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TPMT and NUDT15 polymorphisms in thiopurine induced leucopenia in inflammatory bowel disease: a prospective study from India.

Narinder Grover, Prateek Bhatia, Antriksh Kumar, Minu Singh, Deepesh Lad, Harshal S Mandavdhare, Jayanta Samanta, Kaushal K Prasad, Usha Dutta, Vishal Sharma,

<h4>Background</h4>Polymorphisms in thiopurine methyltransferase (TPMT) and Nudix hydrolase-15 (NUDT15) have been implicated as the predominant cause of thiopurine induced leukopenia in the Western countries and East Asia respectively. Exact role of these polymorphisms in South Asian population with inflammatory bowel disease (IBD) is uncertain.<h4>Methods</h4>We included consecutive patients with IBD who ... Read more >>

BMC Gastroenterol (BMC gastroenterology)
[2021, 21(1):327]

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Iron nanoparticles decorated hierarchical carbon fiber forest for the magnetic solid-phase extraction of multi-pesticide residues from water samples.

Minu Singh, Anushka Pandey, Shiv Singh, Sheelendra Pratap Singh,

This study describes a versatile, robust and fast sample pre-concentration novel method based on chemical vapour deposition grown iron nanoparticles dispersed hierarchical carbon fiber forest (Fe-ACF/CNF) for the determination of multi-pesticide residue in water samples. This method was developed by the implementation of Fe-ACF/CNF to magnetic solid-phase extraction method (MSPE) ... Read more >>

Chemosphere (Chemosphere)
[2021, 282:131058]

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A case series highlighting structured hematological, biochemical and molecular approach to clinical oral iron refractoriness in children: A pressing need for a 3-tier system for classification of variants in TMPRSS6 gene.

Pankaj Sharma, Prateek Bhatia, Minu Singh, Reena Das, Richa Jain, Deepak Bansal, Savita Verma Attri, Amita Trehan,

In current study, we discuss clinical oral iron refractoriness cases and highlight need for a classification system to define TMPRSS6 gene variants. Out of 231 cases of microcytic hypochromic anemia screened (Sept 2019-Dec 2020), 17 cases (7.35%) with unexplained iron refractoriness (URIDA) phenotype were enrolled after ruling out secondary causes ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2021, 89:102569]

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Epigenetic analysis reveals significant differential expression of miR-378C and miR-128-2-5p in a cohort of relapsed pediatric B-acute lymphoblastic leukemia cases.

Prateek Bhatia, Minu Singh, Aditya Singh, Pankaj Sharma, Amita Trehan, Neelam Varma,

<h4>Introduction and objective</h4>Epigenetic changes play a major role in mediating chemoresistance and relapse in pediatric ALL, and hence in current pilot study, we tried to identify DNA methylation, miRNA expression, and copy number variations (CNVs) in a cohort of relapse pediatric B-ALL cases.<h4>Methodology</h4>DNA methylation, miRNA expression, and CNV analysis were ... Read more >>

Int J Lab Hematol (International journal of laboratory hematology)
[2021, 43(5):1016-1023]

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Clinico-Hematological Profile and Copy Number Abnormalities in a Cohort of STIL-TAL1 and NUP214-ABL1 Positive Pediatric T-Cell Acute Lymphoblastic Leukemia.

Nilamani Patra, Minu Singh, Pankaj Sharma, Amita Trehan, Shano Naseem, Deepak Bansal, Prateek Bhatia,

T cell acute lymphoblastic leukaemia (T-ALL) is a genetically heterogeneous and aggressive form of malignancy. Although a number of recurrent fusion genes are reported in T-ALL, their involvement in disease stratification and therapeutic intervention is still controversial. Considering the prognostic value of <i>STIL-TAL1</i> fusion and tyrosine kinase inhibitor (TKI) based ... Read more >>

Indian J Hematol Blood Transfus (Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion)
[2021, 37(4):555-562]

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Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia.

