- Book Chapter
1
- 10.1016/b978-0-323-95502-7.00210-4
A Roadmap for Bioinformatic Resources
- Jan 01, 2025
- Kanika Mathuria + 1 more +1
Publications from 2021 to 2026
Showing 10 of 36 papers
A Roadmap for Bioinformatic Resources
Identification of the Novel HLA-DPB1*03:01:27 Allele by Next-Generation Sequencing.
The novel HLA-DPB1*03:01:27 allele differs from HLA-DPB1*03:01:01 by one nucleotide substitution in codon 199 exon 4.
W48. PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA
A Global Perspective on Safety and Efficacy Testing of Hair Care Products
hSSB1 (NABP2/OBFC2B) modulates the DNA damage and androgen-induced transcriptional response in prostate cancer.
Activation and regulation of androgen receptor (AR) signaling and the DNA damage response impact the prostate cancer (PCa) treatment modalities of androgen deprivation therapy (ADT) and radiotherapy. Here, we have evaluated a role for human single-strand binding protein 1 (hSSB1/NABP2) in modulation of the cellular response to androgens and ionizing radiation (IR). hSSB1 has defined roles in transcription and maintenance of genome stability, yet little is known about this protein in PCa. We correlated hSSB1 with measures of genomic instability across available PCa cases from The Cancer Genome Atlas (TCGA). Microarray and subsequent pathway and transcription factor enrichment analysis were performed on LNCaP and DU145 prostate cancer cells. Our data demonstrate that hSSB1 expression in PCa correlates with measures of genomic instability including multigene signatures and genomic scars that are reflective of defects in the repair of DNA double-strand breaks via homologous recombination. In response to IR-induced DNA damage, we demonstrate that hSSB1 regulates cellular pathways that control cell cycle progression and the associated checkpoints. In keeping with a role for hSSB1 in transcription, our analysis revealed that hSSB1 negatively modulates p53 and RNA polymerase II transcription in PCa. Of relevance to PCa pathology, our findings highlight a transcriptional role for hSSB1 in regulating the androgen response. We identified that AR function is predicted to be impacted by hSSB1 depletion, whereby this protein is required to modulate AR gene activity in PCa. Our findings point to a key role for hSSB1 in mediating the cellular response to androgen and DNA damage via modulation of transcription. Exploiting hSSB1 in PCa might yield benefits as a strategy to ensure a durable response to ADT and/or radiotherapy and improved patient outcomes.
Read moreMixed Signal Simulation Marathon for Education and Employment
A large scale training in the important area of mixed signal circuit design is provided through a competitive marathon. An open source software platform is created by interfacing the analog circuit design software eSim with Makerchip that provides a friendly interface to digital circuit design through Verilog. More than 1,700 students from different parts of the world participated in the marathon, with 63 winning entries, classified as outstanding, excellent, very good and good.
Read moreAssessing the Compliance of Dental Clinicians towards Regulatory Infection Control Guidelines Using a Newly Developed Survey Tool: A Pilot Cross-Sectional Study in India
Adherence to the dental practice regulatory guidelines instituted during the COVID-19 pandemic is essential to minimize the transmission of SARS-CoV-2 strains. Given the lack of a valid and reliable survey tool to assess the adherence to dental practice guidelines, this study aims to develop, validate, and test a survey tool on a pilot sample of dental clinicians practicing in India. A survey tool was developed/validated through a sequential phasic approach: Phase I- developing survey using conceptual and literature framework; Phase II: ascertaining its validity and reliability; Phase III: pilot testing; and Phase IV: assessing construct validity by exploratory factor analysis (EFA) on the responses collected in Spring 2021. The EFA was achieved using a traditional unweighted least squares extraction method through a varimax rotation with Kaiser normalization. A six-factor solution with 18 items (with the global reliability of 86%) related to screening, regular infection prevention measures, infection control inside the dental operatory, disinfection of the dental unit, disposal, and other COVID-19-specific preventive measures were extracted. Our sample had higher compliance with regard to providing alcohol-based hand scrubs, providing protective gear to attendees, collecting travel/medical history, and screening patients for COVID-19 symptoms. In contrast, less compliance was observed regarding the use of paperless forms of practice and rubber dams in the operatory. The use of a validated survey tool ensures the collection of reliable and valid data, which can serve as baseline data to measure the uptake and effectiveness of dental practice regulatory guidelines in a clinical setting and community dental health clinics.
