Minu Singh
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View article: Altered Expression of m6A-Associated Genes Is Linked with Poor Prognosis in Pediatric Acute Myeloid Leukemia Patients
Altered Expression of m6A-Associated Genes Is Linked with Poor Prognosis in Pediatric Acute Myeloid Leukemia Patients Open
The dysregulation of m6A-related genes recognized as ‘writers’, ‘readers’, and ‘erasers’ is reported to be involved in the initiation, progression, and drug resistance of acute myeloid leukemia (AML). In the present study, we investigated …
View article: Evaluation of TP53 Expression in Pediatric B-cell Acute Lymphoblastic Leukemia and Its Correlation With Clinicopathological Profiles
Evaluation of TP53 Expression in Pediatric B-cell Acute Lymphoblastic Leukemia and Its Correlation With Clinicopathological Profiles Open
View article: Recent advances on biogenesis, functions and therapeutic potential of long noncoding RNAs in T cell acute lymphoblastic leukemia
Recent advances on biogenesis, functions and therapeutic potential of long noncoding RNAs in T cell acute lymphoblastic leukemia Open
T-cell Acute Lymphoblastic Leukemia (T-ALL) is a highly aggressive form of ALL with at least 25% relapse rates. The high relapse rates are often linked to poor prognoses. More detailed studies for novel therapeutic targets for the treatmen…
View article: Current insights on m6A RNA modification in acute leukemia: therapeutic targets and future prospects
Current insights on m6A RNA modification in acute leukemia: therapeutic targets and future prospects Open
RNA modification is the critical mechanism for regulating post-transcriptional processes. There are more than 150 RNA modifications reported so far, among which N6-Methyladenosine is the most prevalent one. M6A RNA modification complex con…
View article: Clinical utility of a novel triplex digital PCR assay for clone monitoring in sequential and relapsed pediatric B-cell acute lymphoblastic leukemia patients
Clinical utility of a novel triplex digital PCR assay for clone monitoring in sequential and relapsed pediatric B-cell acute lymphoblastic leukemia patients Open
Introduction: Digital PCR studies for clonal disease monitoring in B-ALL patients are currently limited due to the heterogeneous nature of mutations, which limitscost-effective assay designs. Materials and Methods: In the “DETECTOR study”,…
View article: Integrated analysis of transcriptome and genome variations in pediatric T cell acute lymphoblastic leukemia: data from north Indian tertiary care center
Integrated analysis of transcriptome and genome variations in pediatric T cell acute lymphoblastic leukemia: data from north Indian tertiary care center Open
Introduction T-cell acute lymphoblastic leukemia (T-ALL) is a genetically heterogeneous disease with poor prognosis and inferior outcome. Although multiple studies have been perform on genomics of T-ALL, data from Indian sub-continent is s…
View article: Novel lncRNAs LINC01221, RP11-472G21.2 and CRNDE are markers of differential expression in pediatric patients with T cell acute lymphoblastic leukemia
Novel lncRNAs LINC01221, RP11-472G21.2 and CRNDE are markers of differential expression in pediatric patients with T cell acute lymphoblastic leukemia Open
View article: PB0169 Unearthing the Genotype-Inhibitor Phenotype Association in Severe Hemophilia A: A North Indian Cohort Study
PB0169 Unearthing the Genotype-Inhibitor Phenotype Association in Severe Hemophilia A: A North Indian Cohort Study Open
Figure 2: Pedigree analysis.Pedigree analysis of the proband (IV:1) and all ascending blood relatives up to the great-grandparents.The carrier mother (III:9) of the proband that was determined to be inv 22 positive is also included. Conclu…
View article: 849P Long non-coding RNA signatures and their role in the progression of childhood T cell acute lymphoblastic leukemia
849P Long non-coding RNA signatures and their role in the progression of childhood T cell acute lymphoblastic leukemia Open