Shagun Singh, Minu Singh, Devi Dayal, Prateek Bhatia, Sandeep Negi, Savita V Attri,

<h4>Introduction</h4>Homozygous familial hypercholesterolaemia (HoFH) carries a grave prognosis but is often underdiagnosed and undertreated. Confirmation of molecular diagnosis helps in planning effective management and determining prognosis accurately. Aim of the study: To determine the spectrum of mutations in the LDLR gene in a cohort of children with a clinical diagnosis of HoFH.<h4>Material and ... Read more >>

Pediatr Endocrinol Diabetes Metab (Pediatric endocrinology, diabetes, and metabolism)
[2021, 27(1):32-36]

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Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data.

Prashant Chhabra, Prateek Bhatia, Minu Singh, Deepak Bansal, Richa Jain, Neelam Varma, Amita Trehan,

<h4>Objective</h4>In this study, clinico-hematological, genetic and outcome profile of children with BMF was evaluated to delineate the underlying genotype and phenotype.<h4>Design</h4>Cases were evaluated as two groups: Group 1 (n = 56; DBA-23, FA-18, DC-2, UBMFS-13) included children with suspected IBMFS based on clinical phenotype and accessible lab investigations and Group 2 (n = 53) ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2021, 87:102510]

Cited: 1 time

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CVD grown carbon nanofibers: an efficient DSPE sorbent for cleanup of multi-class pesticide residue in high fat and low water commodities by QuEChERS using GC-ECD.

Minu Singh, Anshuman Srivastava, Yogesh Kumar Sharma, Shiv Singh, Sheelendra Pratap Singh,

An inexpensive, effective, and efficient dispersive solid-phase extraction (DSPE) sorbent was developed as an alternative to traditionally used sorbents (primary secondary amine and C18) for fatty matrices using the QuEChERS method. Catalytic chemical vapor deposition grown carbon nanofibers dispersed on activated carbon fibers (Ni-ACF/CNF) having a BET specific surface area of 738 (m<sup>2</sup>/g) were ... Read more >>

Mikrochim Acta (Mikrochimica acta)
[2020, 187(9):490]

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Multisystemic Pediatric Langerhans cell histiocytosis: a comprehensive clinico-pathological and BRAF V600E mutation study at autopsy.

Gargi Kapatia, Prateek Bhatia, Minu Singh, Richa Jain, Deepak Bansal, Kirti Gupta,

Langerhans cell histiocytosis (LCH), a disorder of antigen-presenting cells, is the commonest disorder of the mononuclear phagocytic system. Diagnosis is always challenging due to heterogeneous clinical presentation. However, with the evolution and better understanding of its biology, many of these children are being diagnosed early and offered appropriate therapy. Despite ... Read more >>

Autops Case Rep (Autopsy & case reports)
[2020, 10(2):e2020154]

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Copy Number Variations in Wilms Tumor: A Pilot Study From India.

Emine A Rahiman, Minu Singh, Prateek Bhatia, Nandita Kakkar, Amita Trehan, Deepak Bansal,

<h4>Background</h4>The prognostic role of copy number variation is upcoming in Wilms tumor, and its identification will help in tailored therapy for improved cure.<h4>Study design</h4>This was a retrospective, nested case-control, pilot study.<h4>Materials and methods</h4>Formalin-fixed paraffin-embedded blocks of nephrectomy specimens were retrieved for the study and control groups (children with relapse and ... Read more >>

J Pediatr Hematol Oncol (Journal of pediatric hematology/oncology)
[2020, 42(5):e299-e304]

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PEST domain NOTCH mutations confer a poor relapse free survival in pediatric T-ALL: Data from a tertiary care centre in India.

