A5046241020- Cancer Genomics and Diagnostics
- Molecular Biology Techniques and Applications
- DNA Repair Mechanisms
- Genetic and Kidney Cyst Diseases
- Cervical Cancer and HPV Research
- Head and Neck Cancer Studies
- CRISPR and Genetic Engineering
- Renal and related cancers
- Genetic factors in colorectal cancer
- Inflammatory mediators and NSAID effects
- Cystic Fibrosis Research Advances
- Telomeres, Telomerase, and Senescence
- Peptidase Inhibition and Analysis
- Cancer, Lipids, and Metabolism
- Medical Imaging and Pathology Studies
- Congenital heart defects research
- RNA Interference and Gene Delivery
- Congenital Anomalies and Fetal Surgery
- Protist diversity and phylogeny
- Advanced biosensing and bioanalysis techniques
- Lung Cancer Treatments and Mutations
- Fetal and Pediatric Neurological Disorders
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Burkholderia infections and melioidosis
Kasturba Medical College, Manipal
2020-2025
Manipal Academy of Higher Education
2020-2025
Memorial Sloan Kettering Cancer Center
2016-2021
University of Pittsburgh
2010-2018
The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which preassembled in the cytoplasm prior transport axonemal compartment. In humans, defects structural components, docking complexes, or cytoplasmic assembly factors can cause primary dyskinesia (PCD), a disorder characterized chronic airway disease and laterality. By using combined high resolution copy-number variant mutation analysis, we identified ARMC4 mutations...
Abstract Background Patients with human papillomavirus–related oropharyngeal cancers have excellent outcomes but experience clinically significant toxicities when treated standard chemoradiotherapy (70 Gy). We hypothesized that functional imaging could identify patients who be safely deescalated to 30 Gy of radiotherapy. Methods In 19 patients, pre- and intratreatment dynamic fluorine-18-labeled fluoromisonidazole positron emission tomography (PET) was used assess tumor hypoxia. without...
Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), sinopulmonary disease with dyskinetic/immotile cilia in the airway are seemingly disparate diseases. However, they have an overlapping genetic etiology mutations genes, reflection of common requirement for motile clearance. While PCD is monogenic recessive disorder, heterotaxy has more complex, largely non-monogenic etiology. In this study, we show novel dynein gene DNAH6 can cause...
A circulating tumor DNA (ctDNA) test to detect plasma Epstein-Barr viral can be used screen for early nasopharyngeal cancers; however, the reported sensitivity of ctDNA tests human papillomavirus (HPV)-associated cancers is modest. We assessed utility droplet digital polymerase chain reaction (ddPCR) early-stage HPV-associated using sequential HPV16 and HPV33 assays that account HPV subtype distribution sequence variants.We collected specimens from 97 HPV-positive patients with oropharyngeal...
Significance Cancers associated with the human papillomavirus, including oropharyngeal, anal canal, cervical, and vulvar carcinomas, constitute about 4.5% of all solid tumors. In many cases, they can be readily cured radiotherapy, which is mainstay treatment. HPV-associated cancers are more radiosensitive than HPV-negative cancers, but mechanism this radiosensitivity unknown. Across oncology, HPV association one only validated molecular biomarker radiosensitivity. Here, we demonstrate that...
The PTGS2 gene codes for the cyclooxygenase-2 (COX-2) enzyme that catalyzes committed step in prostaglandin (PG) synthesis. Various in-vivo and in-vitro data suggest E2 mediates as a signaling molecule activating VEGF pathway (VSP), forming an association between COX-2 VSP. Several chemotherapy regimens increasingly rely on preventing synthesis of PGs. targeted metronomic agents, which suppress enzymes, have major role suppressing oral cancer cascade. Hence, this study was designed to...
Abstract Background PTGS2 encodes cyclooxygenase‐2 (COX‐2), which catalyses the committed step in prostaglandin synthesis. Various vivo and vitro data suggest that COX‐2 mediates VEGF signalling pathway. In silico analysis performed TCGA, PanCancer Atlas for head neck cancers, demonstrated significant expression co‐expression of genes regulate signalling. This study was designed to elucidate pattern regulating patients with locally advanced oral squamous cell carcinoma (OSCC). Methodology...