View article: POS0356 EVALUATION OF FC GAMMA RECEPTOR (FCΓR/FCGR) & CYP GENETIC POLYMORPHISM AND ITS PHARMACOGENOMIC CORRELATION WITH RITUXIMAB AND CYCLOPHOSPHAMIDE RESPONSE IN ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODY ASSOCIATED VASCULITIS
POS0356 EVALUATION OF FC GAMMA RECEPTOR (FCΓR/FCGR) & CYP GENETIC POLYMORPHISM AND ITS PHARMACOGENOMIC CORRELATION WITH RITUXIMAB AND CYCLOPHOSPHAMIDE RESPONSE IN ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODY ASSOCIATED VASCULITIS Open
View article: Therapy-Acquired Clonal Mutations in Thiopurine Drug-Response Genes Drive Majority of Early Relapses in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia
Therapy-Acquired Clonal Mutations in Thiopurine Drug-Response Genes Drive Majority of Early Relapses in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia Open
Methods: Forty pediatric (0–12 years) B-ALL DNA samples (20 paired Diagnosis-Relapse) and an additional six B-ALL DNA samples (without relapse at 3 years post treatment), as the non-relapse arm, were retrieved from the biobank for advanced…
View article: ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease
ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease Open
The ITPA (C.94C > A) polymorphism was frequently detected in the study population but was not predictive for leukopenia in patients with IBD on thiopurine therapy.
View article: Unveiling the lncRNA landscape in pediatric T-cell acute lymphoblastic leukemia: Insights, signatures, and clinical implications
Unveiling the lncRNA landscape in pediatric T-cell acute lymphoblastic leukemia: Insights, signatures, and clinical implications Open
View article: Correlation of expression profile of RNA demethylase-ALKBH5 with molecular sub-types of acute myeloid leukemia in pediatric patients
Correlation of expression profile of RNA demethylase-ALKBH5 with molecular sub-types of acute myeloid leukemia in pediatric patients Open
View article: Pediatric leukemia biobank sample storage audit in a resource constraint setting: A 7-year story of 1000’s of samples
Pediatric leukemia biobank sample storage audit in a resource constraint setting: A 7-year story of 1000’s of samples Open
View article: Targeted next generation sequencing panel based screening and diagnosis of bone marrow failure cohort reveals diverse genomic landscape of pathogenic germline variants
Targeted next generation sequencing panel based screening and diagnosis of bone marrow failure cohort reveals diverse genomic landscape of pathogenic germline variants Open
Introduction: Current study is a 4 year experience in diagnosis and screening of bone marrow failure cases using a targeted sequencing panel. Methods: A total of 171 cases underwent targeted NGS and were categorized as suspected inherited …
View article: Clinical and Prognostic Impact of Copy Number Alterations and Associated Risk Profiles in a Cohort of Pediatric B-cell Precursor Acute Lymphoblastic Leukemia Cases Treated Under ICiCLe Protocol
Clinical and Prognostic Impact of Copy Number Alterations and Associated Risk Profiles in a Cohort of Pediatric B-cell Precursor Acute Lymphoblastic Leukemia Cases Treated Under ICiCLe Protocol Open
Copy number alteration (CNA) status and CNA risk profiles of IKZF1 plus , UK-ALL CNA risk groups and MRplus scores, were evaluated for clinical and prognostic impact in a cohort of 493 B-cell acute lymphoblastic leukemia cases diagnosed an…
View article: Los polimorfismos de ITPA no predicen un riesgo adicional más allá de TPMT y NUDT15 para citopenia inducida por tiopurina en la enfermedad inflamatoria intestinal
Los polimorfismos de ITPA no predicen un riesgo adicional más allá de TPMT y NUDT15 para citopenia inducida por tiopurina en la enfermedad inflamatoria intestinal Open
Resumen: Introducción y objetivos: La leucopenia relacionada con tiopurina está asociada con polimorfismos en la tiopurina metiltransferasa (TPMT, por sus siglas en inglés) y con el gen NUDT15. Sin embargo, estos polimorfismos explican sol…
View article: Prognostic impact of copy number alterations in pediatric B-cell precursor acute lymphoblastic leukemia: A collaborative data from two major oncology centers of North India