Prateek Bhatia, Sidharth Totadri, Minu Singh, Praveen Sharma, Amita Trehan, Deepak Bansal, Richa Jain, Neelam Varma, Manupdesh S Sachdeva, Nilamani Patra,

A comprehensive genotype-phenotype analysis of pediatric T-ALL data was performed. 33 confirmed pediatric (≤12 y) T-ALL samples were evaluated for oncogenic transcripts: TLX-1, TLX-3, common fusion of STIL-TAL1, NOTCH1 mutations and copy number variations (CNVs). Mean WBC was 235.69 × 10<sup>3</sup>/μL. TLX1 and TLX-3 overexpression detected in 1 (3%) and 7 (21%) ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2020, 82:102419]

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Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.

Chase C Suiter, Takaya Moriyama, Kenneth A Matreyek, Wentao Yang, Emma Rose Scaletti, Rina Nishii, Wenjian Yang, Keito Hoshitsuki, Minu Singh, Amita Trehan, Chris Parish, Colton Smith, Lie Li, Deepa Bhojwani, Liz Y P Yuen, Chi-Kong Li, Chak-Ho Li, Yung-Li Yang, Gareth J Walker, James R Goodhand, Nicholas A Kennedy, Federico Antillon Klussmann, Smita Bhatia, Mary V Relling, Motohiro Kato, Hiroki Hori, Prateek Bhatia, Tariq Ahmad, Allen E J Yeoh, Pål Stenmark, Douglas M Fowler, Jun J Yang,

As a prototype of genomics-guided precision medicine, individualized thiopurine dosing based on pharmacogenetics is a highly effective way to mitigate hematopoietic toxicity of this class of drugs. Recently, <i>NUDT15</i> deficiency was identified as a genetic cause of thiopurine toxicity, and <i>NUDT15</i>-informed preemptive dose reduction was quickly adopted in clinical settings. ... Read more >>

Proc Natl Acad Sci U S A (Proceedings of the National Academy of Sciences of the United States of America)
[2020, 117(10):5394-5401]

Cited: 17 times

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BRAF V600E mutation in childhood Langerhans cell histiocytosis correlates with multisystem disease and poor survival.

Prateek Bhatia, Minu Singh, Madhulika Sharma, Ajay Sharma, Nandita Kakkar, S Radhika, Amita Trehan, Deepak Bansal,

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia of children with systemic involvement and poor outcome. The altered RAS-RAF-MEK-ERK cell signalling pathway due to somatic mutation of BRAF V600E is the most common genetic abnormality associated with the disease. In the current study, we highlight the frequency of BRAF ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2020, 82:102356]

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Massive parallel variant characterization identifiesNUDT15alleles associated with thiopurine toxicity

Chase Suiter, Takaya Moriyama, Kenneth Matreyek, Wentao Yang, Emma Rose Scaletti, Rina Nishii, Wenjian Yang, Keito Hoshitsuki, Minu Singh, Amita Trehan, Chris Parish, Colton Smith, Deepa Bhojwani, Liz YP Yuen, Chi-kong Li, Chak-ho Li, Yung-li Yang, Gareth Walker, James Goodhand, Nicholas Kennedy, Federico Antillon Klussmann, Smita Bhatia, Mary Relling, Motohiro Kato, Hiroki Hori, Prateek Bhatia, Tariq Ahmad, Allen Yoeh, Pål Stenmark, Douglas Fowler, Jun Yang,

As a prototype of genomics-guided precision medicine, individualized thiopurine dosing based on pharmacogenetics is a highly effective way to mitigate hematopoietic toxicity of this class of drugs. Recently, NUDT15 deficiency was identified as a novel genetic cause of thiopurine toxicity, and NUDT15 -informed preemptive dose reduction is quickly adopted in ... Read more >>

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iAMP21 screening by MLPA assay: Need for identification of characteristic pattern of amplification in addition to mean probe ratios to avoid false positivity.

