A5077917336- Hemophilia Treatment and Research
- Genetic Neurodegenerative Diseases
- Musculoskeletal pain and rehabilitation
- Muscle Physiology and Disorders
- Dementia and Cognitive Impairment Research
- Mitochondrial Function and Pathology
- Platelet Disorders and Treatments
- Pediatric Hepatobiliary Diseases and Treatments
- Chronic Myeloid Leukemia Treatments
- Amyotrophic Lateral Sclerosis Research
- DNA Repair Mechanisms
- Long-Term Effects of COVID-19
- Mindfulness and Compassion Interventions
- Andrographolide Research and Applications
- Renal Diseases and Glomerulopathies
- RNA Research and Splicing
- Drug Transport and Resistance Mechanisms
- Ubiquitin and proteasome pathways
- Myasthenia Gravis and Thymoma
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Berberine and alkaloids research
- Metabolism and Genetic Disorders
- Misinformation and Its Impacts
- Evolutionary Psychology and Human Behavior
- Nerve Injury and Rehabilitation
SRM Institute of Science and Technology
2025
Northwestern University
2024
Flame University
2024
Graphic Era University
2024
D.Y. Patil University
2018-2024
Northwestern Memorial Hospital
2024
Institute of Genomics and Integrative Biology
2018-2023
Bioscience (China)
2023
Intel (India)
2023
Indian Institute of Technology Jodhpur
2023
<h3>Objective:</h3> To characterize the presenting symptoms and signs of patients clinically diagnosed with behavioral variant frontotemporal dementia (bvFTD) who had different neuropathologic findings on autopsy. <h3>Methods:</h3> This study reviewed all entered as clinical bvFTD in National Alzheimer9s Coordinating Center9s database both data from 2005 to 2011. Among 107 identified, 95 unambiguous pathologic findings, including 74 lobar degeneration (bvFTD-FTLD) 21 Alzheimer disease...
Background: Transient receptor potential (TRP) channels control multiple processes involved in cancer progression by modulating cell proliferation, survival, invasion and intravasation, as well as, endothelial (EC) biology tumor angiogenesis. Nonetheless, a complete TRP expression signature vessels, including prostate (PCa), is still lacking. Methods: In the present study, we profiled qPCR of all human tumor-derived ECs (TECs) comparison with TECs from breast renal tumors. We further...
Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etiological factor (10 TREs explain nearly 30-40% ataxia cohort globally). The experience 10 years common genetic subtypes ≈5600 patients' referrals (Pan-India) received at single center is shared herein. Frequencies (in %, n) SCA types FRDA in the sample are...
Abstract Background Mutations in SLC39A14 cause a recessive disorder of manganese (Mn) metabolism that manifests as childhood onset progressive neurodegeneration characterized by parkinsonism and dystonia. Methods The present study genetically investigated case hypermanganesemia. We describe family where an affected child with history showed symptoms dystonia increased levels blood Mn altered signal intensities globus pallidus dentate nucleus. Whole exome sequencing was conducted to...
XOR and XNOR gates play an important role in digital systems. & logic are basic building blocks of many arithmetic circuits. The circuit is implemented pass transistor logic, static CMOS transmission gate logic. design the circuits based on TSMC 32nm process models at supply voltage 0.9V simulated using HSPICE. Due to low power consumption high speed these suitable for operations VLSI applications. Hence comparison delay obtained this paper various techniques gates.
Over 100 genetically distinct causal known loci for hereditary ataxia phenotype poses a challenge diagnostic work-up patients in clinically relevant time and precision. In the present study using next-generation sequencing, we have investigated pathogenic variants early-onset cerebellar cases whole exome sequencing singleton/family-designed targeted gene-panel sequencing. A total of 98 index were (whole (WES) 16 gene panel 41 causing genes 82 patients) evaluated. Four families underwent WES...
Abstract The role of the CTC1–STN1–TEN1 (CST) complex in Coats plus syndrome (CP), as well other telomeropathy‐phenotypes and disorders genome instability is documented. We report an Indian child with a clinical diagnosis CP who presented to us retinal exudates, extensive cerebral calcification, developmental delay severe anemia consequent upon chronic gastrointestinal (GI) bleeding. Whole exome sequencing revealed compound heterozygous variants STN1 probable genetic cause leading present...
Image processing has become extremely important, with the consequences of real-time image failures being severe; thus, research and study in methods are important. Some images contain incorrect information, requiring use techniques to improve make it more understandable. Others require some pre-processing for machine understand important decisions about on its own, without any manual intervention. Part includes doing a clean-up dataset by removal bias that could appear. This paper presents...
Factor replacement therapy in treatment of haemophilia A is complicated by the production neutralising antibodies known as inhibitors. The formation inhibitors multifactorial being associated with both genetic and environmental factors.To document prevalence severe community where most patients receive only infrequent episodic evaluate factors which could be contributing to it.Community based camps were conducted different parts country. Patients assessed through a structured questionnaire...
Girls with obesity are at increased risk of early puberty. Obesity is associated insulin resistance and hyperinsulinemia. We hypothesized that plays a physiological role in pubertal transition, super-imposed hyperinsulinemia due to childhood promotes initiation puberty girls. To isolate the effect from adiposity, we compared pre-pubertal states hyperinsulinemic, lean muscle (M)-insulin-like growth factor 1 receptor (IGF-1R)-lysine (K)-arginine (R) (MKR) mice normoinsulinemic WT, onset...
Mutations in the GMPPB gene affect glycosylation of α-dystroglycan, leading to varied clinical phenotypes. We attempted delineate muscle MR imaging spectrum GMPPB-related Congenital Myasthenic syndrome (CMS) a single-center cohort study.To identify distinct patterns involvement mutations.We analyzed images 7 genetically proven cases dystroglycanopathy belonging three families and studied potential qualitative pattern aid clinico -radiological diagnosis neuromuscular practice. All individuals...