS AK RNS RT GC AM. Analyzed the data: Soma Das AK AAK Saumitra Das SMS. Contributed reagents

Neurotoxic Mechanisms of Electrophilic Type-2 Alkenes: Soft–Soft Interactions Described by Quantum Mechanical Parameters

Conjugated Type-2 alkenes, such as acrylamide (ACR), are soft electrophiles that produce neurotoxicity by forming adducts with soft nucleophilic sulfhydryl groups on proteins. Soft–soft interactions are governed by frontier molecular orbital characteristics and can be defined by quantum mechanical parameters such as softness (σ) and chemical potential (μ). The neurotoxic potency...

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Laura K. Conlin in:Nature Research journals • PubMed • Google ScholarSearch for Gregory M. Cooper in:Nature Research journals • PubMed • Google ScholarSearch for Soma Das in:Nature Research journals

Acrylamide Inhibits Dopamine Uptake in Rat Striatal Synaptic Vesicles

Evidence suggests that acrylamide (ACR) neurotoxicity is mediated by decreased presynaptic neurotransmitter release. Defective release might involve disruption of neurotransmitter storage, and therefore, we determined the effects of in vivo and in vitro ACR exposure on 3H-dopamine (DA) transport into rat striatal synaptic vesicles. Results showed that vesicular DA uptake was...

Structure-Toxicity Analysis of Type-2 Alkenes: In Vitro Neurotoxicity

Acrylamide (ACR) is a conjugated type-2 alkene that produces synaptic toxicity presumably by sulfhydryl adduction. The α,β-unsaturated carbonyl of ACR is a soft electrophile and, therefore, adduction of nucleophilic thiol groups could occur through a conjugate (Michael) addition reaction. To address the mechanism of thiol adduct formation and corresponding neurotoxicological...

Population-specific GSTM1 copy number variation

As one of the major glutathione conjugation enzymes, GSTM1 detoxifies a number of drugs and xenobiotics. Its expression and activity have been shown to correlate both with cancer risks and drug resistance. Through a genome-wide association study, we identified a significant association between HapMap SNP rs366631 and GSTM1 expression. In this study, utilizing lymphoblastoid cell...

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

Exome sequencing is a powerful tool for discovery of the Mendelian disease genes. Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family [Nolan, D.K., Chen, P., Das, S., Ober, C. and Waggoner, D. (2008) Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am. J. Med. Genet. A...

THGS: a web‐based database of Transmembrane Helices in Genome Sequences

Transmembrane Helices in Genome Sequences (THGS) is an interactive web‐based database, developed to search the transmembrane helices in the user‐interested gene sequences available in the Genome Database (GDB). The proposed database has provision to search sequence motifs in transmembrane and globular proteins. In addition, the motif can be searched in the other sequence...

A Repeated Element in the Regulatory Region of the MNK Gene and Its Deletion in A Patient With Occipital Horn Syndrome

Occipital horn syndrome (OHS), an X-linked connective tissue disorder, has recently been shown to result from mutations in the Menkes disease gene (MNK), which encodes a copper-transporting ATPase. By Southern analysis we detected a small deletion in a region 5′ to the MNK gene in one patient with OHS. Genomic clones from an unaffected individual were isolated and sequenced...

Global gene expression as a function of germline genetic variation

Common, functional, germline genetic polymorphisms have been associated with clinical cancer outcomes. Little attention has been paid to the potential phenotypic consequences of germline genetic variation on downstream genes. We determined the germline status of 16 well-characterized functional polymorphisms in 126 children with newly diagnosed acute lymphoblastic leukemia (ALL...

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

Carlos Cardoso Richard J. Leventer Naomichi Matsumoto 2 Julie A. Kuc Melissa B. Ramocki Stephanie K. Mewborn Laura L. Dudlicek Lorraine F. May Patti L. Mills Soma Das Daniela T. Pilz 1 William B