Prognostic impact of copy number alterations in pediatric B-cell precursor acute lymphoblastic leukemia: A collaborative data from two major oncology centers of North India Open
In current study, copy number alteration (CNA) status and CNA risk profiles of IKZF1plus, UK-ALL CNA risk groups and MRplus score, were evaluated for clinical and prognostic impact in a cohort of 493 B-ALL cases diagnosed and treated under…
View article: IDF21-0470 Neither plasma glucose at admission nor in-hospital hyperglycaemia predict poor clinical outcomes in COVID-19 patients
IDF21-0470 Neither plasma glucose at admission nor in-hospital hyperglycaemia predict poor clinical outcomes in COVID-19 patients Open
View article: Experience of quantity and quality of DNA and RNA extraction from limited pediatric blood samples
Experience of quantity and quality of DNA and RNA extraction from limited pediatric blood samples Open
Introduction: Optimal DNA and RNA quantity and purity is essential for downstream molecular biology experimentation and to avoid re-processing of sample. Despite availability of different kits and automated systems for nucleic acid isolati…
View article: TPMT and NUDT15 polymorphisms in thiopurine induced leucopenia in inflammatory bowel disease: a prospective study from India
TPMT and NUDT15 polymorphisms in thiopurine induced leucopenia in inflammatory bowel disease: a prospective study from India Open
View article: Impact of HFE-2 and HAMP Gene Variations on Iron Overload in Pediatric Patients with Non-Transfusion Dependent Thalassemia: A Pilot Study
Impact of HFE-2 and HAMP Gene Variations on Iron Overload in Pediatric Patients with Non-Transfusion Dependent Thalassemia: A Pilot Study Open
View article: Clinico-Hematological Profile and Copy Number Abnormalities in a Cohort of STIL-TAL1 and NUP214-ABL1 Positive Pediatric T-Cell Acute Lymphoblastic Leukemia
Clinico-Hematological Profile and Copy Number Abnormalities in a Cohort of STIL-TAL1 and NUP214-ABL1 Positive Pediatric T-Cell Acute Lymphoblastic Leukemia Open
View article: Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia
Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia Open
The frequency of disease-causing variants in the LDLR gene in our patients with HoFH was 50%. Further studies to characterise mutations in genes for apolipoprotein B, proprotein convertase subtilisin/kexin type 9, or LDL adaptor protein ar…
View article: Massively parallel variant characterization identifies<i>NUDT15</i>alleles associated with thiopurine toxicity
Massively parallel variant characterization identifies<i>NUDT15</i>alleles associated with thiopurine toxicity Open
Significance Pharmacogenetics is a prototype of genomics-guided precision medicine. While there is a rapid expansion of novel pharmacogenetic variants discovered by genome sequencing, the lack of variant interpretation in a scalable fashio…
View article: Multisystemic Pediatric Langerhans cell histiocytosis: a comprehensive clinico-pathological and BRAF V600E mutation study at autopsy
Multisystemic Pediatric Langerhans cell histiocytosis: a comprehensive clinico-pathological and BRAF V600E mutation study at autopsy Open
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 evol…
View article: Massive parallel variant characterization identifies<i>NUDT15</i>alleles associated with thiopurine toxicity
Massive parallel variant characterization identifies<i>NUDT15</i>alleles associated with thiopurine toxicity Open
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 identifie…
View article: iAMP21 screening by MLPA assay: Need for identification of characteristic pattern of amplification in addition to mean probe ratios to avoid false positivity
iAMP21 screening by MLPA assay: Need for identification of characteristic pattern of amplification in addition to mean probe ratios to avoid false positivity Open
View article: An unusual case of hereditary transthyretin‐related amyloidosis and ulcerative colitis in a young Indian girl
An unusual case of hereditary transthyretin‐related amyloidosis and ulcerative colitis in a young Indian girl Open
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 t…