Anju Vijayan, Minu Singh, Deepak Bansal, Sreejesh Sreedharanunni, Neelam Varma, Man Updesh Singh Sachdeva, Prateek Bhatia,

Int J Lab Hematol (International journal of laboratory hematology)
[2020, 42(1):e30-e34]

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An unusual case of hereditary transthyretin-related amyloidosis and ulcerative colitis in a young Indian girl.

Vishal Sharma, Pankaj Sharma, Minu Singh, Roshan Agarwala, Kaushal K Prasad, Harshal S Mandavdhare, Usha Dutta, Prateek Bhatia,

Hereditary transthyretin (TTR) amyloidosis is a multisystem disorder caused by extracellular amyloid deposition, usually presenting with neurological and cardiovascular involvement. Gastrointestinal involvement, if present, is usually in the form of motility symptoms like diarrhea, constipation, or diarrhea alternating with constipation. Presentations mimicking ulcerative colitis without other system involvement are rare. ... Read more >>

JGH Open (JGH open : an open access journal of gastroenterology and hepatology)
[2020, 4(2):289-291]

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Low Expression of Leucocyte Associated Immunoglobulin Like Receptor-1 (LAIR-1/CD305) in a Cohort of Pediatric Acute Lymphoblastic Leukemia Cases

Minu Singh, Prateek Bhatia, Jitendra K Shandilya, Amit Rawat, Neelam Varma, Manupdesh Singh Sachdeva, Amita Trehan, Deepak Bansal, Richa Jain, Sidharth Totadri,

Background: Immunophenotypic markers can play significant role in prognostic assessment for different cancers and leukocyte-associated Ig-like receptor (LAIR-1) is a recently identified inhibitory immuno-receptor. Methods: We measured LAIR-1 expression in paediatric ALL patients (n-42) and appropriate controls by flow cytometry. Median fluorescence intensities (MFIs) were calculated and correlated with demographic and clinical variables ... Read more >>

Asian Pac J Cancer Prev (Asian Pacific journal of cancer prevention : APJCP)
[2018, 19(11):3131-3135]

Cited: 2 times

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Keeping PACE with Ph Positive to Ph-Like Detection in B-Lineage Acute Lymphoblastic Leukemia: A Practical and Cost Effective (PACE) Approach in a Resource Constrained Setting.

Sidharth Totadri, Minu Singh, Amita Trehan, Neelam Varma, Prateek Bhatia,

Philadelphia (Ph)-like or BCR-ABL like acute lymphoblastic leukemia (ALL) is defined on the basis of a gene expression profile that is similar to Ph-positive ALL. It comprises a wide spectrum of genetic lesions affecting primarily the cytokine receptor and/or kinase signalling genes. It accounts for approximately 10-15% of pediatric ALL, ... Read more >>

Indian J Hematol Blood Transfus (Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion)
[2018, 34(4):595-601]

Cited: 1 time

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Prevalence of TPMT, ITPA and NUDT 15 genetic polymorphisms and their relation to 6MP toxicity in north Indian children with acute lymphoblastic leukemia.

Sanjeev Khera, Amita Trehan, Prateek Bhatia, Minu Singh, Deepak Bansal, Neelam Varma,

<h4>Purpose</h4>Toxicity of 6-Mercaptopurine (6MP) is related to single nucleotide polymorphism (SNP) in genes coding for metabolizing enzymes, with TPMT analysis being recommended prior to maintenance therapy. However, ITPA and NUDT15 polymorphisms appear more important in the Asian population.<h4>Method</h4>In this study 63 consecutive patients with ALL, entering maintenance phase of therapy, ... Read more >>

Cancer Chemother Pharmacol (Cancer chemotherapy and pharmacology)
[2019, 83(2):341-348]

Cited: 12 times

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Deletion of CDKN2A/B is associated with inferior relapse free survival in pediatric B cell acute lymphoblastic leukemia.