Planar cell polarity (PCP) is controlled by a conserved pathway that regulates directional behavior. Here, we show mutant mice harboring newly described mutation termed Beetlejuice (Bj) in Prickle1 (Pk1), PCP component, exhibit developmental phenotypes involving defects, including skeletal, cochlear and congenital cardiac anomalies. Bj mutants die neonatally with outflow tract (OFT) malalignment. This associated OFT shortening due to loss of polarized orientation failure second heart field...
Werner syndrome (WS) is a disorder characterized by features of premature aging and increased cancer that caused loss the RecQ helicase WRN. Telomeres consisting duplex TTAGGG repeats in humans protect chromosome ends sustain cellular proliferation. WRN prevents telomeres replicated from G-rich strand, which can form secondary G-quadruplex (G4) structures. Here, we dissected roles replication telomeric sequences examining factors inherent to repeats, such as G4 DNA, independently other at...
Recent studies identified a previously uncharacterized gene C5ORF42 (JBTS17) as major cause of Joubert syndrome (JBTS), ciliopathy associated with cerebellar abnormalities and other birth defects. Here we report the first Jbts17 mutant mouse model, Heart Under Glass (Hug), recovered from forward genetic screen. Exome sequencing Hug S235P missense mutation in homolog JBTS17 (2410089e03rik). mutants exhibit multiple defects typical ciliopathies, including skeletal dysplasia, polydactyly,...
Double strand break (DSB) repair primarily occurs through 3 pathways: non-homologous end-joining (NHEJ), alternative (Alt-EJ), and homologous recombination (HR). Typical methods to measure pathway usage include integrated cassette reporter assays or visualization of DNA damage induced nuclear foci. It is now well understood that Cas9-induced breaks also involves NHEJ, Alt-EJ, HR pathways, providing a new format usage. Here, we have developed simple Cas9-based system with validated outcomes...
Abstract Locally advanced oral squamous cell carcinoma poses a significant challenge in oncology due to its rising incidence and mortality rates. Despite therapeutic progress, understanding molecular intricacies is essential. This study explored the role of PON2 , multifunctional enzyme implicated antiapoptotic mechanisms. Aberrant expression cancers raises questions regarding involvement evading programmed death treatment resistance. Patients with locally disease were enrolled, analyses...
, also known as URCL4, has been reported to have higher expression and be associated with poor prognosis in lung adenocarcinoma patients, its role regulation of the EGFR/AKT/mTORC1 pathway recently elucidated. In current study, we used publicly available data experimental validation
Myelomeningocele and gastroschisis, on their own, are both relatively common entities encountered in pediatric surgical care. Coexistence of these pathologies, however, is exceedingly rare. The authors report 2 patients who presented with myelomeningocele gastroschisis at birth. They obtained blood for whole-exome analysis one the identified 3 mutations that could be related to underlying anomalies: homozygous FAM171B ABCA1 a hemizygous (X-linked) mutation COL4A5 . Of these, have function...
ABSTRACT Human papillomaviral (HPV) integrations into host human genome, a key event in cervical carcinogenesis, are currently mapped through laborious and expensive sequencing methodologies. We developed validated novel library preparation strategy for nanopore to generate long targeted reads with HPV chimeric sequences. Using this strategy, we known HeLa (HPV18) SiHa (HPV16) cell lines. also integration sites five HPV+ cancer patients, which were confirmed by whole genome Sanger...
Abstract Introduction Detecting circulating tumor DNA (ctDNA) in the blood using minimally invasive techniques known as a "liquid biopsy", is gaining tremendous popularity oncology research. Integration of human papillomavirus (HPV) and overexpression E6 E7 oncogenes are crucial steps development cervical cancer. We investigated potential utility HPV ctDNA biomarker for monitoring treatment outcomes patients with Material Methods use droplet digital PCR (ddPCR) to measure amount HPV16/18...