Read moreRegulatory requirement for the approval of Generic Drug in Vietnam as per ASEAN Common Technical Dossier (ACTD)
Drug approval process differs from one country to another country. The purpose of this study is to give a comparative overview on generic drug market regulation in ASEAN Countries Cambodia and Vietnam. The aim of study is to facilitate proper knowledge regarding main critical issues, differences as well as similarities of related drug regulation. There is a different requirement for registration of generic product in each regulatory system but also comprises of some similar outline that includes some common rules. These are variances and regulatory hurdles such as Number of batches for submission in dossier, stability conditions, registration of product, analysis, bioequivalence and clinical study requirement. ASEAN countries for generic drug product approval ACTD submitted to country specific authority. For solid oral dosage forms as per ASEAN guideline there are 4 parts have to be submitted. Part I contains Administrative requirements which is not a part of common technical document. Part II is Quality contains 3 sections that are a) Table of Content b) Quality overall Summary c) Body of data. Part III contains Non clinical. Part IV contains Clinical data. For the generic drug product Part III and Part IV is not required.
Read moreGenomics Testing in Head and Neck Cancers: Is there a Benefit?
Introduction: Elucidation of the genomic basis of head and neck cancers (HNCs) may help in reducing cancer-related mortality and morbidity. This is because prognostication by predicting disease course and treatment response will help to individualize treatment protocols. Materials and methods: This prospective pilot study used a 48-gene mutation panel on tumor tissue samples obtained from 18 patients suffering from HNCs. The clinical significance of these mutations was analyzed in terms of treatment resistance, presence of distant metastasis, family history, and disease recurrence. Results: Two patients carried germline mutations, nine carried somatic mutations and seven samples had no mutation detected on the 48-gene panel. The genomic studies detected germline mutations in BRCA and AIP, and somatic mutations in TP53, phosphatase and tensin homolog (PTEN), RB1, STK11, GNA11, and HRAS.
Read morePhysiological and Proteomic Signatures Reveal Mechanisms of Superior Drought Resilience in Pearl Millet Compared to Wheat
Presently, pearl millet and wheat are belonging to highly important cereal crops. Pearl millet, however, is an under-utilized crop, despite its superior resilience to drought and heat stress in contrast to wheat. To investigate this in more detail, we performed comparative physiological screening and large scale proteomics of drought stress responses in drought-tolerant and susceptible genotypes of pearl millet and wheat. These chosen genotypes are widely used in breeding and farming practices. The physiological responses demonstrated large differences in the regulation of root morphology and photosynthetic machinery, revealing a stay-green phenotype in pearl millet. Subsequent tissue-specific proteome analysis of leaves, roots and seeds led to the identification of 12,558 proteins in pearl millet and wheat under well-watered and stress conditions. To allow for this comparative proteome analysis and to provide a platform for future functional proteomics studies we performed a systematic phylogenetic analysis of all orthologues in pearl millet, wheat, foxtail millet, sorghum, barley, brachypodium, rice, maize, Arabidopsis, and soybean. In summary, we define (i) a stay-green proteome signature in the drought-tolerant pearl millet phenotype and (ii) differential senescence proteome signatures in contrasting wheat phenotypes not capable of coping with similar drought stress. These different responses have a significant effect on yield and grain filling processes reflected by the harvest index. Proteome signatures related to root morphology and seed yield demonstrated the unexpected intra- and interspecies-specific biochemical plasticity for stress adaptation for both pearl millet and wheat genotypes. These quantitative reference data provide tissue- and phenotype-specific marker proteins of stress defense mechanisms which are not predictable from the genome sequence itself and have potential value for marker-assisted breeding beyond genome assisted breeding.
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