M Kathiravan, Minu Singh, Prateek Bhatia, Amita Trehan, Neelam Varma, Manupdesh Singh Sachdeva, Deepak Bansal, Richa Jain, Shano Naseem,

Considering conflicting data on CDKN2A/B deletion in ALL, this study to assess its prognostic significance as an independent marker in a total of 96 pediatric B and T-ALL cases was planned. The overall frequency of CDKN2A/B deletion was 44% (n = 43) with 36% (30/83) in B-ALL and 100% (13/13) in T-ALL. ... Read more >>

Leuk Lymphoma (Leukemia & lymphoma)
[2019, 60(2):433-441]

Cited: 6 times

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High frequency of intermediate and poor risk copy number abnormalities in pediatric cohort of B-ALL correlate with high MRD post induction.

Minu Singh, Prateek Bhatia, Amita Trehan, Neelam Varma, Manupdesh Singh Sachdeva, Deepak Bansal, Richa Jain, Shano Naseem,

Copy number abnormalities (CNAs) and recurrent fusion transcripts are important genetic events which define and prognosticate B-Cell Acute Lymphoblastic Leukemia (B-ALL). We evaluated CNAs and fusion transcripts in 67 pediatric B-ALL cases and correlated the data with standard risk factors and early treatment outcome parameters. Common fusion transcripts ETV6-RUNX1, E2A-PBX, ... Read more >>

Leuk Res (Leukemia research)
[2018, 66:79-84]

Cited: 3 times

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C-terminal region of human p53 attenuates buffalo p53 N-terminal-specific transactivation of p21 promoter by modulating tetramerization of the protein.

Minu Singh, Tapas Mukhopadhyay,

Here, we have studied in p53 null H1299 lung carcinoma cells, the dominant-negative effect of human p53 (h-p53) on buffalo p53 (b-p53) induced nuclear transactivation-dependent function. Recently, we have isolated and cloned the full-length cDNA of buffalo p53. Buffalo and human p53 proteins exhibit a high degree of structural and ... Read more >>

Mol Cell Biochem (Molecular and cellular biochemistry)
[2018, 443(1-2):101-110]

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Emerging role of NUDT15 polymorphisms in 6-mercaptopurine metabolism and dose related toxicity in acute lymphoblastic leukaemia.

Minu Singh, Prateek Bhatia, Sanjeev Khera, Amita Trehan,

Despite more than 80% long term survival in ALL, morbidity due to drug related myelotoxicity remains high. Germline variants of thiopurine metabolizing enzymes (TPMT and ITPA) have been described which are associated with increased drug toxicity during maintenance phase, but their prevalence in different ethnic groups is variable to account ... Read more >>

Leuk Res (Leukemia research)
[2017, 62:17-22]

Cited: 10 times

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Isolation, characterization and functional analysis of full length p53 cDNA from Bubalus bubalis.

Minu Singh, Suruchi Aggarwal, Ashok K Mohanty, Tapas Mukhopadhyay,

p53 plays a pivotal role in maintaining the genomic integrity of the cell and has an important role in cellular transformation. We isolated and cloned a full length p53 cDNA (Bp53) from water buffalo in expression vectors designed to generate tagged proteins with FLAG or GFP. Bp53 was found to ... Read more >>

Gene (Gene)
[2015, 568(2):146-154]

Cited: 1 time

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SRD5A2 gene expression inhibits cell migration and invasion in prostate cancer cell line via F-actin reorganization.

Suruchi Aggarwal, Minu Singh, Ashok Kumar, Tapas Mukhopadhyay,

Steroid 5-alpha reductase type 2 (SRD5A2) gene is important for normal development and functioning of prostate gland but it is reported to be silenced in metastatic prostate cancer. We showed that exogenous SRD5A2 expression in prostate cancer cell line reduced cell migration and invasion. Additionally, the stable transfectants showed enhanced ... Read more >>

Mol Cell Biochem (Molecular and cellular biochemistry)
[2015, 408(1-2):15-23]

Cited: 6 times

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